Sequence information from Table 2:  human mRNA sequences



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006073. Homo sapiens tria...[gi:5174724] Links  


LOCUS       TRDN                    2947 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens triadin (TRDN), mRNA.
ACCESSION   NM_006073
VERSION     NM_006073.1  GI:5174724
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2947)
  AUTHORS   Taske,N.L., Eyre,H.J., O'Brien,R.O., Sutherland,G.R.,
            Denborough,M.A. and Foster,P.S.
  TITLE     Molecular cloning of the cDNA encoding human skeletal muscle
            triadin and its localisation to chromosome 6q22-6q23
  JOURNAL   Eur. J. Biochem. 233 (1), 258-265 (1995)
  MEDLINE   96061957
   PUBMED   7588753
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U18985.1.
FEATURES             Location/Qualifiers
     source          1..2947
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22-q23"
                     /sex="female"
                     /tissue_type="skeletal muscle"
     gene            1..2947
                     /gene="TRDN"
                     /note="TDN; TRIADIN"
                     /db_xref="LocusID:10345"
                     /db_xref="MIM:603283"
     CDS             23..2212
                     /gene="TRDN"
                     /codon_start=1
                     /product="triadin"
                     /protein_id="NP_006064.1"
                     /db_xref="GI:5174725"
                     /db_xref="LocusID:10345"
                     /db_xref="MIM:603283"
                     /translation="MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVTEDIVTTF
                     SSPAAWLLVIALIITWSAVAIVMFDLVDYKNFSASSIAKIGSDPLKLVRDAMEETTDW
                     IYGFFSLLSDIISSEDEEDDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQT
                     KVTHKEKEKGKEKVREKEKPEKKATHKEKIEKKEKPETKTVAKEQKKAKTAEKSEEKT
                     KKEVKGGKQEKVKQTAAKVKEVQKTPSKPKEKEDKEKAAVSKHEQKDQYAFCRYMIDI
                     FVHGDLKPGQSPAIPPPLPTEQASRPTPASPALEEKEGEKKKAEKKVTSETKKKEKED
                     IKKKSEKETAIDVEKKEPGKASETKQGTVKIAAQAAAKKDEKKEDSKKTKKPAEVEQP
                     KGKKQEKKEKHVEPAKSPKKEHSVPSDKQVKAKTERAKEEIGAVSSKKAVPGKKEEKT
                     TKTVEQEIRKEKSGKTSSILKDKEPIKGKEEKVPASLKEKEPETKKDEKMSKAGKEVK
                     PKPPQLQGKKEEKPEPQIKKEAKPAISEKVQIHKQDIVKPEKTVSHGKPEEKVLKQVK
                     AVTIEKTAKPKPTKKAEHREREPPSIKTDKPKPTPKGTSEVTESGKKKTEISEKESKE
                     KADMKHLREEKVSTRKESLQLHNVTKAEKPARVSKDVEDVPASKKAKEGTEDVSPTKQ
                     KSPISFFQCVYLDGYNGYGFQFPFTPADRPGESSGQANSPGQKQQGQ"
     variation       623
                     /gene="TRDN"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1802746"
     variation       2274
                     /gene="TRDN"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:361508"
     variation       2349
                     /gene="TRDN"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:361509"
BASE COUNT     1209 a    503 c    611 g    624 t
ORIGIN      
        1 acttttactt ttgacgacca ccatgactga gatcactgct gaaggaaatg catctacaac
       61 cacaactgtg atagacagca aaaatggatc tgtgcccaaa tcccccggaa aagtgctgaa
      121 gaggacagtc acagaagaca tagtgacgac gttcagctcc cctgcagcct ggcttctggt
      181 cattgccctg ataatcacgt ggtcagctgt tgccatcgtt atgtttgatt tagtggatta
      241 caaaaacttt tcagcaagct ctattgccaa gattggctca gatcctttaa aactggtacg
      301 tgatgctatg gaggaaacca cggactggat ctatggcttc ttttctttgt tatctgacat
      361 catctcatct gaagatgaag aagatgatga tggtgacgaa gatactgata aaggagaaat
      421 agatgagcct cccttgagaa aaaaagaaat acacaaagat aagactgaaa aacaagagaa
      481 acctgaaagg aaaatacaaa ctaaagttac acacaaagaa aaagaaaaag gaaaagaaaa
      541 agtaagagaa aaagaaaaac ctgaaaagaa agcaactcac aaggaaaaaa ttgagaaaaa
      601 agaaaaacca gaaacaaaga cagtggcgaa agaacagaag aaagctaaga ctgcagaaaa
      661 gagtgaagaa aagactaaaa aggaagtgaa aggtggaaaa caggagaaag tgaagcaaac
      721 agctgcaaaa gtaaaagaag tacagaaaac accatcaaaa cccaaagaaa aggaggacaa
      781 agagaaagca gctgtgtcaa agcatgaaca gaaagatcag tatgcattct gtcgatatat
      841 gattgacata tttgtccatg gggatttaaa accaggacaa agcccagcca ttccacctcc
      901 cttaccgaca gaacaagctt ccagacccac tccggcatca cctgcccttg aagaaaaaga
      961 aggggaaaag aagaaggctg agaagaaagt tacttctgaa acaaaaaaga aagaaaaaga
     1021 agatatcaaa aagaaaagtg agaaggaaac tgccattgat gtggaaaaaa aagagccggg
     1081 aaaagcttct gaaaccaaac aagggactgt aaaaattgca gcacaagcag cagctaagaa
     1141 ggatgaaaag aaggaagatt ccaagaaaac aaaaaaacct gcagaagtag aacaacccaa
     1201 gggaaaaaag caggaaaaga aagaaaaaca tgtggaacca gcaaagtcac caaagaaaga
     1261 acactcagtt ccaagtgaca aacaagtaaa agcaaaaact gaacgagcca aagaggagat
     1321 tggtgcggtt tcaagtaaaa aagctgtacc tggaaagaag gaagagaaaa caaccaagac
     1381 agtggagcaa gaaattagaa aagaaaaatc tgggaagact tcttcaattc tgaaagataa
     1441 agaacctatt aaagggaaag aagagaaagt tccagcttcc ctaaaggaaa aagaacctga
     1501 aactaaaaaa gatgaaaaga tgtccaaagc aggcaaagaa gtcaagccta aacctccaca
     1561 actacaagga aaaaaggaag agaagccaga gccccaaatt aaaaaagaag caaaaccagc
     1621 tatatctgaa aaagtgcaaa tacacaaaca agacatagtg aaaccagaaa agactgtttc
     1681 tcatggtaaa ccagaagaaa aagttctcaa gcaggtaaaa gctgtcacaa tagaaaaaac
     1741 agccaagccc aaaccaacaa aaaaagctga acatcgagaa agagaacctc catctataaa
     1801 aacagacaaa ccaaaaccaa ctccaaaagg aacatcagaa gtcacagaat caggaaagaa
     1861 gaaaactgaa atatctgaaa aagaaagtaa agaaaaagca gacatgaagc atcttagaga
     1921 agaaaaagtc tcaacaagaa aagaaagtct tcaattacac aatgtgacaa aagcagaaaa
     1981 acctgcaaga gtatcaaaag atgttgaaga tgtaccagct tcaaagaaag ctaaagaagg
     2041 aactgaagat gtgtctccca caaagcagaa aagtcccatc agtttcttcc agtgtgtcta
     2101 cttggatggg tacaatggct atggatttca gtttcctttc actcctgcag accgccctgg
     2161 agagagctct ggtcaagcaa attctccagg acagaagcaa caaggacagt aaacacacat
     2221 gtatgaccct tacaagtgct ttaagatttt aaaaatgtga tgttttgtcc acagtagttc
     2281 aggcaattaa gaatatgcaa cccagagaat ttctgtgaaa acattttgct ctttggcctg
     2341 gtgtggacgg aaagggtggc caaatggatt gagtgatgag cagacatgtt taagggtcta
     2401 agtctcaaga atctgttatg tgtgtttgct gcggtgggag ggggtgcttg tatttatctt
     2461 atttccagtc actataaggt tgtacacaaa ctaatttaaa gtttacttaa taatggtatc
     2521 tttaaaataa ttgacacaat tgcaaaatga attcctggct tcagttagct attatttttt
     2581 taatgacaac atagactgtg ctctaagttt aaaagatggg gaagcttata taaaagtgac
     2641 ccttttgcat catatgggta tctaaactta atttacccaa taagttgatg cttaatgatt
     2701 ttattttatt tttgtctatt ttctatttta gttgtggctt tgctctaaga atgggtaata
     2761 gttgtactac agactgctat aaatttcttg tgatactctt ttagagctca aaatatctct
     2821 gagctttaga catggtaagg tggagagtaa atgcttgata aatctttaag atatgtcttg
     2881 aatgataatt aggacattca gtccagtgga aatacaccat tcaattagtc aggtctggtg
     2941 aatttcc
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006691. Homo sapiens extr...[gi:5729910] Links  


LOCUS       XLKD1                   2313 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens extracellular link domain containing 1 (XLKD1), mRNA.
ACCESSION   NM_006691 NM_016164
VERSION     NM_006691.1  GI:5729910
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2313)
  AUTHORS   Banerji,S., Ni,J., Wang,S.X., Clasper,S., Su,J., Tammi,R., Jones,M.
            and Jackson,D.G.
  TITLE     LYVE-1, a new homologue of the CD44 glycoprotein, is a
            lymph-specific receptor for hyaluronan
  JOURNAL   J. Cell Biol. 144 (4), 789-801 (1999)
  MEDLINE   99156989
   PUBMED   10037799
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF118108.1.
            On Jul 31, 2001 this sequence version replaced gi:10835259.
FEATURES             Location/Qualifiers
     source          1..2313
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15"
     gene            1..2313
                     /gene="XLKD1"
                     /note="HAR; LYVE1; LYVE-1"
                     /db_xref="LocusID:10894"
                     /db_xref="MIM:605702"
     CDS             91..1059
                     /gene="XLKD1"
                     /note="member of LINK superfamily; HUVEC; lymphatic vessel
                     endothelial hyaluronan receptor 1; extracellular link
                     domain-containing 1; hyaluronic acid receptor"
                     /codon_start=1
                     /product="extracellular link domain containing 1"
                     /protein_id="NP_006682.1"
                     /db_xref="GI:5729911"
                     /db_xref="LocusID:10894"
                     /db_xref="MIM:605702"
                     /translation="MARCFSLVLLLTSIWTTRLLVQGSLRAEELSIQVSCRIMGITLV
                     SKKANQQLNFTEAKEACRLLGLSLAGKDQVDTALKASFETCSYGWVGDGFVVISRISP
                     NPKCGKNGVGVLIWKVPVSRQFGAYCYNSSDTWTNSRIPEIITTKDPIFNTQTATQTT
                     EFIVSDSTYSVASPYSTIPAPTTTPPAPASTSIPRRKKLICVTEVFMETSTMSTETEP
                     FVENKAAFKNEAAGFGGVPTALLVLALLFFGAAAGLGFCYVKRYVKAFPFTNKNQQKE
                     MIETKVVKEEKANDSNPNEESKKTDKNPEESKSPSKTTVRCLEAEV"
     misc_feature    208..480
                     /gene="XLKD1"
                     /note="Region: smart00445, LINK, Link
                     (Hyaluronan-binding)"
     misc_feature    208..477
                     /gene="XLKD1"
                     /note="Region: pfam00193, Xlink, Extracellular link
                     domain"
     misc_feature    247..480
                     /gene="XLKD1"
                     /note="Region: Link domain"
     variation       complement(1498)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:14248"
     variation       complement(1571)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3087671"
     variation       complement(1667)
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:14806"
     variation       2081
                     /gene="XLKD1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1062912"
     variation       complement(2177)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:4025"
     variation       complement(2196)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:14807"
BASE COUNT      713 a    508 c    471 g    621 t
ORIGIN      
        1 acgagcatcc ggactagtta ttgagcatct gcctctcata tcaccagtgg ccatctgagg
       61 tgtttccctg gctctgaagg ggtaggtgtg atggccaggt gcttcagcct ggtgttgctt
      121 ctcacttcca tctggactac gaggctcctg gtccaaggct ctttgcgtgc agaagagctt
      181 tccatccagg tgtcatgcag aattatgggg atcacccttg tgagcaaaaa ggcgaaccag
      241 cagctgaatt tcacagaagc taaggaggcc tgtaggctgc tgggactaag tttggccggc
      301 aaggaccaag ttgacacagc cttgaaagct agctttgaaa cttgcagcta tggctgggtt
      361 ggagatggat tcgtggtcat ctctaggatt agcccaaacc ccaagtgtgg gaaaaatggg
      421 gtgggtgtcc tgatttggaa ggttccagtg agccgacagt ttggagccta ttgttacaac
      481 tcatctgata cttggactaa ctcgcgcatt ccagaaatta tcaccaccaa agatcccata
      541 ttcaacactc aaactgcaac acaaacaaca gaatttattg tcagtgacag tacctactcg
      601 gtggcatccc cttactctac aatacctgcc cctactacta ctcctcctgc tccagcttcc
      661 acttctattc cacggagaaa aaaattgatt tgtgtcacag aagtttttat ggaaactagc
      721 accatgtcta cagaaactga accatttgtt gaaaataaag cagcattcaa gaatgaagct
      781 gctgggtttg gaggtgtccc cacggctctg ctagtgcttg ctctcctctt ctttggtgct
      841 gcagctggtc ttggattttg ctatgtcaaa aggtatgtga aggccttccc ttttacaaac
      901 aagaatcagc agaaggaaat gatcgaaacc aaagtagtaa aggaggagaa ggccaatgat
      961 agcaacccta atgaggaatc aaagaaaact gataaaaacc cagaagagtc caagagtcca
     1021 agcaaaacta ccgtgcgatg cctggaagct gaagtttaga tgagacagaa atgaggagac
     1081 acacctgagg ctggtttctt tcatgctcct taccctgccc cagctgggga aatcaaaagg
     1141 gccaaagaac caaagaagaa agtccaccct tggttcctaa ctggaatcag ctcaggactg
     1201 ccattggact atggagtgca ccaaagagaa tgcccttctc cttattgtaa ccctgtctgg
     1261 atcctatcct cctacctcca aagcttccca cggcctttct agcctggcta tgtcctaata
     1321 atatcccact gggagaaagg agttttgcaa agtgcaagga cctaaaacat ctcatcagta
     1381 tccagtggta aaaaggcctc ctggctgtct gaggctaggt gggttgaaag ccaaggagtc
     1441 actgagacca aggctttctc tactgattcc gcagctcaga ccctttcttc agctctgaaa
     1501 gagaaacacg tatcccacct gacatgtcct tctgagcccg gtaagagcaa aagaatggca
     1561 gaaaagttta gcccctgaaa gccatggaga ttctcataac ttgagaccta atctctgtaa
     1621 agctaaaata aagaaataga acaaggctga ggatacgaca gtacactgtc agcagggact
     1681 gtaaacacag acagggtcca agtgttttct ctgaacacat tgagttggaa tcactgttta
     1741 gaacacacac acttactttt tctggtctct accactgctg atattttctc taggaaatat
     1801 acttttacaa gtaacaaaaa taaaaactct tataaatttc tatttttatc tgagttacag
     1861 aaatgattac taaggaagat tactcagtaa tttgtttaaa aagtaataaa attcaacaaa
     1921 catttgctga atagctacta tatgtcaagt gctgtgcaag gtattacact ctgtaattga
     1981 atattattcc tcaaaaaatt gcacatagta gaacgctatc tgggaagcta tttttttcag
     2041 ttttgatatt tctagcttat ctacttccaa actaattttt atttttgctg agactaatct
     2101 tattcatttt ctctaatatg gcaaccatta taaccttaat ttattattaa catacctaag
     2161 aagtacattg ttacctctat ataccaaagc acattttaaa agtgccatta acaaatgtat
     2221 cactagccct cctttttcca acaagaaggg actgagagat gcagaaatat ttgtgacaaa
     2281 aaattaaagc atttagaaaa aaaaaaaaaa aaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006101. Homo sapiens high...[gi:5174456] Links  


LOCUS       HEC                     2150 bp    mRNA    linear   PRI 04-OCT-2002
DEFINITION  Homo sapiens highly expressed in cancer, rich in leucine heptad
            repeats (HEC), mRNA.
ACCESSION   NM_006101
VERSION     NM_006101.1  GI:5174456
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2150)
  AUTHORS   Chen,Y., Riley,D.J., Chen,P.L. and Lee,W.H.
  TITLE     HEC, a novel nuclear protein rich in leucine heptad repeats
            specifically involved in mitosis
  JOURNAL   Mol. Cell. Biol. 17 (10), 6049-6056 (1997)
  MEDLINE   97459704
   PUBMED   9315664
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF017790.1.
FEATURES             Location/Qualifiers
     source          1..2150
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.31"
     gene            1..2150
                     /gene="HEC"
                     /db_xref="LocusID:10403"
                     /db_xref="MIM:607272"
     CDS             105..2033
                     /gene="HEC"
                     /codon_start=1
                     /product="highly expressed in cancer, rich in leucine
                     heptad repeats"
                     /protein_id="NP_006092.1"
                     /db_xref="GI:5174457"
                     /db_xref="LocusID:10403"
                     /db_xref="MIM:607272"
                     /translation="MKRSSVSSGGAGRLSMQELRSQDVNKQGLYTPQTKEKPTFGKLS
                     INKPTSERKVSLFGKRTSGHGSRNSQLGIFSSSEKIKDPRPLNDKAFIQQCIRQLCEF
                     LTENGYAHNVSMKSLQAPSVKDFLKIFTFLYGFLCPSYELPDTKFEEEVPRIFKDLGY
                     PFALSKSSMYTVGAPHTWPHIVAALVWLIDCIKIHTAMKESSPLFDDGQPWGEETEDG
                     IMHNKLFLDYTIKCYESFMSGADSFDEMNAELQSKLKDLFNVDAFKLESLEAKNRALN
                     EQIARLEQEREKEPNRLESLRKLKASLQGDVQKYQAYMSNLESHSAILDQKLNGLNEE
                     IARVELECETIKQENTRLQNIIDNQKYSVADIERINHERNELQQTINKLTKDLEAEQQ
                     KLWNEELKYARGKEAIETQLAEYHKLARKLKLIPKGAENSKGYDFEIKFNPEAGANCL
                     VKYRAQVYVPLKELLNETEEEINKALNKKMGLEDTLEQLNAMITESKRSVRTLKEEVQ
                     KLDDLYQQKIKEAEEEDEKCASELESLEKHKHLLESTVNQGLSEAMNELDAVQREYQL
                     VVQTTTEERRKVGNNLQRLLEMVATHVGSVEKHLEEQIAKVDREYEECMSEDLSENIK
                     EIRDKYEKKATLIKSSEE"
     misc_feature    111..764
                     /gene="HEC"
                     /note="Ndc80_HEC; Region: HEC/Ndc80p family. Members of
                     this family are components of the mitotic spindle. It has
                     been shown that Ndc80/HEC from yeast is part of a complex
                     called the Ndc80p complex. This complex is thought to bind
                     to the microtubules of the spindle"
                     /db_xref="CDD:pfam03801"
     misc_feature    810..1538
                     /gene="HEC"
                     /note="V_ATPase_sub_a; Region: V-type ATPase 116kDa
                     subunit family. This family consists of the 116kDa V-type
                     ATPase (vacuolar (H+)-ATPases) subunits, as well as V-type
                     ATP synthase subunit i. The V-type ATPases family are
                     proton pumps that acidify intracellular compartments in
                     eukaryotic cells for example yeast central vacuoles,
                     clathrin-coated and synaptic vesicles. They have important
                     roles in membrane trafficking processes. The 116kDa
                     subunit (subunit a) in the V-type ATPase is part of the V0
                     functional domain responsible for proton transport. The a
                     subunit is a transmembrane glycoprotein with multiple
                     putative transmembrane helices it has a hydrophilic amino
                     terminal and a hydrophobic carboxy terminal. It has roles
                     in proton transport and assembly of the V-type ATPase
                     complex. This subunit is encoded by two homologous gene in
                     yeast VPH1 and STV1"
                     /db_xref="CDD:pfam01496"
     misc_feature    837..1262
                     /gene="HEC"
                     /note="Myosin_tail; Region: Myosin tail. The myosin
                     molecule is a multi-subunit complex made up of two heavy
                     chains and four light chains it is a fundamental
                     contractile protein found in all eukaryote cell types.
                     This family consists of the coiled-coil myosin heavy chain
                     tail region. The coiled-coil is composed of the tail from
                     two molecules of myosin. These can then assemble into the
                     macromolecular thick filament. The coiled-coil region
                     provides the structural backbone the thick filament"
                     /db_xref="CDD:pfam01576"
     misc_feature    870..1601
                     /gene="HEC"
                     /note="ERM; Region: Ezrin/radixin/moesin family. This
                     family of proteins contain a band 4.1 domain (pfam00373),
                     at their amino terminus. This family represents the rest
                     of these proteins"
                     /db_xref="CDD:pfam00769"
     misc_feature    921..1652
                     /gene="HEC"
                     /note="V_ATPase_sub_a; Region: V-type ATPase 116kDa
                     subunit family. This family consists of the 116kDa V-type
                     ATPase (vacuolar (H+)-ATPases) subunits, as well as V-type
                     ATP synthase subunit i. The V-type ATPases family are
                     proton pumps that acidify intracellular compartments in
                     eukaryotic cells for example yeast central vacuoles,
                     clathrin-coated and synaptic vesicles. They have important
                     roles in membrane trafficking processes. The 116kDa
                     subunit (subunit a) in the V-type ATPase is part of the V0
                     functional domain responsible for proton transport. The a
                     subunit is a transmembrane glycoprotein with multiple
                     putative transmembrane helices it has a hydrophilic amino
                     terminal and a hydrophobic carboxy terminal. It has roles
                     in proton transport and assembly of the V-type ATPase
                     complex. This subunit is encoded by two homologous gene in
                     yeast VPH1 and STV1"
                     /db_xref="CDD:pfam01496"
     misc_feature    1131..1562
                     /gene="HEC"
                     /note="Hemagglutinin; Region: Hemagglutinin. Hemagglutinin
                     from influenza virus causes membrane fusion of the viral
                     membrane with the host membrane. Fusion occurs after the
                     host cell internalises the virus by endocytosis. The drop
                     of pH causes release of a hydrophobic fusion peptide and a
                     large conformational change leading to membrane fusion"
                     /db_xref="CDD:pfam00509"
     variation       1917
                     /gene="HEC"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3210277"
     variation       1917
                     /gene="HEC"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:9051"
BASE COUNT      810 a    362 c    464 g    514 t
ORIGIN      
        1 ctcgagccac gaaggccccg ctgtcctgtc tagcagatac ttgcacggtt tacagaaatt
       61 cggtccctgg gtcgtgtcag gaaactggaa aaaaggtcat aagcatgaag cgcagttcag
      121 tttccagcgg tggtgctggc cgcctctcca tgcaggagtt aagatcccag gatgtaaata
      181 aacaaggcct ctatacccct caaaccaaag agaaaccaac ctttggaaag ttgagtataa
      241 acaaaccgac atctgaaaga aaagtctcgc tatttggcaa aagaactagt ggacatggat
      301 cccggaatag tcaacttggt atattttcca gttctgagaa aatcaaggac ccgagaccac
      361 ttaatgacaa agcattcatt cagcagtgta ttcgacaact ctgtgagttt cttacagaaa
      421 atggttatgc acataatgtg tccatgaaat ctctacaagc tccctctgtt aaagacttcc
      481 tgaagatctt cacatttctt tatggcttcc tgtgcccctc atacgaactt cctgacacaa
      541 agtttgaaga agaggttcca agaatcttta aagaccttgg gtatcctttt gcactatcca
      601 aaagctccat gtacacagtg ggggctcctc atacatggcc tcacattgtg gcagccttag
      661 tttggctaat agactgcatc aagatacata ctgccatgaa agaaagctca cctttatttg
      721 atgatgggca gccttgggga gaagaaactg aagatggaat tatgcataat aagttgtttt
      781 tggactacac cataaaatgc tatgagagtt ttatgagtgg tgccgacagc tttgatgaga
      841 tgaatgcaga gctgcagtca aaactgaagg atttatttaa tgtggatgct tttaagctgg
      901 aatcattaga agcaaaaaac agagcattga atgaacagat tgcaagattg gaacaagaaa
      961 gagaaaaaga accgaatcgt ctagagtcgt tgagaaaact gaaggcttcc ttacaaggag
     1021 atgttcaaaa gtatcaggca tacatgagca atttggagtc tcattcagcc attcttgacc
     1081 agaaattaaa tggtctcaat gaggaaattg ctagagtaga actagaatgt gaaacaataa
     1141 aacaggagaa cactcgacta cagaatatca ttgacaacca gaagtactca gttgcagaca
     1201 ttgagcgaat aaatcatgaa agaaatgaat tgcagcagac tattaataaa ttaaccaagg
     1261 acctggaagc tgaacaacag aagttgtgga atgaggagtt aaaatatgcc agaggcaaag
     1321 aagcgattga aacacaatta gcagagtatc acaaattggc tagaaaatta aaacttattc
     1381 ctaaaggtgc tgagaattcc aaaggttatg actttgaaat taagtttaat cccgaggctg
     1441 gtgccaactg ccttgtcaaa tacagggctc aagtttatgt acctcttaag gaactcctga
     1501 atgaaactga agaagaaatt aataaagccc taaataaaaa aatgggtttg gaggatactt
     1561 tagaacaatt gaatgcaatg ataacagaaa gcaagagaag tgtgagaact ctgaaagaag
     1621 aagttcaaaa gctggatgat ctttaccaac aaaaaattaa ggaagcagag gaagaggatg
     1681 aaaaatgtgc cagtgagctt gagtccttgg agaaacacaa gcacctgcta gaaagtactg
     1741 ttaaccaggg gctcagtgaa gctatgaatg aattagatgc tgttcagcgg gaataccaac
     1801 tagttgtgca aaccacgact gaagaaagac gaaaagtggg aaataacttg caacgtctgt
     1861 tagagatggt tgctacacat gttgggtctg tagagaaaca tcttgaggag cagattgcta
     1921 aagttgatag agaatatgaa gaatgcatgt cagaagatct ctcggaaaat attaaagaga
     1981 ttagagataa gtatgagaag aaagctactc taattaagtc ttctgaagaa tgaagataaa
     2041 atgttgatca tgtatatata tccatagtga ataaaattgt ctcagtaaaa aaaaaaaaaa
     2101 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  


&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002885. Homo sapiens RAP1...[gi:4506414] Links  


LOCUS       RAP1GA1                 3270 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens RAP1, GTPase activating protein 1 (RAP1GA1), mRNA.
ACCESSION   NM_002885
VERSION     NM_002885.1  GI:4506414
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3270)
  AUTHORS   Rubinfeld,B., Munemitsu,S., Clark,R., Conroy,L., Watt,K.,
            Crosier,W.J., McCormick,F. and Polakis,P.
  TITLE     Molecular cloning of a GTPase activating protein specific for the
            Krev-1 protein p21rap1
  JOURNAL   Cell 65 (6), 1033-1042 (1991)
  MEDLINE   91256304
   PUBMED   1904317
REFERENCE   2  (bases 1 to 3270)
  AUTHORS   Weiss,J., Rubinfeld,B., Polakis,P.G., McCormick,F., Cavenee,W.K.
            and Arden,K.C.
  TITLE     The RAP1GA1 locus for human Rap1-GTPase activating protein 1 maps
            to chromosome 1p36.1-->p35
  JOURNAL   Cytogenet. Cell Genet. 66 (1), 18-21 (1994)
  MEDLINE   94101870
   PUBMED   8275700
REFERENCE   3  (bases 1 to 3270)
  AUTHORS   Seki,N., Ohira,M., Nagase,T., Ishikawa,K., Miyajima,N.,
            Nakajima,D., Nomura,N. and Ohara,O.
  TITLE     Characterization of cDNA clones in size-fractionated cDNA libraries
            from human brain
  JOURNAL   DNA Res. 4 (5), 345-349 (1997)
  MEDLINE   98116662
   PUBMED   9455484
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M64788.1.
FEATURES             Location/Qualifiers
     source          1..3270
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.1-p35"
                     /tissue_type="brain"
                     /dev_stage="fetal"
                     /tissue_lib="Stratagene human fetal brain Cat#936206"
     gene            1..3270
                     /gene="RAP1GA1"
                     /note="KREV-1; SMGP21; RAP1GAP; KIAA0474"
                     /db_xref="LocusID:5909"
                     /db_xref="MIM:600278"
     variation       96
                     /gene="RAP1GA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1130564"
     CDS             202..2193
                     /gene="RAP1GA1"
                     /note="KIAA0474 gene product"
                     /codon_start=1
                     /product="RAP1, GTPase activating protein 1"
                     /protein_id="NP_002876.1"
                     /db_xref="GI:4506415"
                     /db_xref="LocusID:5909"
                     /db_xref="MIM:600278"
                     /translation="MIEKMQGSRMDEQRCSFPPPLKTEEDYIPYPSVHEVLGREGPFP
                     LILLPQFGGYWIEGTNHEITSIPETEPLQSPTTKVKLECNPTARIYRKHFLGKEHFNY
                     YSLDTALGHLVFSLKYDVIGDQEHLRLLLRTKCRTYHDVIPISCLTEFPNVVQMAKLV
                     CEDVNVDRFYPVLYPKASRLIVTFDEHVISNNFKFGVIYQKLGQTSEEELFSTNEESP
                     AFVEFLEFLGQKVKLQDFKGFRGGLDVTHGQTGTESVYCNFRNKEIMFHVSTKLPYTE
                     GDAQQLQRKRHIGNDIVAVVFQDENTPFVPDMIASNFLHAYVVVQAEGGGPDGPLYKV
                     SVTARDDVPFFGPPLPDPAVFRKGPEFQEFLLTKLINAEYACYKAEKFAKLEERTRAA
                     LLETLYEELHIHSQSMMGLGGDEDKMENGSGGGGFFESFKRVIRSRSQSMDAMGLSNK
                     KPNTVSTSHSGSFAPNNPDLAKAAGISLIVPGKSPTRKKSGPFGSRRSSAIGIENIQE
                     VQEKRESPPAGQKTPDSGHVSQEPKSENSSTQSSPEMPTTKNRAETAAQRAEALKDFS
                     RSSSSASSFASVVEETEGVDGEDTGLESVSSSGTPHKRDSFIYSTWLEDSVSTTSGGS
                     SPGPSRSPHPDAGKLGDPACPEIKIQLEASEQHMPQLGC"
     misc_feature    202..252
                     /gene="RAP1GA1"
                     /note="Region: smart00390, GoLoco, LGN motif, putative
                     GEFs specific for G-alpha GTPases; GEF specific for
                     Galpha_i proteins"
     misc_feature    829..1392
                     /gene="RAP1GA1"
                     /note="Region: pfam02145, Rap_GAP, Rap/ran-GAP"
     variation       456
                     /gene="RAP1GA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2275359"
     variation       1563
                     /gene="RAP1GA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2275365"
     variation       2441
                     /gene="RAP1GA1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1049396"
     variation       complement(3087)
                     /allele="-"
                     /allele="G"
                     /db_xref="dbSNP:3831947"
     variation       complement(3173)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1801038"
BASE COUNT      710 a   1003 c    941 g    616 t
ORIGIN      
        1 ggccgcgggc accagagtgc cgagcccagg acgcccccgg cccaggccct tggggtggac
       61 aagtccttca cttctcgccg gagtgtgtgg aggagcgatg ggcagaacca gcacttccct
      121 caggcactag acctgtcacg agtgaactta gttccctcct atactccttc actctaccct
      181 aagaacacag atctatttga gatgattgag aagatgcagg gaagcaggat ggatgaacaa
      241 cgctgctcct tcccgccgcc cctcaaaaca gaggaggact acattccata cccgagcgtg
      301 cacgaggtct tggggcgaga aggacccttc cccctcatcc tgctgcccca gtttgggggc
      361 tactggattg agggcaccaa ccacgaaatc accagcatcc ccgagacaga gccactgcag
      421 tcgcccacaa ccaaggtgaa gctcgagtgc aaccccacag cccgcatcta ccggaagcac
      481 tttctcggca aggagcattt caattactac tcactggaca ctgccctcgg ccaccttgtc
      541 ttctcactca agtacgatgt catcggggac caagagcacc tgcggctgct gctcaggacc
      601 aagtgccgga cataccatga tgtcatcccc atctcctgcc tcaccgagtt ccctaatgtt
      661 gtccagatgg caaagttggt gtgtgaagac gtcaatgtgg atcggttcta tcctgtgctc
      721 taccccaagg cttcccggct catcgtcacc tttgacgagc atgtcatcag caataacttc
      781 aagtttggcg tcatttatca gaagcttggg cagacctccg aggaagaact cttcagcacc
      841 aatgaggaaa gtcccgcttt cgtggagttc cttgaatttc ttggccagaa ggtcaaactg
      901 caggacttta aggggttccg aggaggcctg gacgtgaccc acgggcagac ggggaccgaa
      961 tctgtgtact gcaacttccg caacaaggag atcatgtttc acgtgtccac caagctgcca
     1021 tacacggaag gggacgccca gcagttgcag cggaagcggc acatcgggaa cgacatcgtg
     1081 gctgtggtct tccaggatga aaacactcct ttcgtgcccg acatgatcgc gtccaacttc
     1141 ctgcatgcct acgtcgtggt gcaggctgag ggcgggggcc ctgatggccc cctctacaag
     1201 gtctctgtca ctgcaagaga tgatgtgccc ttctttggac cccccctccc ggaccccgct
     1261 gtgttcagga aggggcctga gttccaggaa tttttgctga caaagctgat caatgctgaa
     1321 tatgcctgct acaaggcaga gaagtttgcc aaactggagg agcggacgcg ggccgccctc
     1381 ctggagacgc tctatgagga actacacatc cacagccagt ccatgatggg cttgggcggc
     1441 gacgaggaca agatggagaa tggcagtggg ggcggcggct tctttgagtc tttcaagcgg
     1501 gtcatccgga gccgcagcca gtccatggat gccatggggc tgagcaacaa gaagcccaac
     1561 accgtgtcca ccagccacag cgggagcttc gcgcccaaca accccgacct ggccaaggcg
     1621 gctggaatat cactgattgt ccctgggaag agccccacga ggaagaagtc gggcccgttc
     1681 ggctcccgcc gcagcagcgc cattggcatc gagaacatac aggaggtgca ggagaagagg
     1741 gagagccctc cggctggtca gaagacccca gacagcgggc acgtctcaca ggagcccaag
     1801 tcggagaact catccactca gagctcccca gagatgccca cgaccaagaa cagagcggag
     1861 accgcagcgc agagagcaga ggcgctcaag gacttctccc gctcctcgtc cagtgccagc
     1921 agcttcgcca gcgtggtgga ggagacggag ggtgtggacg gagaggacac aggcctggag
     1981 agcgtgtcat cctcaggaac accccacaag cgggactcct tcatctatag cacgtggctg
     2041 gaggacagtg tcagcaccac tagtgggggc agctccccag gcccctctcg atcaccccac
     2101 ccagacgccg gcaagttggg ggaccctgcg tgtcccgaga tcaagatcca gctggaagca
     2161 tctgagcagc acatgcccca gctgggctgt tagccgggcc accccctctg aaggtgaaac
     2221 tgagcagatg aggccacaga agcacaaggg gaaggtgccg tgtcaagccc aggcagacga
     2281 gacctctgcc ctgaagacca acaccagccc gtgggctgcc ccctgcctcc ccaccctccc
     2341 catggcccac ccatctgggc tgtctctgca gggcagagcc gtccagacct gggatcaggg
     2401 aagctgctgg catcgtcccc acccccagcc tgggggtctg cgctggggca gggattgctc
     2461 agtggaagca ggactggggg tctggcttgc cccctccctg ggcctccatc acccctgagc
     2521 atccctctgg actcagaggg aacaaggtgg gagagagagt ttgagacagc tccgtgtgga
     2581 gagcttagcc cctggaggca gcacaaggag gatgtgatat gtgggggagt gagcactggg
     2641 ttgggagccg ggtcctggtt tccaatttgg gttctgctgt gtgactctgg gcaagtcact
     2701 ctccctctct gggcatgtct gctacaaatg gacaagatta tttcagaggt cactgaagac
     2761 tgtgattaca tgcacctgcc ttagaaggta ggattttctt cccagggacc tcctatcacc
     2821 ctaccctgct tcttgaggtc cctggagccc caggtgggct gaggggcagg gagccggctg
     2881 tgcccagtat gcctcctgga ccctccagtt ctgccacagg tctgccgatg ccctgtccac
     2941 tgcctacaca tgacagacaa gtaaccccct catgggggat ggggacctac ctggctcctc
     3001 agccagcacc cagcttaacc cctgccatcc catgctgggc cctccaggcc aagagtctca
     3061 gctggccgag agtccaggcc ttgcctcccc cgaccgccat ggagggggca gcccggcaca
     3121 gctgctggga gcccttgtgt gtctggtcac actttttagg cgtcacgcca aaggccagcc
     3181 tcctggcccc aatacccatt ttggaagccc ctgtggccgt gtggatgtcg gtaacagttg
     3241 tataaaataa attctattta tcgctattgt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005639. Homo sapiens syna...[gi:5032138] Links  


LOCUS       SYT1                    3244 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens synaptotagmin 1 (SYT1), mRNA.
ACCESSION   NM_005639
VERSION     NM_005639.1  GI:5032138
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3244)
  AUTHORS   Perin,M.S., Johnston,P.A., Ozcelik,T., Jahn,R., Francke,U. and
            Sudhof,T.C.
  TITLE     Structural and functional conservation of synaptotagmin (p65) in
            Drosophila and humans
  JOURNAL   J. Biol. Chem. 266 (1), 615-622 (1991)
  MEDLINE   91093190
   PUBMED   1840599
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from M55047.1.
FEATURES             Location/Qualifiers
     source          1..3244
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12cen-q21"
     gene            1..3244
                     /gene="SYT1"
                     /note="P65; SVP65; SYT"
                     /db_xref="LocusID:6857"
                     /db_xref="MIM:185605"
     CDS             28..1296
                     /gene="SYT1"
                     /codon_start=1
                     /product="synaptotagmin 1"
                     /protein_id="NP_005630.1"
                     /db_xref="GI:5032139"
                     /db_xref="LocusID:6857"
                     /db_xref="MIM:185605"
                     /translation="MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLK
                     EKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCICKKCLFKKKNKKKGKEKGGKNAI
                     NMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLL
                     VGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYS
                     ELGGKTLVMAVYDFDRFSKHDIIGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGD
                     ICFSLRYVPTAGKLTVVILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTIKKN
                     TLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWS
                     DMLANPRRPIAQWHTLQVEEEVDAMLAVKK"
     misc_feature    499..840
                     /gene="SYT1"
                     /note="C2; Region: Protein kinase C conserved region 2
                     (CalB)"
                     /db_xref="CDD:C2"
     misc_feature    502..759
                     /gene="SYT1"
                     /note="C2; Region: C2 domain"
                     /db_xref="CDD:pfam00168"
     misc_feature    892..1230
                     /gene="SYT1"
                     /note="C2; Region: Protein kinase C conserved region 2
                     (CalB)"
                     /db_xref="CDD:C2"
     misc_feature    895..1161
                     /gene="SYT1"
                     /note="C2; Region: C2 domain"
                     /db_xref="CDD:pfam00168"
     variation       2862
                     /gene="SYT1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1245667"
BASE COUNT     1054 a    615 c    670 g    905 t
ORIGIN      
        1 taatagaaca cttcacctga acctaaaatg gtgagcgaga gtcaccatga ggccctggca
       61 gccccgcctg tcaccactgt cgcgactgtt ctgccaagca atgccacaga gccagccagt
      121 cctggagaag gaaaggaaga tgcattttct aagctgaagg agaagtttat gaatgagttg
      181 cataaaattc cattgccacc gtgggcctta attgcaatag ccatagtcgc agtcctttta
      241 gtcctgacct gctgcttttg tatctgtaag aaatgtttgt tcaaaaagaa aaacaagaag
      301 aagggaaagg aaaaaggagg gaagaatgcc attaacatga aagatgtaaa agacttaggg
      361 aagacgatga aagatcaggc cctcaaggat gatgatgctg aaactggatt gacagatgga
      421 gaagaaaaag aagaacccaa agaagaggag aaactgggaa aacttcagta ttcactggat
      481 tatgatttcc aaaataacca gctgctggta gggatcattc aggctgctga actgcccgcc
      541 ttggacatgg ggggcacatc tgatccttac gtgaaagtgt ttctgctacc tgataagaag
      601 aagaaatttg agacaaaagt ccaccgaaaa acccttaatc ctgtcttcaa tgagcaattt
      661 actttcaagg taccatactc ggaattgggt ggcaaaaccc tagtgatggc tgtatatgat
      721 tttgatcgtt tctctaagca tgacatcatt ggagaattta aagtccctat gaacacagtg
      781 gattttggcc atgtaactga ggaatggcgt gacctgcaaa gtgctgagaa ggaagagcaa
      841 gagaaattgg gtgatatctg cttctccctt cgctacgtac ctactgctgg taagctgact
      901 gttgtcattc tggaggcaaa gaacctgaag aagatggatg tgggtggctt atccgatcct
      961 tatgtgaaga ttcatctgat gcagaatggt aagaggctga agaagaaaaa gacaacaatt
     1021 aaaaagaaca cacttaaccc ctactacaat gagtcattca gctttgaagt accttttgaa
     1081 caaatccaga aagtgcaggt ggtggtaact gttttggact atgacaagat tggcaagaac
     1141 gatgccatcg gcaaagtctt tgtgggctac aacagcaccg gcgcggagct gcgacactgg
     1201 tcagacatgc tggccaaccc caggcgacct attgcccagt ggcacaccct gcaggtagag
     1261 gaggaagttg atgccatgct ggccgtcaag aagtaaagga aagaagaagc ctttctgcat
     1321 ttgcccatat agtgctcttt agccagtatc tgtaaatacc tcagtaatat gggtcctttc
     1381 atttttccag ccatgcattc ctaacacaat tcagtggtac ttggaatcct gttttaattt
     1441 gcacaaattt aaatgtagag agcccctaag tccttcatca taccactgcc ctccaaatct
     1501 actcttcttt taagcaatat gatgtgtaga tagagcatga atgaaattat ttattgtatc
     1561 acactgttgt atataccagt atgctaaaga tttatttcta gtttgtgtat ttgtatgttg
     1621 taagcgtttc ctaatctgtg tatatctaga tgtttttaat aagatgttct attttaaact
     1681 atgtaaattg actgagatat aggagagctg ataatatatt atacggtaaa tatagtatcg
     1741 tctgcattcc agcaaaaata tcaactcgta aggcactagt acagttaaac tgacatctta
     1801 aaggacaact taaacctgag ctttctattg aatcatttga gtaccaagat aaacttacac
     1861 cacatacttg gtgggtgaat ccaattttgt agaattccta cacaggcaaa atagcatgat
     1921 ctgagcagca gcatccaggc tgacctcaag gaagcatagc cacaaaacag aatagcacct
     1981 gtctgtacat atttacaaag ctaaaataat ggcttcactc ttatatttga ggaagcaact
     2041 gaacaggagt caatgatttc atattactgc atatagaata acaacaaggt gttccgtgtg
     2101 tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg cacatttgtt tggggatggg
     2161 ggagaagaag ctaaggggag aagtcaacat ttatgaaata ttgcctgact atttaaaaag
     2221 aaaaaagtag ctctccatta tcacctttat acaaaatgta catcctgtga attctgttcc
     2281 agatttcaca cctacaataa ttccaaaagg tttgcacatt agagtttgta acaaaatatt
     2341 ttattatata aaaccaggtt agaaggaatg caggatattt ttaacacaac aatctgtgct
     2401 tattacacaa aattactttg tggtaaacag acagtattgt aatcccatca aaagatgaaa
     2461 gaaaaacaaa aacaaaaacc aacaacaatt agccatagtt ctgaatgcac ttcaattaag
     2521 ccaaaacaga cagctagtga tctttttata tgctcttttt acttaagttt taatttgtcc
     2581 tttaaaaaaa ggtgaaacaa accaagaaca agttctagaa aactgaagca acctcttatg
     2641 tatactagat gcttgattta ggaggagttt ttaaacgttt tcaatgttat tatgtagtaa
     2701 atgacactat tatgaagcta ctagtcattc cataagagtc ttaaaggact gctctgtgta
     2761 cactgtgact gccgtgtgtg cttagacccg tagtttcctc agtggatagc actcaattta
     2821 ttccgtagtg atattgtaac aatactgcca ttcccttcta ctgcactgcc caaggtgtgt
     2881 gtagcacaaa cagttctcat tacaaaggac caattcagaa ctgaaaagct atgcatagga
     2941 caaggaagat acatagaatg gggtggaaca cagcattttg tcaagcactg tgcaatattc
     3001 catatttttc cccactatgg tagacaacca tttcgtggaa gggcagccta ttatcccaca
     3061 ctgcatctag ccttttgtcc cattcacttc tgtgatccat tttaatttcc aggccacaag
     3121 acagtagtga tgctctgaaa tgaaagtttg tcttcacaaa tatcaaaaca aaatggagga
     3181 aaactaagca ttggcctcat gttcagtctt caggatatca caccacgtct tttcaaaaac
     3241 taaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001902. Homo sapiens cyst...[gi:21361333] Links  


LOCUS       CTH                     1831 bp    mRNA    linear   PRI 25-OCT-2002
DEFINITION  Homo sapiens cystathionase (cystathionine gamma-lyase) (CTH),
            transcript variant 1, mRNA.
ACCESSION   NM_001902
VERSION     NM_001902.2  GI:21361333
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1831)
  AUTHORS   Lu,Y., O'Dowd,B.F., Orrego,H. and Israel,Y.
  TITLE     Cloning and nucleotide sequence of human liver cDNA encoding for
            cystathionine gamma-lyase
  JOURNAL   Biochem. Biophys. Res. Commun. 189 (2), 749-758 (1992)
  MEDLINE   93112041
   PUBMED   1339280
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC015807.1.
            On Jun 10, 2002 this sequence version replaced gi:4503124.
FEATURES             Location/Qualifiers
     source          1..1831
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
                     /clone="MGC:9471 IMAGE:3915913"
                     /tissue_type="Skin, melanotic melanoma."
                     /clone_lib="NIH_MGC_72"
                     /lab_host="DH10B"
                     /note="Vector: pCMV-SPORT6"
     gene            1..1831
                     /gene="CTH"
                     /note="MGC9471"
                     /db_xref="LocusID:1491"
                     /db_xref="MIM:219500"
     CDS             157..1374
                     /gene="CTH"
                     /EC_number="4.4.1.1"
                     /note="cystathionine gamma-lyase"
                     /codon_start=1
                     /product="cystathionase isoform 1"
                     /protein_id="NP_001893.2"
                     /db_xref="GI:21361334"
                     /db_xref="LocusID:1491"
                     /db_xref="MIM:219500"
                     /translation="MQEKDASSQGFLPHFQHFATQAIHVGQDPEQWTSRAVVPPISLS
                     TTFKQGAPGQHSGFEYSRSGNPTRNCLEKAVAALDGAKYCLAFASGLAATVTITHLLK
                     AGDQIICMDDVYGGTNRYFRQVASEFGLKISFVDCSKIKLLEAAITPETKLVWIETPT
                     NPTQKVIDIEGCAHIVHKHGDIILVVDNTFMSPYFQRPLALGADISMYSATKYMNGHS
                     DVVMGLVSVNCESLHNRLRFLQNSLGAVPSPIDCYLCNRGLKTLHVRMEKHFKNGMAV
                     AQFLESNPWVEKVIYPGLPSHPQHELVKRQCTGCTGMVTFYIKGTLQHAEIFLKNLKL
                     FTLAESLGGFESLAELPAIMTHASVLKNDRDVLGISDTLIRLSVGLEDEEDLLEDLDQ
                     ALKAAHPPSGSHS"
     misc_feature    211..1341
                     /gene="CTH"
                     /note="Cys_Met_Meta_PP; Region: Cys/Met metabolism
                     PLP-dependent enzyme. This family includes enzymes
                     involved in cysteine and methionine metabolism. The
                     following are members: Cystathionine gamma-lyase,
                     Cystathionine gamma-synthase, Cystathionine beta-lyase,
                     Methionine gamma-lyase, OAH/OAS sulfhydrylase,
                     O-succinylhomoserine sulfhydrylase All of these members
                     participate is slightly different reactions. All these
                     enzymes use PLP (pyridoxal-5'-phosphate) as a cofactor"
                     /db_xref="CDD:pfam01053"
     misc_feature    262..720
                     /gene="CTH"
                     /note="aminotran_5; Region: Aminotransferase class-V"
                     /db_xref="CDD:pfam00266"
     misc_feature    340..879
                     /gene="CTH"
                     /note="DegT_DnrJ_EryC1; Region: DegT/DnrJ/EryC1/StrS
                     aminotransferase family. The members of this family are
                     probably all pyridoxal-phosphate-dependent
                     aminotransferase enzymes with a variety of molecular
                     functions. The family includes StsA, StsC and StsS. The
                     aminotransferase activity was demonstrated for purified
                     StsC protein as the L-glutamine:scyllo-inosose
                     aminotransferase EC:2.6.1.50, which catalyzes the first
                     amino transfer in the biosynthesis of the streptidine
                     subunit of streptomycin"
                     /db_xref="CDD:pfam01041"
     variation       1364
                     /gene="CTH"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1128455"
     variation       1364
                     /gene="CTH"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3185428"
BASE COUNT      485 a    391 c    387 g    568 t
ORIGIN      
        1 cccacgcgtc cgctttagtg cgctcgccgt cggctctacc tgcgtgcttt agctccttct
       61 cgcctgatcc ttctgtctct cccaaccccg gacacccggc ttcgactggt tatatcttcg
      121 gtgttctttt cctctcttct tctttcgcgg ttcagcatgc aggaaaaaga cgcctcctca
      181 caaggtttcc tgccacactt ccaacatttc gccacgcagg cgatccatgt gggccaggat
      241 ccagagcaat ggacctccag ggctgtagtg ccccccatct cactgtccac cacgttcaag
      301 caaggggcgc ctggccagca ctcgggtttt gaatatagcc gttctggaaa tcccactagg
      361 aattgccttg aaaaagcagt ggcagcactg gatggggcta agtactgttt ggcctttgct
      421 tcaggtttag cagccactgt aactattacc catcttttaa aagcaggaga ccaaattatt
      481 tgtatggatg atgtgtatgg aggtacaaac aggtacttca ggcaagtggc atctgaattt
      541 ggattaaaga tttcttttgt tgattgttcc aaaatcaaat tactagaggc agcaattaca
      601 ccagaaacca agcttgtttg gatcgaaacc cccacaaacc ccacccagaa ggtgattgac
      661 attgaaggct gtgcacatat tgtccataag catggagaca ttattttggt cgtggataac
      721 acttttatgt caccatattt ccagcgccct ttggctctgg gagctgatat ttctatgtat
      781 tctgcaacaa aatacatgaa tggccacagt gatgttgtaa tgggcctggt gtctgttaat
      841 tgtgaaagcc ttcataatag acttcgtttc ttgcaaaact ctcttggagc agttccatct
      901 cctattgatt gttacctctg caatcgaggt ctgaagactc tacatgtccg aatggaaaag
      961 catttcaaaa acggaatggc agttgcccag ttcctggaat ctaatccttg ggtagaaaag
     1021 gttatttatc ctgggctgcc ctctcatcca cagcatgagt tggtgaagcg tcagtgtaca
     1081 ggttgtacag ggatggtcac cttttatatt aagggcactc ttcagcatgc tgagattttc
     1141 ctcaagaacc taaagctatt tactctggcc gagagcttgg gaggattcga aagccttgct
     1201 gagcttccgg caatcatgac tcatgcatca gttcttaaga atgacagaga tgtccttgga
     1261 attagtgaca cactgattcg actttctgtg ggcttagagg atgaggaaga cctactggaa
     1321 gatctagatc aagctttgaa ggcagcacac cctccaagtg gaagtcacag ctagtattcc
     1381 agagctgcta ttagaagctg cttcctgtga agatcaaatc ttcctgagta attaaatgga
     1441 ccaacaatga gcctttgcaa aattttcaag cggaaatttt aaggcacctc attatctttc
     1501 ataactgtaa ttttcttagg gatcatctct gttaaaaagt tttctgtatg tcatgttata
     1561 attacaggtc aattctgtta atatcttttt gttaattttg ctctatgttt gcctctgaag
     1621 gaggtgagat ttgtgctact ttgggagatt atgttctttt ttcatgtcta agatttattt
     1681 tgatcatgtt tataatataa tggtaattca tttttgatgt tttgtgaaga atttaaattt
     1741 aaacgaatgt tcttaaatca agtgtgattt ttttgcatat cattgaaaag aacattaaaa
     1801 gcaatggttt acacttaaaa aaaaaaaaaa a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000370. Homo sapiens toco...[gi:4507722] Links  


LOCUS       TTPA                    1199 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens tocopherol (alpha) transfer protein (ataxia
            (Friedreich-like) with vitamin E deficiency) (TTPA), mRNA.
ACCESSION   NM_000370
VERSION     NM_000370.1  GI:4507722
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1199)
  AUTHORS   Ben Hamida,C., Doerflinger,N., Belal,S., Linder,C., Reutenauer,L.,
            Dib,C., Gyapay,G., Vignal,A., Le Paslier,D., Cohen,D. et al.
  TITLE     Localization of Friedreich ataxia phenotype with selective vitamin
            E deficiency to chromosome 8q by homozygosity mapping
  JOURNAL   Nat. Genet. 5 (2), 195-200 (1993)
  MEDLINE   94073198
   PUBMED   8252047
REFERENCE   2  (bases 1 to 1199)
  AUTHORS   Ouahchi,K., Arita,M., Kayden,H., Hentati,F., Ben Hamida,M.,
            Sokol,R., Arai,H., Inoue,K., Mandel,J.L. and Koenig,M.
  TITLE     Ataxia with isolated vitamin E deficiency is caused by mutations in
            the alpha-tocopherol transfer protein
  JOURNAL   Nat. Genet. 9 (2), 141-145 (1995)
  MEDLINE   95235558
   PUBMED   7719340
REFERENCE   3  (bases 1 to 1199)
  AUTHORS   Arita,M., Sato,Y., Miyata,A., Tanabe,T., Takahashi,E., Kayden,H.J.,
            Arai,H. and Inoue,K.
  TITLE     Human alpha-tocopherol transfer protein: cDNA cloning, expression
            and chromosomal localization
  JOURNAL   Biochem. J. 306 (Pt 2), 437-443 (1995)
  MEDLINE   95194318
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from D49488.1.
FEATURES             Location/Qualifiers
     source          1..1199
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.1-q13.3"
                     /clone="lambda hTTP[1-2, 3-1, 3-2, 5-1, 5-2] and hTTP9"
                     /tissue_type="liver"
                     /clone_lib="lambda gt11"
     gene            1..1199
                     /gene="TTPA"
                     /note="AVED; TTP1"
                     /db_xref="LocusID:7274"
                     /db_xref="MIM:600415"
     CDS             19..855
                     /gene="TTPA"
                     /note="Tocopherol (alpha) transfer protein"
                     /codon_start=1
                     /product="tocopherol (alpha) transfer protein (ataxia
                     (Friedreich-like) with vitamin E deficiency)"
                     /protein_id="NP_000361.1"
                     /db_xref="GI:4507723"
                     /db_xref="LocusID:7274"
                     /db_xref="MIM:600415"
                     /translation="MAEARSQPSAGPQLNALPDHSPLLQPGLAALRRRAREAGVPLAP
                     LPLTDSFLLRFLRARDFDLDLAWRLLKNYYKWRAECPEISADLHPRSIIGLLKAGYHG
                     VLRSRDPTGSKVLIYRIAHWDPKVFTAYDVFRVSLITSELIVQEVETQRNGIKAIFDL
                     EGWQFSHAFQITPSVAKKIAAVLTDSFPLKVRGIHLINEPVIFHAVFSMIKPFLTEKI
                     KERIHMHGNNYKQSLLQHFPDILPLEYGGEEFSMEDICQEWTNFIMKSEDYLSSISES
                     IQ"
     misc_feature    283..843
                     /gene="TTPA"
                     /note="Region: pfam00650, CRAL_TRIO, CRAL/TRIO domain. The
                     original profile has been extended to include the carboxyl
                     domain from the known structure of Sec14"
     misc_feature    304..765
                     /gene="TTPA"
                     /note="Region: smart00516, SEC14, Domain in homologues of
                     a S. cerevisiae phosphatidylinositol transfer protein
                     (Sec14p); Domain in homologues of a S. cerevisiae
                     phosphatidylinositol transfer protein (Sec14p) and in
                     RhoGAPs, RhoGEFs and the RasGEF, neurofibromin (NF1).
                     Lipid-binding domain. The SEC14 domain of Dbl is known to
                     associate with G protein beta/gamma subunits"
BASE COUNT      334 a    261 c    270 g    334 t
ORIGIN      
        1 gcagcagcgg cggcgggcat ggcagaggcg cgatcccagc cctcggcggg gccgcagctc
       61 aacgcgctac cggaccactc tccgttgctg cagccgggcc tggcggcgct gcggcgccgg
      121 gcccgggaag ctggcgtccc gctcgcgccg ctgccgctca ccgactcctt cctgctgcgg
      181 ttcctgcgcg cccgggattt cgatctggac ctggcctggc ggttactaaa aaactattat
      241 aagtggagag cagaatgtcc agaaataagt gcagatctac accctagaag tattattggc
      301 ctcctaaagg ctggctacca tggagtcctg agatccaggg atcccactgg cagcaaagtt
      361 cttatttaca gaatcgcaca ctgggacccc aaagttttta cagcttatga cgtatttcga
      421 gtaagtctaa tcacatccga gcttattgta caggaggtag aaactcagcg gaatggaatc
      481 aaggctatct ttgatctgga aggttggcag ttttctcatg cttttcaaat cactccatcc
      541 gtagccaaga agattgctgc tgtacttacg gattcatttc cattgaaagt tcgtggcatc
      601 catttgataa atgaaccagt aattttccat gctgtctttt ccatgatcaa accattcctg
      661 actgaaaaaa ttaaggaacg gattcacatg catgggaaca actacaaaca aagcttgctt
      721 cagcatttcc cagacattct tcctctggaa tatggtggtg aagaattctc catggaggac
      781 atttgtcagg aatggacaaa ttttataatg aagtctgaag attatctcag cagcatttct
      841 gagagcattc aatgagaagt tatgtcatgt gaatggcttc ctaactaaaa atacatgagt
      901 gatatccaac ctggttaaat gaatgaaaga aaaggagcaa atcttttaaa ctaatgcttg
      961 cctgaacttt aaaaatgtag aaatcttctg acatgagcaa cacaggtgtt tggaaagatt
     1021 ttttactttt taaatgcttt tttctctact tttgaagtaa ttaaatgtca gtacatttta
     1081 agagcataaa aatcggcgat tttgtacttg aagagaacat gaaagttatt gctaaagtag
     1141 ctgctcatgt gcatctttgt atgtttctag aaagttatat tttaaacaag ttctctgat
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003633. Homo sapiens ecto...[gi:4505460] Links  


LOCUS       ENC1                    4827 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens ectodermal-neural cortex (with BTB-like domain)
            (ENC1), mRNA.
ACCESSION   NM_003633
VERSION     NM_003633.1  GI:4505460
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4827)
  AUTHORS   Polyak,K., Xia,Y., Zweier,J.L., Kinzler,K.W. and Vogelstein,B.
  TITLE     A model for p53-induced apoptosis
  JOURNAL   Nature 389 (6648), 300-305 (1997)
  MEDLINE   97449378
   PUBMED   9305847
REFERENCE   2  (bases 1 to 4827)
  AUTHORS   Kim,T.A., Lim,J., Ota,S., Raja,S., Rogers,R., Rivnay,B., Avraham,H.
            and Avraham,S.
  TITLE     NRP/B, a novel nuclear matrix protein, associates with p110(RB) and
            is involved in neuronal differentiation
  JOURNAL   J. Cell Biol. 141 (3), 553-566 (1998)
  MEDLINE   98234394
   PUBMED   9566959
REFERENCE   3  (bases 1 to 4827)
  AUTHORS   Hernandez,M.C., Andres-Barquin,P.J., Holt,I. and Israel,M.A.
  TITLE     Cloning of human ENC-1 and evaluation of its expression and
            regulation in nervous system tumors
  JOURNAL   Exp. Cell Res. 242 (2), 470-477 (1998)
  MEDLINE   98350113
   PUBMED   9683534
REFERENCE   4  (bases 1 to 4827)
  AUTHORS   Hernandez,M.C., Andres-Barquin,P.J., Kuo,W.L. and Israel,M.A.
  TITLE     Assignment of the ectodermal-neural cortex 1 gene (ENC1) to human
            chromosome band 5q13 by in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 87 (1-2), 89-90 (1999)
  MEDLINE   20108793
   PUBMED   10640818
REFERENCE   5  (bases 1 to 4827)
  AUTHORS   Kim,T.A., Ota,S., Jiang,S., Pasztor,L.M., White,R.A. and Avraham,S.
  TITLE     Genomic organization, chromosomal localization and regulation of
            expression of the neuronal nuclear matrix protein NRP/B in human
            brain tumors
  JOURNAL   Gene 255 (1), 105-116 (2000)
  MEDLINE   20432121
   PUBMED   10974570
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF059611.1.
            Summary: DNA damage and/or hyperproliferative signals activate
            wildtype p53 tumor suppressor protein (TP53; MIM 191170), inducing
            cell cycle arrest or apoptosis. Mutations that inactivate p53 occur
            in 50% of all tumors. Polyak et al. (1997) [PubMed 9305847] used
            serial analysis of gene expression (SAGE) to evaluate cellular mRNA
            levels in a colorectal cancer cell line transfected with p53. Of
            7,202 transcripts identified, only 14 were expressed at levels more
            than 10-fold higher in p53-expressing cells than in control cells.
            Polyak et al. (1997) [PubMed 9305847] termed these genes
            'p53-induced genes,' or PIGs, several of which were predicted to
            encode redox-controlling proteins. They noted that reactive oxygen
            species (ROS) are potent inducers of apoptosis. Flow cytometric
            analysis showed that p53 expression induces ROS production, which
            increases as apoptosis progresses under some conditions. The
            authors stated that the PIG10 gene, also called ENC1, encodes an
            actin-binding protein.[supplied by OMIM].
FEATURES             Location/Qualifiers
     source          1..4827
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q12-q13.3"
     gene            1..4827
                     /gene="ENC1"
                     /note="NRPB; CCL28; ENC-1; PIG10"
                     /db_xref="LocusID:8507"
                     /db_xref="MIM:605173"
     variation       395
                     /gene="ENC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3193223"
     CDS             400..2169
                     /gene="ENC1"
                     /function="associates with p110(RB)"
                     /note="nuclear restricted protein, BTB domain-like
                     (brain)"
                     /codon_start=1
                     /product="ectodermal-neural cortex (with BTB-like domain)"
                     /protein_id="NP_003624.1"
                     /db_xref="GI:4505461"
                     /db_xref="LocusID:8507"
                     /db_xref="MIM:605173"
                     /translation="MSVSVHENRKSRASSGSINIYLFHKSSYADSVLTHLNLLRQQRL
                     FTDVLLHAGNRTFPCHRAVLAACSRYFEAMFSGGLKESQDSEVNFDNSIHPEVLELLL
                     DYAYSSRVIINEENAESLLEAGDMLEFQDIRDACAEFLEKNLHPTNCLGMLLLSDAHQ
                     CTKLYELSWRMCLSNFQTIRKNEDFLQLPQDMVVQLLSSEELETEDERLVYESAINWI
                     SYDLKKRYCYLPELLQTVRLALLPAIYLMENVAMEELITKQRKSKEIVEEAIRCKLKI
                     LQNDGVVTSLCARPRKTGHALFLLGGQTFMCDKLYLVDQKAKEIIPKADIPSPRKEFS
                     ACAIGCKVYITGGRGSENGVSKDVWVYDTLHEEWSKAAPMLVARFGHGSAELKHCLYV
                     VGGHTAATGCLPASPSVSLKQVEHYDPTINKWTMVAPLREGVSNAAVVSAKLKLFAFG
                     GTSVSHDKLPKVQCYDQCENRWTVPATCPQPWRYTAAAVLGNQIFIMGGDTEFSACSA
                     YKFNSETYQWTKVGDVTAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVWN
                     SITTVPYSLIPTAFVSTWKHLPS"
     misc_feature    481..813
                     /gene="ENC1"
                     /note="Region: BTB/POZ domain"
     misc_feature    505..831
                     /gene="ENC1"
                     /note="Region: pfam00651, BTB, BTB/POZ domain. The BTB
                     (for BR-C, ttk and bab) or POZ (for Pox virus and Zinc
                     finger) domain is present near the N-terminus of a
                     fraction of zinc finger (pfam00096) proteins and in
                     proteins that contain the pfam01344 motif such as Kelch
                     and a family of pox virus proteins. The BTB/POZ domain
                     mediates homomeric dimerisation and in some instances
                     heteromeric dimerisation. The structure of the dimerised
                     PLZF BTB/POZ domain has been solved and consists of a
                     tightly intertwined homodimer. The central scaffolding of
                     the protein is made up of a cluster of alpha-helices
                     flanked by short beta-sheets at both the top and bottom of
                     the molecule. POZ domains from several zinc finger
                     proteins have been shown to mediate transcriptional
                     repression and to interact with components of histone
                     deacetylase co-repressor complexes including N-CoR and
                     SMRT. The POZ or BTB domain is also known as BR-C/Ttk or
                     ZiN"
     misc_feature    538..828
                     /gene="ENC1"
                     /note="Region: smart00225, BTB, Broad-Complex, Tramtrack
                     and Bric a brac; Domain in Broad-Complex, Tramtrack and
                     Bric a brac. Also known as POZ (poxvirus and zinc finger)
                     domain. Known to be a protein-protein interaction motif
                     found at the N-termini of several C2H2-type transcription
                     factors as well as Shaw-type potassium channels. Known
                     structure reveals a tightly intertwined dimer formed via
                     interactions between N-terminal strand and helix
                     structures. However in a subset of BTB/POZ domains, these
                     two secondary structures appear to be missing. Be aware
                     SMART predicts BTB/POZ domains without the beta1- and
                     alpha1-secondary structures"
     misc_feature    1285..1419
                     /gene="ENC1"
                     /note="Region: kelch motif I"
     misc_feature    1384..1527
                     /gene="ENC1"
                     /note="Region: LOAD_kelch, kelch, A beta propeller domain
                     involved in protein-protein interactions and some
                     enzymatic actvities like gycolate oxidase"
     misc_feature    1384..1521
                     /gene="ENC1"
                     /note="Region: pfam01344, Kelch, Kelch motif. The kelch
                     motif was initially discovered in Kelch. In this protein
                     there are six copies of the motif. It has been shown that
                     one member is related to Galactose Oxidase for which a
                     structure has been solved. The kelch motif forms a beta
                     sheet. Several of these sheets associate to form a beta
                     propeller structure as found in pfam00064, pfam00400 and
                     pfam00415"
     misc_feature    1420..1551
                     /gene="ENC1"
                     /note="Region: smart00612, Kelch, Kelch domain"
     misc_feature    1435..1563
                     /gene="ENC1"
                     /note="Region: kelch motif II"
     misc_feature    1528..1695
                     /gene="ENC1"
                     /note="Region: LOAD_kelch, kelch, A beta propeller domain
                     involved in protein-protein interactions and some
                     enzymatic actvities like gycolate oxidase"
     misc_feature    1528..1692
                     /gene="ENC1"
                     /note="Region: pfam01344, Kelch, Kelch motif. The kelch
                     motif was initially discovered in Kelch. In this protein
                     there are six copies of the motif. It has been shown that
                     one member is related to Galactose Oxidase for which a
                     structure has been solved. The kelch motif forms a beta
                     sheet. Several of these sheets associate to form a beta
                     propeller structure as found in pfam00064, pfam00400 and
                     pfam00415"
     misc_feature    1564..1731
                     /gene="ENC1"
                     /note="Region: kelch motif III"
     misc_feature    1564..1722
                     /gene="ENC1"
                     /note="Region: smart00612, Kelch, Kelch domain"
     misc_feature    1732..1875
                     /gene="ENC1"
                     /note="Region: kelch motif IV"
     misc_feature    1840..1968
                     /gene="ENC1"
                     /note="Region: pfam01344, Kelch, Kelch motif. The kelch
                     motif was initially discovered in Kelch. In this protein
                     there are six copies of the motif. It has been shown that
                     one member is related to Galactose Oxidase for which a
                     structure has been solved. The kelch motif forms a beta
                     sheet. Several of these sheets associate to form a beta
                     propeller structure as found in pfam00064, pfam00400 and
                     pfam00415"
     misc_feature    1849..1977
                     /gene="ENC1"
                     /note="Region: LOAD_kelch, kelch, A beta propeller domain
                     involved in protein-protein interactions and some
                     enzymatic actvities like gycolate oxidase"
     misc_feature    1876..2013
                     /gene="ENC1"
                     /note="Region: kelch motif V"
     misc_feature    1978..2115
                     /gene="ENC1"
                     /note="Region: pfam01344, Kelch, Kelch motif. The kelch
                     motif was initially discovered in Kelch. In this protein
                     there are six copies of the motif. It has been shown that
                     one member is related to Galactose Oxidase for which a
                     structure has been solved. The kelch motif forms a beta
                     sheet. Several of these sheets associate to form a beta
                     propeller structure as found in pfam00064, pfam00400 and
                     pfam00415"
     misc_feature    1981..2115
                     /gene="ENC1"
                     /note="Region: LOAD_kelch, kelch, A beta propeller domain
                     involved in protein-protein interactions and some
                     enzymatic actvities like gycolate oxidase"
     misc_feature    2014..2154
                     /gene="ENC1"
                     /note="Region: smart00612, Kelch, Kelch domain"
     misc_feature    2014..2151
                     /gene="ENC1"
                     /note="Region: kelch motif VI"
     variation       complement(1464)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:442425"
     variation       complement(1464)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3776472"
     variation       complement(1959)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:300239"
     variation       complement(1959)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3733790"
     variation       complement(2023)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3733789"
     variation       complement(3750)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:300260"
     variation       complement(3960)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:300259"
     variation       complement(3960)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3776469"
BASE COUNT     1248 a   1094 c   1182 g   1303 t
ORIGIN      
        1 gcggtggcgc tgcggagacc cggtccagac gcctggcggc cgccggcaca caaggcgctt
       61 tctagctccc tcccccgagc gcacagcccg cctccttccg cggcgcctgc agtggcaggc
      121 ttgctctgcc ctaccgtgac gcgctccgga gacgctctgc gggtcctgga caccgggtcc
      181 gcggcgtggg gacgacagac ggaggcgaac gccatcggta gccggtccgc gagccatcgt
      241 tcggggcgca gtcctctccc cggctggccc tcctttctcc ggggcattcg ccaccgcttc
      301 cctgggctga gacgaccggt tcgtcgcctc cttgcccgtg accgtcgcta gaactcagtt
      361 gtgcgttgcg gccagtcgcc actgctgagt ggaagcaaaa tgtcagtcag tgtgcatgag
      421 aaccgcaagt ccagggccag cagcggctcc attaacatct atctgtttca caagtcctcc
      481 tacgctgaca gcgtcctcac tcacctgaat cttttacgcc agcagcgtct cttcactgac
      541 gtccttctcc atgccggaaa taggaccttc ccttgccacc gggcagtgct ggctgcatgc
      601 agtcgctact ttgaggccat gttcagtggt ggcctgaaag agagccagga cagtgaggtc
      661 aactttgaca attccatcca cccagaagtc ttggagctgc tgcttgacta tgcgtactcc
      721 tcccgggtca tcatcaatga agaaaatgca gaatcgctcc tggaagctgg tgacatgctg
      781 gagtttcaag acatccggga tgcatgtgca gagttcctgg aaaagaacct gcatcccacc
      841 aactgcctgg gcatgctgct gctgtctgat gcacaccagt gcaccaagct gtacgaacta
      901 tcttggagaa tgtgtctcag caacttccaa accatcagga agaatgaaga tttcctccag
      961 ctgccccagg acatggtagt gcaactcttg tccagtgaag agctggagac agaggatgaa
     1021 aggcttgtgt acgagtctgc aattaactgg atcagctatg acctgaagaa gcgctattgc
     1081 tacctcccag aactgttgca gacagtaagg ctggcacttc tgccagccat ctatctcatg
     1141 gagaatgtgg ccatggagga actcatcacc aagcagagaa agagtaagga aattgtggaa
     1201 gaggccatca ggtgcaaact gaaaatcctg cagaatgacg gtgtggtaac cagcctctgt
     1261 gcccgacctc ggaaaactgg ccatgccctc ttccttctgg gaggacagac tttcatgtgt
     1321 gacaagttgt atctggtaga ccagaaggcc aaagaaatca ttcccaaggc tgacattccc
     1381 agcccaagaa aagagtttag tgcatgtgcg attggctgca aagtgtacat tactgggggg
     1441 cgggggtctg aaaatggggt ctcgaaagat gtctgggttt atgataccct gcacgaggag
     1501 tggtccaagg ctgcccccat gctggtggcc aggtttggcc atggctctgc tgaactgaag
     1561 cactgcctgt atgtggttgg ggggcacacg gccgcaactg gctgcctccc ggcctccccc
     1621 tcagtctctc taaagcaggt agaacattat gaccccacaa tcaacaaatg gaccatggtg
     1681 gccccactcc gagaaggcgt tagcaacgcc gcagtagtga gtgccaaact taagttattt
     1741 gctttcggag gtaccagtgt cagtcatgac aagctcccca aagttcagtg ttacgatcag
     1801 tgtgaaaaca ggtggactgt accggccacc tgtccccagc cctggcgtta cacagcagca
     1861 gctgtgctgg ggaaccagat ttttattatg gggggtgata cagaattctc tgcctgctct
     1921 gcttataaat tcaacagtga gacttaccag tggaccaaag tgggagatgt gacagcaaag
     1981 cgcatgagct gccatgctgt ggcctctgga aacaaactct acgtggttgg aggatacttt
     2041 ggcattcagc gatgcaagac tttggactgc tacgatccaa cattagacgt gtggaacagc
     2101 atcaccactg tcccgtactc gctgattcct actgcatttg tcagcacctg gaaacatctg
     2161 ccttcttaaa tgcagtacat tctaaagaga gtgagcatga gctcactcca tcactcgatg
     2221 agataatatg agatttctac ttcggagagg ccaagtctaa tgaagagaaa aaaaggaaaa
     2281 gaagttgcaa gactcgaata aaatctgctg caccttgtaa atgctctaac tggacatgaa
     2341 ggaaaggggc gagggagggg ggtgggattt ttggtgcaag tagcacatgg tttaaatatg
     2401 aatgaacaaa cctgtgatct agtccttgtc ttgtaattgt ggattaatgt caatgttaat
     2461 cagcccctca aagggagaga aaagctggac cttttccctt gctgtaccat attcagcatt
     2521 tgatttccat gggccccacc atttatgtgt agaatttgaa atggttgtca cctctctctg
     2581 aggacagagc ttgaagcctc cacaccagct gctgctggag attcaaagcc caactgtggg
     2641 tccgagaggg aagctggctg ggctggctga agaatgaaga ccactggact ctccgttaat
     2701 ctctaagggg tctgctcccc aggaacgttt ctgaacaatg gggactttgt tggtagccat
     2761 ttggtagatg ttcttttcta tttataagtg actttaaact ttcccttggc tgttaagaag
     2821 tttgttatag atttagctat ttattgttcg atgcctgcat gctgaaacaa tgcctacagc
     2881 tgtcttcaca tgtatggacg tgtgtgaatg gttgtacgtt ttgcacattt tgtggctgtt
     2941 gagatgtgct ttgctgcaca aacatgaaaa tttttgagtt acaatttgga gcataactgg
     3001 agggtgggct ggggaggggt ggatttttaa aatgtcaaga cagggaagga tgacaaaatg
     3061 gaaatttaaa tgacatccta gaggtagaga aaccgtggag atcgcttttc tcagactcac
     3121 caacttttaa tgggatttca tggggtttgg ttgtgctgat agggtaaggg gaggctgctt
     3181 tctgcccttc tccccactcc catctgattt acttaattca gtctcagctg ctgaaatttg
     3241 gaaaggacca aattgcttta cagttttttt ctttgtgtag tatcttgaaa tcctggaaaa
     3301 ttctatggaa tagttctgta tatagggcac aagtaaaggc attgtccaaa gtttatttat
     3361 ttatttatta ccctaagaat gctttgccat aaccacattt aatgggaaaa acggcatgta
     3421 tcacagatgt aaattaactc accagattta ctgggcctga actcattctc ttcttgctat
     3481 atgatttagc aagttctaga aggtctccaa gacaataatt acattggcac aatgtatact
     3541 tcagtgctca cccgtagcaa atctcttttt aaaaaactct ttggtgcaca agtaacacat
     3601 ttggccacaa aacaccaaag aattgtaggc agtggcccct attgagaagt tttccggtag
     3661 agttggaaat cagttgtgaa tacattcttt gctagttgga gtgcttgttt actaagcatg
     3721 tgccgtcgta ggtattagtg ctagtctcaa ataggtgctt cccctgaggt gcaggggaag
     3781 accaaagttt gcaactcgaa ctgctttcgt ccatgtttct cacattgctg tattttagaa
     3841 aataggggtt aagactgata acaacctttt acattgtgac tgtgtttgca ttgtctaatg
     3901 acagataaat ccttaacatt tctctccacc ttagtacttt agactaattg tgtttgtccg
     3961 tccatgccat gaatgagtgg gctgtagttg ggcctaaata aatgagctgt tggaagaaaa
     4021 gaatcacagt actttccagc agtcagtccc tggttcctag atgtgttcta agcaatgcaa
     4081 atgtctaatt gtcccccagt gggcatagtc agtgtcgttt atattgtagc agttacagct
     4141 ctgtagttta tgatgcaaat ctgccaagag agatgtatgt gtcactgcat ggcttctgaa
     4201 agcaggatga attttctgca gctgtttcaa agttggggtc tgttcttgaa tcctctatta
     4261 attactgtgt gtgagccaga gggagctgtg gtaagggttg ggcccccagc ctgtagggaa
     4321 ctttctggac tcccactctt tgaatcgata taggcatttg gtctcactac ttgaccattc
     4381 tcaccctgtg aaacgtccca cactttgaag caaatacaat tcacagcaca gtacacacaa
     4441 aaaccttggc ataagacaga gaaggttctt cttattttgt gggctggttg ctgtagaaac
     4501 atataacaaa gggcagccct ccacttctgg tataattgtg tagccccttt tctttgggct
     4561 tgacacctgt cttgaataag agtgattaga gctgcataat gtccctctct tggctattga
     4621 ccatgtggtt cacgtacaaa actctgtata agttgaagga aaatgttcat gttcatatgt
     4681 acttgtttgc tatgactaca ttttgaggtt ttgtaaaact gttatttttt tttttttcac
     4741 aatgtgaaac tgaaggtcaa taaattatta gagattttct cttcaaaaaa aaaaaaaaaa
     4801 aaaaaaaaaa aaaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_017779. Homo sapiens hypo...[gi:8923327] Links  


LOCUS       FLJ20354                2396 bp    mRNA    linear   PRI 15-MAY-2002
DEFINITION  Homo sapiens hypothetical protein FLJ20354 (FLJ20354), mRNA.
ACCESSION   NM_017779
VERSION     NM_017779.1  GI:8923327
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Kawakami,T., Noguchi,S., Itoh,T., Shigeta,K., Senba,T.,
            Matsumura,K., Nakajima,Y., Mizuno,T., Morinaga,M., Ota,T.,
            Suzuki,Y., Obayashi,M., Nishi,T., Shibahara,T., Tanaka,T.,
            Nakamura,Y., Isogai,T. and Sugano,S.
  TITLE     NEDO human cDNA sequencing project
  JOURNAL   Unpublished (2000)
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AK000361.1.
FEATURES             Location/Qualifiers
     source          1..2396
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.2"
                     /clone="HEP15013"
                     /cell_line="HepG2"
                     /cell_type="hepatoma"
                     /clone_lib="HEP"
                     /note="cloning vector pME18SFL3"
     gene            1..2396
                     /gene="FLJ20354"
                     /db_xref="LocusID:55635"
     CDS             84..2162
                     /gene="FLJ20354"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="hypothetical protein FLJ20354"
                     /protein_id="NP_060249.1"
                     /db_xref="GI:8923328"
                     /db_xref="LocusID:55635"
                     /translation="MESQGVPPGPYRATKLWNEVTTSFRAGMPLRKHRQHFKKYGNCF
                     TAGEAVDWLYDLLRNNSNFGPEVTRQQTIQLLRKFLKNHVIEDIKGRWGSENVDDNNQ
                     LFRFPATSPLKTLPRRYPELRKNNIENFSKDKDSIFKLRNLSRRTPKRHGLHLSQENG
                     EKIKHEIINEDQENAIDNRELSQEDVEEVWRYVILIYLQTILGVPSLEEVINPKQVIP
                     QYIMYNMANTSKRGVVILQNKSDDLPHWVLSAMKCLANWPRSNDMNDPTYVGFERDVF
                     RTIADYFLDLPEPLLTFEYYELFVNILVVCGYITVSDRSSGIHKIQDDPQSSKFLHLN
                     NLNSFKSTECLLLSLLHREKNKEESDSTERLQISNPGFQERCAKKMQLVNLRNRRVSA
                     NDIMGGSCHNLIGLSNMHDLSSNSKPRCCSLEGIVDVPGNSSKEASSVFHQSFPNIEG
                     QNNKLFLESKPKQEFLLNLHSEENIQKPFSAGFKRTSTLTVQDQEELCNGKCKSKQLC
                     RSQSLLLRSSTRRNSYINTPVAEIIMKPNVGQGSTSVQTAMESELGESSATINKRLCK
                     STIELSENSLLPASSMLTGTQSLLQPHLERVAIDALQLCCLLLPPPNRRKLQLLMRMI
                     SRMSQNVDMPKLHDAMGTRSLMIHTFSRCVLCCAEEVDLDELLAGRLVSFLMDHHQEI
                     LQVPSYLLDC"
     misc_feature    153..404
                     /gene="FLJ20354"
                     /note="DEP; Region: Domain found in Dishevelled, Egl-10,
                     and Pleckstrin"
                     /db_xref="CDD:smart00049"
     misc_feature    153..404
                     /gene="FLJ20354"
                     /note="DEP; Region: Domain found in Dishevelled, Egl-10,
                     and Pleckstrin"
                     /db_xref="CDD:pfam00610"
     variation       complement(1251)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3790480"
     variation       complement(1294)
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3790479"
BASE COUNT      829 a    439 c    470 g    658 t
ORIGIN      
        1 gtgccgagac tcaccactgc cgcggccgct gggcctgagt gtcgccttcg ccgccatgga
       61 cgccaccggg cgctgacaga cctatggaga gtcagggtgt gcctcccggg ccttatcggg
      121 ccaccaagct gtggaatgaa gttaccacat cttttcgagc aggaatgcct ctaagaaaac
      181 acagacaaca ctttaaaaaa tatggcaatt gtttcacagc aggagaagca gtggattggc
      241 tttatgacct attaagaaat aatagcaatt ttggtcctga agttacaagg caacagacta
      301 tccaactgtt gaggaaattt cttaagaatc atgtaattga agatatcaaa gggaggtggg
      361 gatcagaaaa tgttgatgat aacaaccagc tcttcagatt tcctgcaact tcgccactta
      421 aaactctacc acgaaggtat ccagaattga gaaaaaacaa catagagaac ttttccaaag
      481 ataaagatag catttttaaa ttacgaaact tatctcgtag aactcctaaa aggcatggat
      541 tacatttatc tcaggaaaat ggcgagaaaa taaagcatga aataatcaat gaagatcaag
      601 aaaatgcaat tgataataga gaactaagcc aggaagatgt tgaagaagtt tggagatatg
      661 ttattctgat ctacctgcaa accattttag gtgtgccatc cctagaagaa gtcataaatc
      721 caaaacaagt aattccccaa tatataatgt acaacatggc caatacaagt aaacgtggag
      781 tagttatact acaaaacaaa tcagatgacc tccctcactg ggtattatct gccatgaagt
      841 gcctagcaaa ttggccaaga agcaatgata tgaatgatcc aacttatgtt ggatttgaac
      901 gagatgtatt cagaacaatc gcagattatt ttctagatct ccctgaacct ctacttactt
      961 ttgaatatta cgaattattt gtaaacattt tggttgtttg tggctacatc acagtttcag
     1021 atagatccag tgggatacat aaaattcaag atgatccaca gtcttcaaaa ttccttcact
     1081 taaacaattt gaattccttc aaatcaactg agtgccttct tctcagtctg cttcatagag
     1141 aaaaaaacaa agaagaatca gattctactg agagactaca gataagcaat ccaggatttc
     1201 aagaaagatg tgctaagaaa atgcagctag ttaatttaag aaacagaaga gtgagtgcta
     1261 atgacataat gggaggaagt tgtcataatt taatagggtt aagtaatatg catgatctat
     1321 cctctaacag caaaccaagg tgctgttctt tggaaggaat tgtagatgtg ccagggaatt
     1381 caagtaaaga ggcatccagt gtctttcatc aatcttttcc gaacatagaa ggacaaaata
     1441 ataaactgtt tttagagtct aagcccaaac aggaattcct gttgaatctt cattcagagg
     1501 aaaatattca aaagccattc agtgctggtt ttaagagaac ctctactttg actgttcaag
     1561 accaagagga gttgtgtaat gggaaatgca agtcaaaaca gctttgtagg tctcagagtt
     1621 tgcttttaag aagtagtaca agaaggaata gttatatcaa tacaccagtg gctgaaatta
     1681 tcatgaaacc aaatgttgga caaggcagca caagtgtgca aacagctatg gaaagtgaac
     1741 tcggagagtc tagtgccaca atcaataaaa gactctgcaa aagtacaata gaactttcag
     1801 aaaattcttt acttccagct tcttctatgt tgactggcac acaaagcttg ctgcaacctc
     1861 atttagagag ggttgccatc gatgctctac agttatgttg tttgttactt cccccaccaa
     1921 atcgtagaaa gcttcaactt ttaatgcgta tgatttcccg aatgagtcaa aatgttgata
     1981 tgcccaaact tcatgatgca atgggtacga ggtcactgat gatacatacc ttttctcgat
     2041 gtgtgttatg ctgtgctgaa gaagtggatc ttgatgagct tcttgctgga agattagttt
     2101 ctttcttaat ggatcatcat caggaaattc ttcaagtacc ctcttactta ctagactgct
     2161 agtggataat aacatcttga ctacttaaaa aagggacata ttgaaaatcc tggagatgga
     2221 ctatttgctc ctttgcctaa cttactcata ctgtaagcag attagtgctc aggagtttga
     2281 tgagcaaaaa gtttctacct ctcaagctgc aattgctaga actctttaga aaatattatt
     2341 aaaatacagg agtttacctt aaaggaaaaa aaaaaaacaa aaaaaaaaaa aaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  





&&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004533. Homo sapiens myos...[gi:4758747] Links  


LOCUS       MYBPC2                  3575 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.
ACCESSION   NM_004533
VERSION     NM_004533.1  GI:4758747
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3575)
  AUTHORS   Johnston,L.H., Barker,D.G. and Nurse,P.
  TITLE     Cloning and characterization of the Schizosaccharomyces pombe DNA
            ligase gene CDC17
  JOURNAL   Gene 41 (2-3), 321-325 (1986)
  MEDLINE   86221715
   PUBMED   3011605
REFERENCE   2  (bases 1 to 3575)
  AUTHORS   Weber,F.E., Vaughan,K.T., Reinach,F.C. and Fischman,D.A.
  TITLE     Complete sequence of human fast-type and slow-type muscle
            myosin-binding-protein C (MyBP-C). Differential expression,
            conserved domain structure and chromosome assignment
  JOURNAL   Eur. J. Biochem. 216 (2), 661-669 (1993)
  MEDLINE   93387319
   PUBMED   8375400
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from X73113.1.
FEATURES             Location/Qualifiers
     source          1..3575
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
                     /clone="H7, H5 and H75PPCR"
                     /tissue_type="skeletal muscle cell type"
                     /clone_lib="lambda gt10"
                     /dev_stage="fetal"
     gene            1..3575
                     /gene="MYBPC2"
                     /note="MYBPC; MYBPCF"
                     /db_xref="LocusID:4606"
                     /db_xref="MIM:160793"
     CDS             20..3448
                     /gene="MYBPC2"
                     /note="myosin-binding protein C, fast-type; fast-type
                     muscle myosin-binding-protein C"
                     /codon_start=1
                     /product="myosin binding protein C, fast type"
                     /protein_id="NP_004524.1"
                     /db_xref="GI:4758748"
                     /db_xref="LocusID:4606"
                     /db_xref="MIM:160793"
                     /translation="MPEAKPAAKKAPKGKDAPKGAPKEAPPKEAPAEAPKEAPPEDQS
                     PTAEEPTGVFLKKPDSVSVETGKDAVVVAKVNGKELPDKPTIKWFKGKWLELGSKSGA
                     RFSFKESHNSASNVYTVELHIGKVVLGDRGYYRLEVKAKDTCDSCGFNIDVEAPRQDA
                     SGQSLESFKRTSEKKSDTAGELDFSGLLKKREVVEEEKKKKKKDDDDLGIPPEIWELL
                     KGAKKSEYEKIAFQYGITDLRGMLKRLKKAKVEVKKSAAFTKKLDPAYQVDRGNKIKL
                     MVEISDPDLTLKWFKNGQEIKPSSKYVFENVGKKRILTINKCTLADDAAYEVAVKDEK
                     CFTELFVKEPPVLIVTPLEDQQVFVGDRVEMAVEVSEEGAQVMWMKDGVELTREDSFK
                     ARYRFKKDGKRHILIFSDVVQEDRGRYQVITNGGQCEAELIVEEKQLEVLQDIADLTV
                     KASEQAVFKCEVSDEKVTGKWYKNGVEVRPSKRITISHVGRFHKLVIDDVRPEDEGDY
                     TFVPDGYALGSLSAKLNFLEIKVEYVPKQEPPKIHLDCSGKTSENAIVVVAGNKLRLD
                     VSITGEPPPVATWLKGDEVFTTTEGRTRIEKRVDCSSFVIESAQREDEGRYTIKVTNP
                     VGEDVASIFLQVVDVPDPPEAVRITSVGEDWAILVWEPPMYDGGKPVTGYLVERKKKG
                     SQRWMKLNFEVFTETTYESTKMIEGILYEMRVFAVNAIGVSQPSMNTKPFMPIAPTSE
                     PLHLIVEDVTDTTTTLKWRPPNRIGAGGIDGYLVEYCLEGSEEWVPANTEPVERCGFT
                     VKNLPTGARILFRVVGVNIAGRTEPATLAQPVTIREIAEPPKIRLPRHLRQTYIRKVG
                     EQLNLVVPFQGKPRPQVVWTKGGAPLDTSRVHVRTSDFDTVFFVRQAARSDSGEYELS
                     VQIENMKDTATIRIRVVEKAGPPINVMVKEVWGTNALVEWQAPKDDGNSEIMGYFVQK
                     ADKKTMEWFNVYERNRHTSCTVSDLIVGNEYYFRVYTENICGLSDSPGVSKNTARILK
                     TGITFKPFEYKEHDFRMAPKFLTPLIDRVVVAGYSAALNCAVRGHPKPKVVWMKNKME
                     IREDPKFLITNYQGVLTLNIRRPSPFDAGTYTCRAVNELGEALAECKLEVRVPQ"
     misc_feature    191..481
                     /gene="MYBPC2"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    1076..1324
                     /gene="MYBPC2"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    1358..1546
                     /gene="MYBPC2"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    1376..1546
                     /gene="MYBPC2"
                     /note="Region: pfam00047, ig, Immunoglobulin domain.
                     Members of the immunoglobulin superfamily are found in
                     hundreds of proteins of different functions. Examples
                     include antibodies, the giant muscle kinase titin and
                     receptor tyrosine kinases. Immunoglobulin-like domains may
                     be involved in protein-protein and protein-ligand
                     interactions. The Pfam alignments do not include the first
                     and last strand of the immunoglobulin-like domain"
     misc_feature    1682..1927
                     /gene="MYBPC2"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    1697..1897
                     /gene="MYBPC2"
                     /note="Region: smart00408, IGc2, Immunoglobulin C-2 Type"
     misc_feature    1937..2188
                     /gene="MYBPC2"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    1946..2197
                     /gene="MYBPC2"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    2234..2479
                     /gene="MYBPC2"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    2240..2488
                     /gene="MYBPC2"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    2564..2809
                     /gene="MYBPC2"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    2585..2755
                     /gene="MYBPC2"
                     /note="Region: smart00408, IGc2, Immunoglobulin C-2 Type"
     misc_feature    2822..3067
                     /gene="MYBPC2"
                     /note="Region: smart00060, FN3, Fibronectin type 3 domain;
                     One of three types of internal repeat within the plasma
                     protein, fibronectin. The tenth fibronectin type III
                     repeat contains a RGD cell recognition sequence in a
                     flexible loop between 2 strands. Type III modules are
                     present in both extracellular and intracellular proteins"
     misc_feature    2828..3067
                     /gene="MYBPC2"
                     /note="Region: pfam00041, fn3, Fibronectin type III
                     domain"
     misc_feature    3194..3436
                     /gene="MYBPC2"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    3206..3403
                     /gene="MYBPC2"
                     /note="Region: smart00408, IGc2, Immunoglobulin C-2 Type"
     misc_feature    3206..3388
                     /gene="MYBPC2"
                     /note="Region: pfam00047, ig, Immunoglobulin domain.
                     Members of the immunoglobulin superfamily are found in
                     hundreds of proteins of different functions. Examples
                     include antibodies, the giant muscle kinase titin and
                     receptor tyrosine kinases. Immunoglobulin-like domains may
                     be involved in protein-protein and protein-ligand
                     interactions. The Pfam alignments do not include the first
                     and last strand of the immunoglobulin-like domain"
     variation       173
                     /gene="MYBPC2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:25669"
     variation       1892
                     /gene="MYBPC2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:25665"
     variation       2014
                     /gene="MYBPC2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:25666"
     variation       complement(2912)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3745519"
     variation       3229
                     /gene="MYBPC2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3191794"
     variation       3288
                     /gene="MYBPC2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:25667"
     polyA_signal    3544..3550
                     /gene="MYBPC2"
BASE COUNT      886 a    959 c   1094 g    636 t
ORIGIN      
        1 cgggaggagg tcccccgaca tgcctgaggc aaaaccagcg gccaaaaagg cccccaaagg
       61 caaagatgcc cccaaaggag cccccaagga ggctccccct aaggaggctc ctgcagaggc
      121 ccccaaagaa gccccacccg aggaccagtc cccgactgca gaggagccca ccggcgtttt
      181 cctgaagaag ccggactccg tctcagtgga gactgggaag gacgcagtgg tcgtggccaa
      241 ggtgaacggg aaggagctcc cagacaaacc gaccatcaag tggttcaagg ggaagtggct
      301 ggagctgggc agcaagagtg gcgcccgctt ctccttcaag gagtcccaca actccgccag
      361 caatgtgtac accgtggagc tgcacattgg gaaggtggta ctgggggacc gtgggtatta
      421 ccgcctcgag gtcaaagcca aggacacctg tgacagctgt ggcttcaaca tcgatgtgga
      481 ggcaccccgt caggatgcct ctgggcagag tctagaaagc ttcaagcgta cgagtgaaaa
      541 gaagtcggat actgcaggtg agctggattt cagtggcctg ttgaagaaga gggaggtggt
      601 ggaggaggag aagaagaaga aaaagaaaga tgacgatgac ctaggcatcc ccccggagat
      661 ttgggagctc ctgaaagggg caaagaagag cgagtacgag aaaatcgcct tccagtatgg
      721 catcaccgac ctccggggca tgctgaagcg gctgaaaaag gctaaggtcg aggtcaagaa
      781 gagtgcagca ttcacaaaga agctggatcc agcctaccaa gtggacagag gcaacaagat
      841 caagttgatg gtagagatca gcgacccaga cctgaccctc aagtggttca agaacggcca
      901 ggagatcaaa ccaagcagca agtacgtgtt tgagaacgtt ggtaagaagc gaattcttac
      961 catcaacaag tgcacgctgg cggatgacgc tgcctatgaa gtagctgtca aggatgagaa
     1021 gtgtttcacc gagctcttcg tcaaagaacc tccagtccta attgtcacac ctcttgagga
     1081 ccagcaggtg tttgtgggtg accgggtgga aatggcagtg gaggtgtcag aagagggtgc
     1141 ccaggtgatg tggatgaaag atggtgtgga actgactcgg gaggattcct tcaaggcccg
     1201 gtaccgcttc aagaaggacg ggaagcgcca catcctcatc ttctcagacg tggtccagga
     1261 ggacaggggt cgctatcagg tcataaccaa tggcggccag tgtgaggccg agctgattgt
     1321 ggaagagaaa cagctggagg tcctgcagga catcgcggat ctgacggtga aggcctcaga
     1381 acaagctgtg ttcaagtgcg aggtgtctga tgagaaagtg acgggcaagt ggtataagaa
     1441 tggggtcgag gtgcggccca gcaagaggat caccatttcc catgtaggca ggttccacaa
     1501 gctggtgatc gatgacgtcc gccccgagga tgagggagac tacacgtttg tgcctgacgg
     1561 ctacgccctt ggttcgctct cggccaagct caacttcctg gaaatcaagg tggagtacgt
     1621 tcccaagcaa gagccaccaa agatccactt ggattgctcg gggaagacct cagagaatgc
     1681 gattgtggtt gtggctggaa acaagctgag gcttgacgtg tccatcacag gggagccccc
     1741 tcccgtcgct acctggctga agggagatga ggtattcacg accaccgagg gcaggacccg
     1801 catcgagaag cgggtggact gcagcagctt tgtgattgag agtgcgcagc gggaagacga
     1861 gggccgctac accatcaagg tcaccaaccc cgtcggcgag gacgtggctt ccatcttcct
     1921 gcaagttgta gatgtcccag accccccgga ggctgtgcgc atcacctcgg ttggagagga
     1981 ttgggccatc cttgtctggg agccaccaat gtacgatggg gggaagccag tcaccgggta
     2041 cctcgtagag cggaagaaga agggctctca gcgctggatg aagctgaact ttgaggtctt
     2101 cacagagacc acctatgagt ccaccaagat gatcgagggc atcctctatg agatgcgtgt
     2161 cttcgccgtc aatgctatag gggtctccca gcccagcatg aacaccaagc cttttatgcc
     2221 tattgcaccc acgagtgaac ccctgcacct gatagtggag gatgtgacag acaccaccac
     2281 cacactcaag tggaggcctc cgaacaggat cggggcaggt ggcatcgatg ggtacctggt
     2341 ggagtactgc ctggaaggct ccgaggaatg ggtccctgcc aacaccgagc ccgtggagcg
     2401 ctgtggcttc accgtcaaga atctcccgac cggagccaga atcctcttcc gagtagttgg
     2461 ggtcaacatc gcggggcgca cggagccggc caccctggcc cagccggtca ccatcaggga
     2521 gattgcggag ccacccaaga tccggcttcc ccgccatctc cgccagacct acatccgcaa
     2581 agtgggcgag cagctcaacc ttgtcgtccc cttccaggga aagccccggc cccaggtggt
     2641 gtggaccaag ggcggggccc cgctggacac ctcccgcgtg cacgtgcgga ccagcgactt
     2701 cgacaccgtg ttcttcgtgc gccaggcggc ccgctccgac tccggggagt acgagctgag
     2761 cgtgcagatc gagaacatga aggacaccgc caccatccgc atccgcgttg tggaaaaggc
     2821 tgggcccccc ataaacgtga tggtgaagga ggtgtggggc acgaacgcgc tggtggagtg
     2881 gcaggccccc aaagatgatg ggaacagtga gatcatgggg tatttcgtcc agaaagcaga
     2941 caaaaaaacc atggagtggt tcaacgtcta tgaacgtaac aggcacacta gctgtactgt
     3001 gtccgacctt atcgtgggca atgaatacta tttccgagtt tacaccgaga acatctgtgg
     3061 gctcagtgac tcacctggtg tctccaagaa cacggcccgc atcctcaaga caggaatcac
     3121 cttcaaaccg ttcgagtata aggagcatga cttccggatg gctcccaagt tcctgacacc
     3181 tctcatagac cgcgtggtcg tggctgggta ctcggcagcc ctcaactgtg ctgtcagagg
     3241 ccacccgaag ccgaaggtgg tctggatgaa gaacaagatg gaaatccgtg aagatcccaa
     3301 gttcctgata accaattacc aaggagtcct gacgctgaac atccgtcgcc cctcgccctt
     3361 cgacgctggg acttacacct gccgggccgt caacgagctg ggcgaggcgc tggctgagtg
     3421 caagctggag gtccgagtgc cgcagtgaga cctgtcccct acctgccaag acaattggtg
     3481 gtggagtcct gaccccaatc cccaacctcc caggactgtg ttctttctgg agttttcgct
     3541 gagaacaaaa cagtgttgtc tggaaaaaaa aaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  


&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003573. Homo sapiens late...[gi:4505036] Links  


LOCUS       LTBP4                   5054 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens latent transforming growth factor beta binding protein
            4 (LTBP4), mRNA.
ACCESSION   NM_003573
VERSION     NM_003573.1  GI:4505036
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5054)
  AUTHORS   Giltay,R., Kostka,G. and Timpl,R.
  TITLE     Sequence and expression of a novel member (LTBP-4) of the family of
            latent transforming growth factor-beta binding proteins
  JOURNAL   FEBS Lett. 411 (2-3), 164-168 (1997)
  MEDLINE   97415399
   PUBMED   9271198
REFERENCE   2  (bases 1 to 5054)
  AUTHORS   Saharinen J, Taipale J, Monni O and Keski-Oja J.
  TITLE     Identification and characterization of a new latent transforming
            growth factor-beta-binding protein, LTBP-4
  JOURNAL   J. Biol. Chem. 273 (29), 18459-18469 (1998)
  MEDLINE   98325059
   PUBMED   9660815
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from Y13622.1.
FEATURES             Location/Qualifiers
     source          1..5054
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.1-q13.2"
     gene            1..5054
                     /gene="LTBP4"
                     /note="LTBP-4"
                     /db_xref="LocusID:8425"
                     /db_xref="MIM:604710"
     CDS             1..4764
                     /gene="LTBP4"
                     /codon_start=1
                     /product="latent transforming growth factor beta binding
                     protein 4"
                     /protein_id="NP_003564.1"
                     /db_xref="GI:4505037"
                     /db_xref="LocusID:8425"
                     /db_xref="MIM:604710"
                     /translation="MGDVKALLFVVAARARRLGGAAASESLAVSEAFCRVRSCQPKKC
                     AGPQRCLNPVPAVPSPSPSVRKRQVSLNWQPLTLQEARALLKRRRPRGPGGRGLLRRR
                     PPQRAPAGKAPVLCPLICHNGGVCVKPDRCFCPPDFAGKFCQLHSSGARPPAPAVPGL
                     TRSVYTMPLANHRDDEHGVASMVSVHVEHPQEASVVVHQVERVSGPWEEADAEAVARA
                     EAAARAEAAAPYTVLAQSAPREDGYSDASGFGYCFRELRGGECASPLPGLRTQEVCCR
                     GAGLAWGVHDCQLCSERLGNSERVSAPDGPCPTGFERVNGSCEDVDECATGGRCQHGE
                     CANTRGGYTCVCPDGFLLDSSRSSCISQHVISEAKGPCFRVLRDGGCSLPILRNITKQ
                     ICCCSRVGKAWGRGCQLCPPFGSEGFREICPAGPGYHYSASDLRYNTRPLGQEPPRVS
                     LSQPRTLPATSRPSAGFLPTHRLEPRPEPRPDPRPGPELPLPSIPAWTGPEIPESGPS
                     SGMCQRNPQVCGPGRCISRPSGYTCACDSGFRLSPQGTRCIDVDECRRVPPPCAPGRC
                     ENSPGSFRCVCGPGFRAGPRAAECLDVDECHRVPPPCDLGRCENTPGSFLCVCPAGYQ
                     AAPHGASCQDVDECTQSPGLCGRGGCKNLPGSFRCVCPAGFRGSACEEDVDECAQEPP
                     PCGPGRCDNTAGSFHCACPAGFRSRGPGAPCQDVDECARSPPPCTYGRCENTEGSFQC
                     VCPMGFQPNTAGSECEDVDECENHLACPGQECVNSPGSFQCRTCPSGHHLHRGRCTDV
                     DECSSGAPPCGPHGHCTNTEGSFRCSCAPGYRAPSGRPGPCADVNECLEGDFCFPHGE
                     CLNTDGSFACTCAPGYRPGPRGASCLDVDECSEEDLCQSGICTNTDGSFECICPPGHR
                     AGPDLASCLDVDECRERGPALCGSQRCENSPGSYRCVRDCDPGYHAGPEGTCDDVDEC
                     QEYGPEICGAQRCENTPGSYRCTPACDPGYQPTPGGGCQDVDECRNRSFCGAHAVCQN
                     LPGSFQCLCDQGYEGARDGRHCVDVNECETLQGVCGAALCENVEGSFLCVCPNSPEEF
                     DPMTGRCVPPRTSVGMSPGSQPQAPVSPVLPARPPPPPLSRRPRKPRKGPVGSGCREC
                     YFDTAAPDACDNILARNVTWQECCCTVGEGWGSGCRIQQCPGTETAEYQSLCPHGRGY
                     LAPSGDLSLRRDVDECQLFRDQVCKSGVCVNTAPGYSCYCSNGYYYHTQRLECIDNDE
                     CADEEPACEGGRCVNTVGSYHCTCEPPLVLDGSQRRCVSNESQSLDDNLGVCWQEVGA
                     DLVCSHPRLDRQATYTECCCLYGEAWGMDCALCPAQDSDDFEALCNVLRPPAYSPPRP
                     GGFGLPYEYGPDLGPPYQGLPYGPELYPPPALPYDPYPPPPGPFARREAPYGAPRFDM
                     PDFEDDGGPYGESEAPAPPGPGTRWPYRSRDTRRSFPEPEEPPEGGSYAGSLAEPYEE
                     LEAEECGILDGCTNDRCVRVPEGFTCRCFDGYRLDMTRMACVDINECDEAEAASPLCV
                     NARCLNTDGSFRCICRPGFAPTHQPHHCAPARPRA"
     misc_feature    1141..1263
                     /gene="LTBP4"
                     /note="TB; Region: TB domain"
                     /db_xref="CDD:pfam00683"
     misc_feature    3967..4092
                     /gene="LTBP4"
                     /note="TB; Region: TB domain"
                     /db_xref="CDD:pfam00683"
     variation       complement(469)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2303729"
     variation       1946
                     /gene="LTBP4"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1051299"
     variation       2040
                     /gene="LTBP4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051300"
     variation       2187
                     /gene="LTBP4"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1051301"
     variation       2248
                     /gene="LTBP4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3191675"
     variation       2268
                     /gene="LTBP4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1131621"
     variation       2280
                     /gene="LTBP4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1131622"
     variation       2313
                     /gene="LTBP4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051302"
     variation       2347
                     /gene="LTBP4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051303"
     variation       2748
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1131623"
     variation       2766
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1131624"
     variation       2820
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1051304"
     variation       complement(2829)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2303726"
     variation       2982
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1051305"
     variation       3311
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3191695"
     variation       3777
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:7367"
     variation       3777
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3191804"
     variation       4526
                     /gene="LTBP4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051440"
     variation       4713
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1051466"
     variation       4761
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1051477"
     variation       4784
                     /gene="LTBP4"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051481"
     variation       5030
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3191934"
     variation       5030
                     /gene="LTBP4"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1131760"
BASE COUNT      824 a   1740 c   1590 g    900 t
ORIGIN      
        1 atgggagacg taaaagcgtt gctgtttgtc gttgctgccc gggccagacg tttaggagga
       61 gccgctgcat ccgagtccct ggctgtctcc gaagccttct gcagggtccg aagctgccag
      121 cccaaaaagt gtgcaggccc ccagcggtgc ctgaacccag tgcctgcagt gcccagtccc
      181 agccccagcg tgaggaagag acaggtgtcc ctcaactggc agccactgac gctccaggag
      241 gccagagctc tactgaagcg gcggcggccc cgggggccag ggggccgggg actactgaga
      301 aggaggcccc cacagcgtgc ccccgctggc aaggccccgg tcctgtgtcc cttgatctgt
      361 cacaatggcg gtgtgtgcgt gaagcctgac cgctgcttct gtcccccgga cttcgctggc
      421 aagttctgcc agttgcactc ctcgggcgcc cggcccccgg ccccggctgt accaggcctc
      481 acccgctccg tgtacactat gccactggcc aaccaccgcg acgacgagca cggcgtggca
      541 tctatggtga gcgtccacgt ggagcacccg caggaggcgt cggtggtggt gcaccaggtg
      601 gagcgtgtgt ctggcccttg ggaggaggcg gacgctgagg cggtggcgcg ggcggaagcg
      661 gcggcgcggg cggaggcggc agcgccctac acggtgttgg cacagagcgc gccgcgggag
      721 gacggctact cagatgcctc gggcttcggt tactgctttc gggagctgcg cggaggcgaa
      781 tgcgcgtccc cgctgcccgg gctccggacg caggaggtct gctgccgagg ggccggcttg
      841 gcctggggcg ttcacgactg tcagctgtgc tccgagcgcc tggggaactc cgaaagagtg
      901 agcgccccag atggaccttg tccaaccggc tttgaaagag ttaatgggtc ctgcgaagat
      961 gtggatgagt gcgcgactgg cgggcgctgc cagcacggcg agtgtgcaaa cacgcgcggc
     1021 gggtacacgt gtgtgtgccc cgacggcttt ctgctcgact cgtcccgcag cagctgcatc
     1081 tcccaacacg tgatctcaga ggccaaaggg ccctgcttcc gcgtgctccg cgacggcggc
     1141 tgttcgctgc ccattctgcg gaacatcact aaacagatct gctgctgcag ccgcgtaggc
     1201 aaggcctggg gccggggctg ccagctctgc ccacccttcg gctcagaggg tttccgggag
     1261 atctgcccgg ctggtcctgg ttaccactac tcggcctccg acctccgcta caacaccaga
     1321 cccctgggcc aggagccacc ccgagtgtca ctcagccagc ctcgtaccct gccagccacc
     1381 tctcggccat ctgcaggctt tctgcccacc catcgcctgg agccccggcc tgaaccccgg
     1441 cccgatcccc ggcccggccc tgagcttccc ttgcccagca tccctgcctg gactggtcct
     1501 gagattcctg aatcaggtcc ctcctccggc atgtgtcagc gcaaccccca ggtctgcggc
     1561 ccaggacgct gcatttcccg gcccagcggc tacacctgcg cttgcgactc tggcttccgg
     1621 ctcagccccc agggcacccg atgcattgat gtggacgaat gtcgccgcgt gcccccgccc
     1681 tgtgctcccg ggcgctgcga gaactcacca ggcagcttcc gctgcgtgtg cggcccgggc
     1741 ttccgagccg gcccacgggc tgcggaatgc ctggatgtgg acgagtgcca ccgcgtgccg
     1801 ccgccgtgtg acctcgggcg ctgcgagaac acgccaggca gcttcctgtg cgtgtgcccc
     1861 gccgggtacc aggctgcacc gcacggagcc agctgccagg atgtggatga atgcacccag
     1921 agcccaggcc tgtgtggccg agggggctgc aagaacctgc ctggctcttt ccgctgtgtt
     1981 tgcccggctg gcttccgggg ctcggcgtgt gaagaggatg tggatgagtg tgcccaggaa
     2041 ccgccgccct gtgggcccgg ccgctgtgac aacacggcag gctcctttca ctgtgcctgc
     2101 cctgctggct tccgctcccg agggcccggg gccccctgcc aagatgtgga tgagtgtgcc
     2161 cgaagccccc caccctgcac ctacgggcgg tgtgagaaca cagaaggcag cttccagtgt
     2221 gtctgcccca tgggcttcca acccaacact gctggctccg agtgcgaaga tgtggatgaa
     2281 tgtgaaaacc acctcgcatg ccctgggcag gaatgtgtga actcgcccgg ctccttccag
     2341 tgcaggacct gtccttctgg ccaccacctg caccgtggca gatgcactga tgtggacgaa
     2401 tgcagttcgg gtgcccctcc ctgtggtccc cacggccact gcactaacac cgaaggctcc
     2461 ttccgctgca gctgcgcgcc aggctaccgg gcgccgtcgg gtcggcccgg gccctgcgca
     2521 gacgtgaacg agtgcctgga gggcgatttc tgcttccctc acggcgagtg cctcaacact
     2581 gacggctcct ttgcctgtac ttgtgcccct ggctaccgac ccggaccccg cggagcctct
     2641 tgcctcgacg ttgacgagtg cagcgaggag gacctttgcc agagcggcat ctgtaccaac
     2701 accgacggct ccttcgagtg catctgtcct ccgggacacc gcgctggtcc ggacctcgcc
     2761 tcctgtctcg acgtggacga atgtcgcgag cgaggtccag ccctgtgcgg gtcgcagcgt
     2821 tgtgagaact ctcccggctc ctaccgctgt gtccgggact gcgatcctgg gtaccacgcg
     2881 ggccccgagg gcacctgtga cgatgtggat gagtgccaag aatatggtcc cgagatttgt
     2941 ggagcccagc gttgtgagaa cacccctggc tcctaccgct gtacaccagc ctgtgaccct
     3001 ggctatcagc ccacgccagg gggcggatgc caggatgtgg acgaatgccg gaaccggtcc
     3061 ttctgcggtg cccacgccgt gtgccagaac ctgcccggct ccttccagtg cctctgtgac
     3121 cagggttacg agggggcacg ggatgggcgt cactgcgtgg atgtgaacga gtgtgaaaca
     3181 ctacagggtg tatgtggagc tgccctgtgt gaaaatgtcg aaggctcctt cctctgtgtc
     3241 tgccccaaca gcccggaaga gtttgacccc atgactggac gctgtgttcc cccacgaact
     3301 tctgttggca tgtccccagg ctcgcagccc caggcacctg ttagccccgt tctgcccgcc
     3361 aggccacctc cgccacccct gtcccgccga cccagaaaac ctaggaaggg ccctgtgggg
     3421 agtgggtgcc gggagtgcta ttttgacaca gcggccccgg atgcatgtga caacatcctg
     3481 gctcggaatg tgacatggca ggagtgctgc tgtactgtgg gtgagggctg gggcagcggc
     3541 tgccgcatcc agcagtgccc gggcaccgag acagctgagt accagtcatt gtgccctcac
     3601 ggccggggct acctggcgcc cagtggagac ctgagcctcc ggagagacgt ggacgaatgt
     3661 cagctcttcc gagaccaggt gtgcaagagt ggcgtgtgtg tgaacacggc cccgggctac
     3721 tcatgctatt gcagcaacgg ctactactac cacacacagc ggctggagtg catcgataat
     3781 gacgagtgcg ccgatgagga accggcctgt gagggcggcc gctgtgtcaa cactgtgggc
     3841 tcttatcact gtacctgcga gcccccactg gtgctggatg gctcgcagcg ccgctgcgtc
     3901 tccaacgaga gccagagcct cgatgacaat ctgggagtgt gctggcagga agtgggggct
     3961 gacctcgtgt gcagccaccc tcggctggac cgtcaggcca cctacacaga gtgctgctgc
     4021 ctgtatggag aggcctgggg catggactgc gccctctgcc ctgcgcagga ctcagatgac
     4081 ttcgaggccc tgtgcaatgt gctacgcccc cccgcatata gccccccgcg accaggtggc
     4141 tttggactcc cctacgagta cggcccagac ttaggtccac cttaccaggg cctcccatat
     4201 gggcctgagt tgtacccacc acctgcgcta ccctacgacc cctacccacc gccacctggg
     4261 cccttcgccc gccgggaggc tccttatggg gcaccccgct tcgacatgcc agactttgag
     4321 gacgatggtg gcccctatgg cgaatctgag gctcctgcgc cacctggccc gggcacccgc
     4381 tggccctatc ggtcccggga cacccgccgc tccttcccag agcccgagga gcctcctgaa
     4441 ggtggaagct atgctggttc cctggctgag ccctacgagg agctggaggc ggaggagtgc
     4501 gggatcctgg acggctgcac caacgaccgc tgcgtgcgcg tccccgaagg cttcacctgc
     4561 cgttgcttcg acggctaccg cctggacatg acccgcatgg cctgcgttga catcaacgag
     4621 tgtgatgagg ccgaggctgc ctccccgctg tgcgtcaacg cgcgttgcct caacacggat
     4681 ggctccttcc gctgcatctg ccgcccggga ttcgcaccca cgcaccagcc gcaccactgt
     4741 gcgcccgcac ggccccgggc ctgagccctg gcacccgctg gccacccacc cgcgcccgcc
     4801 actcggggcc cctgccgcgc atcctgcagc ccgcttatgc gtatgtgcac ggggccgccc
     4861 gcctggacct ggagaaggga cctacggacg cctggaagct gcgacgccct gcactgctcc
     4921 cgcctccacc agcgcctccc actgatgtcg tggtcccggg cctggcccag gggccccttt
     4981 acatgccctc tcccttttat aaaattttcc attaaaaacc acctattttc taaaaaaaaa
     5041 aaaaaaaaaa aaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001135. Homo sapiens aggr...[gi:4501990] Links  


LOCUS       AGC1                    7137 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens aggrecan 1 (chondroitin sulfate proteoglycan 1, large
            aggregating proteoglycan, antigen identified by monoclonal antibody
            A0122) (AGC1), transcript variant 1, mRNA.
ACCESSION   NM_001135
VERSION     NM_001135.1  GI:4501990
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7137)
  AUTHORS   Baldwin,C.T., Reginato,A.M. and Prockop,D.J.
  TITLE     A new epidermal growth factor-like domain in the human core protein
            for the large cartilage-specific proteoglycan. Evidence for
            alternative splicing of the domain
  JOURNAL   J. Biol. Chem. 264 (27), 15747-15750 (1989)
  MEDLINE   89380154
   PUBMED   2789216
REFERENCE   2  (bases 1 to 7137)
  AUTHORS   Doege,K.J., Sasaki,M., Kimura,T. and Yamada,Y.
  TITLE     Complete coding sequence and deduced primary structure of the human
            cartilage large aggregating proteoglycan, aggrecan. Human-specific
            repeats, and additional alternatively spliced forms
  JOURNAL   J. Biol. Chem. 266 (2), 894-902 (1991)
  MEDLINE   91093289
   PUBMED   1985970
REFERENCE   3  (bases 1 to 7137)
  AUTHORS   Korenberg,J.R., Chen,X.N., Doege,K., Grover,J. and Roughley,P.J.
  TITLE     Assignment of the human aggrecan gene (AGC1) to 15q26 using
            fluorescence in situ hybridization analysis
  JOURNAL   Genomics 16 (2), 546-548 (1993)
  MEDLINE   93300539
   PUBMED   8314595
REFERENCE   4  (bases 1 to 7137)
  AUTHORS   Barry,F.P., Neame,P.J., Sasse,J. and Pearson,D.
  TITLE     Length variation in the keratan sulfate domain of mammalian
            aggrecan
  JOURNAL   Matrix Biol. 14 (4), 323-328 (1994)
  MEDLINE   95128522
   PUBMED   7827755
REFERENCE   5  (bases 1 to 7137)
  AUTHORS   Valhmu,W.B., Palmer,G.D., Rivers,P.A., Ebara,S., Cheng,J.F.,
            Fischer,S. and Ratcliffe,A.
  TITLE     Structure of the human aggrecan gene: exon-intron organization and
            association with the protein domains
  JOURNAL   Biochem. J. 309 (Pt 2), 535-542 (1995)
  MEDLINE   95351984
   PUBMED   7626017
REFERENCE   6  (bases 1 to 7137)
  AUTHORS   Dudhia,J., Davidson,C.M., Wells,T.M., Vynios,D.H., Hardingham,T.E.
            and Bayliss,M.T.
  TITLE     Age-related changes in the content of the C-terminal region of
            aggrecan in human articular cartilage
  JOURNAL   Biochem. J. 313 (Pt 3), 933-940 (1996)
  MEDLINE   96190740
   PUBMED   8611178
REFERENCE   7  (bases 1 to 7137)
  AUTHORS   Fulop,C., Cs-Szabo,G. and Glant,T.T.
  TITLE     Species-specific alternative splicing of the epidermal growth
            factor-like domain 1 of cartilage aggrecan
  JOURNAL   Biochem. J. 319 (Pt 3), 935-940 (1996)
  MEDLINE   97079270
   PUBMED   8921002
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M55172.1.
            Summary: Aggrecan 1 is a member of the aggrecan/versican
            proteoglycan family.  As an integral part of the extracellular
            matrix in cartilagenous tissue, the function of aggrecan 1 is to
            withstand compression in cartilage.  Mutations in this gene may be
            involved in skeletal dysplasia and spinal degeneration.
            Alternative splicing of two domains has been observed in the
            aggrecan 1 gene; however, it is unknown whether other transcripts
            exist or what effects they have on gene function.
            Transcript Variant: Transcript variant 1, the shortest and most
            predominant transcript, lacks the EGF-like and CRP-like domains
            found in the transcript variant 2.
FEATURES             Location/Qualifiers
     source          1..7137
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     gene            1..7137
                     /gene="AGC1"
                     /note="CSPG1; MSK16; CSPGCP"
                     /db_xref="LocusID:176"
                     /db_xref="MIM:155760"
     CDS             61..7011
                     /gene="AGC1"
                     /note="Aggrecan-1 (chondroitin sulfate proteoglycan-1,
                     large aggregating proteoglycan, antigen identifies by
                     monoclonal antibody A0122); chondroitin sulfate
                     proteoglycan 1, large aggregating proteoglycan"
                     /codon_start=1
                     /product="aggrecan 1 isoform 1 precursor"
                     /protein_id="NP_001126.1"
                     /db_xref="GI:4501991"
                     /db_xref="LocusID:176"
                     /db_xref="MIM:155760"
                     /translation="MTTLLWVFVTLRVITAAVTVETSDHDNSLSVSIPQPSPLRVLLG
                     TSLTIPCYFIDPMHPVTTAPSTAPLAPRIKWSRVSKEKEVVLLVATEGRVRVNSAYQD
                     KVSLPNYPAIPSDATLEVQSLRSNDSGVYRCEVMHGIEDSEATLEVVVKGIVFHYRAI
                     STRYTLDFDRAQRACLQNSAIIATPEQLQAAYEDGFHQCDAGWLADQTVRYPIHTPRE
                     GCYGDKDEFPGVRTYGIRDTNETYDVYCFAEEMEGEVFYATSPEKFTFQEAANECRRL
                     GARLATTGHVYLAWQAGMDMCSAGWLADRSVRYPISKARPNCGGNLLGVRTVYVHANQ
                     TGYPDPSSRYDAICYTGEDFVDIPENFFGVGGEEDITVQTVTWPDMELPLPRNITEGE
                     ARGSVILTVKPIFEVSPSPLEPEEPFTFAPEIGATAFAEVENETGEATRPWGFPTPGL
                     GPATAFTSEDLVVQVTAVPGQPHLPGGVVFHYRPGPTRYSLTFEEAQQACPGTGAVIA
                     SPEQLQAAYEAGYEQCDAGWLRDQTVRYPIVSPRTPCVGDKDSSPGVRTYGVRPSTET
                     YDVYCFVDRLEGEVFFATRLEQFTFQEALEFCESHNATATTGQLYAAWSRGLDKCYAG
                     WLADGSLRYPIVTPRPACGGDKPGVRTVYLYPNQTGLPDPLSRHHAFCFRGISAVPSP
                     GEEEGGTPTSPSGVEEWIVTQVVPGVAAVPVEEETTAVPSGETTAILEFTTEPENQTE
                     WEPAYTPVGTSPLPGILPTWPPTGAETEESTEGPSATEVPSASEEPSPSEVPFPSEEP
                     SPSEEPFPSVRPFPSVELFPSEEPFPSKEPSPSEEPSASEEPYTPSPPEPSWTELPSS
                     GEESGAPDVSGDFTGSGDVSGHLDFSGQLSGDRASGLPSGDLDSSGLTSTVGSGLTVE
                     SGLPSGDEERIEWPSTPTVGELPSGAEILEGSASGVGDLSGLPSGEVLETSASGVGDL
                     SGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDIS
                     GLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETAAPGVEDISG
                     LPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGL
                     PSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLP
                     SGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPS
                     GEVLETAAPGVEDISGLPSGEVLETTAPGVEEISGLPSGEVLETTAPGVDEISGLPSG
                     EVLETTAPGVEEISGLPSGEVLETSTSAVGDLSGLPSGGEVLEISVSGVEDISGLPSG
                     EVVETSASGIEDVSELPSGEGLETSASGVEDLSRLPSGEEVLEISASGFGDLSGVPSG
                     GEGLETSASEVGTDLSGLPSGREGLETSASGAEDLSGLPSGKEDLVGSASGDLDLGKL
                     PSGTLGSGQAPETSGLPSGFSGEYSGVDLGSGPPSGLPDFSGLPSGFPTVSLVDSTLV
                     EVVTASTASELEGRGTIGISGAGEISGLPSSELDISGRASGLPSGTELSGQASGSPDV
                     SGEIPGLFGVSGQPSGFPDTSGETSGVTELSGLSSGQPGVSGEASGVLYGTSQPFGIT
                     DLSGETSGVPDLSGQPSGLPGFSGATSGVPDLVSGTTSGSGESSGITFVDTSLVEVAP
                     TTFKEEEGLGSVELSGLPSGEADLSGKSGMVDVSGQFSGTVDSSGFTSQTPEFSGLPS
                     GIAEVSGESSRAEIGSSLPSGAYYGSGTPSSFPTVSLVDRTLVESVTQAPTAQEAGEG
                     PSGILELSGAHSGAPDMSGEHSGFLDLSGLQSGLIEPSGEPPGTPYFSGDFASTTNVS
                     GESSVAMGTSGEASGLPEVTLITSEFVEGVTEPTISQELGQRPPVTHTPQLFESSGKV
                     STAGDISGATPVLPGSGVEVSSVPESSSETSAYPEAGFGASAAPEASREDSGSPDLSE
                     TTSAFHEANLERSSGLGVSGSTLTFQEGEASAAPEVSGESTTTSDVGTEAPGLPSATP
                     TASGDRTEISGDLSGHTSQLGVVISTSIPESEWTQQTQRPAETHLEIESSSLLYSGEE
                     THTVETATSPTDASIPASPEWKRESESTAADQEVCEEGWNKYQGHCYRHFPDRETWVD
                     AERRCREQQSHLSSIVTPEEQEFVNNNAQDYQWIGLNDRTIEGDFRWSDGHPMQFENW
                     RPNQPDNFFAAGEDCVVMIWHEKGEWNDVPCNYHLPFTCKKGTATTYKRRLQKRSSRH
                     PRRSRPSTAH"
     sig_peptide     61..117
                     /gene="AGC1"
     mat_peptide     118..7008
                     /gene="AGC1"
                     /product="aggrecan 1, isoform 1"
     misc_feature    166..513
                     /gene="AGC1"
                     /note="Region: smart00409, IG, Immunoglobulin"
     misc_feature    196..465
                     /gene="AGC1"
                     /note="Region: smart00406, IGv, Immunoglobulin V-Type"
     misc_feature    517..801
                     /gene="AGC1"
                     /note="Region: pfam00193, Xlink, Extracellular link
                     domain"
     misc_feature    520..804
                     /gene="AGC1"
                     /note="Region: smart00445, LINK, Link
                     (Hyaluronan-binding)"
     misc_feature    820..1110
                     /gene="AGC1"
                     /note="Region: smart00445, LINK, Link
                     (Hyaluronan-binding)"
     misc_feature    820..1107
                     /gene="AGC1"
                     /note="Region: pfam00193, Xlink, Extracellular link
                     domain"
     misc_feature    1492..1776
                     /gene="AGC1"
                     /note="Region: pfam00193, Xlink, Extracellular link
                     domain"
     misc_feature    1492..1776
                     /gene="AGC1"
                     /note="Region: smart00445, LINK, Link
                     (Hyaluronan-binding)"
     misc_feature    1795..2082
                     /gene="AGC1"
                     /note="Region: smart00445, LINK, Link
                     (Hyaluronan-binding)"
     misc_feature    1795..2079
                     /gene="AGC1"
                     /note="Region: pfam00193, Xlink, Extracellular link
                     domain"
     misc_feature    6559..6924
                     /gene="AGC1"
                     /note="Region: smart00034, CLECT, C-type lectin (CTL) or
                     carbohydrate-recognition domain (CRD); Many of these
                     domains function as calcium-dependent carbohydrate binding
                     modules"
     misc_feature    6613..6927
                     /gene="AGC1"
                     /note="Region: pfam00059, lectin_c, Lectin C-type domain.
                     This family includes both long and short form C-type"
     variation       complement(2571)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3743399"
     variation       complement(2648)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3743398"
     variation       2846
                     /gene="AGC1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:938608"
     variation       2872
                     /gene="AGC1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:938609"
     variation       complement(4238)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2882676"
     variation       complement(4238)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3825995"
     variation       complement(5514)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3825994"
     variation       5950
                     /gene="AGC1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1042630"
     variation       complement(5950)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3743397"
     variation       complement(6138)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3743396"
     variation       6138
                     /gene="AGC1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1042631"
     variation       complement(6495)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3825993"
     polyA_signal    7125..7130
                     /gene="AGC1"
     polyA_site      7127
                     /gene="AGC1"
BASE COUNT     1567 a   2010 c   2078 g   1482 t
ORIGIN      
        1 cggccaggtg tgtgggactg aagttcttgg agaagggagt ccaactcttc aaggtgaact
       61 atgaccactt tactctgggt tttcgtgact ctgagggtca tcactgcagc tgtcactgta
      121 gaaacttcag accatgacaa ctcgctgagt gtcagcatcc cccaaccgtc cccgctgagg
      181 gtcctcctgg ggacctccct caccatcccc tgctatttca tcgaccccat gcaccctgtg
      241 accaccgccc cttctaccgc cccactggcc ccaagaatca agtggagccg tgtgtccaag
      301 gagaaggagg tagtgctgct ggtggccact gaagggcgcg tgcgggtcaa cagtgcctat
      361 caggacaagg tctcactgcc caactacccg gccatcccca gtgacgccac cttggaagtc
      421 cagagcctgc gctccaatga ctctggggtc taccgctgcg aggtgatgca tggcatcgag
      481 gacagcgagg ccaccctgga agtcgtggtg aaaggcatcg tgttccatta cagagccatc
      541 tctacacgct acaccctcga ctttgacagg gcgcagcggg cctgcctgca gaacagtgcc
      601 atcattgcca cgcctgagca gctgcaggcc gcctacgaag acggcttcca ccagtgtgac
      661 gccggctggc tggctgacca gactgtcaga taccccatcc acactccccg ggaaggctgc
      721 tatggagaca aggatgagtt tcctggtgtg aggacgtatg gcatccgaga caccaacgag
      781 acctatgatg tgtactgctt cgccgaggag atggagggtg aggtctttta tgcaacatct
      841 ccagagaagt tcaccttcca ggaagcagcc aatgagtgcc ggcggctggg tgcccggctg
      901 gccaccacgg gccacgtcta cctggcctgg caggctggca tggacatgtg cagcgccggc
      961 tggctggccg accgcagcgt gcgctacccc atctccaagg cccggcccaa ctgcggtggc
     1021 aacctcctgg gcgtgaggac cgtctacgtg catgccaacc agacgggcta ccccgacccc
     1081 tcatcccgct acgacgccat ctgctacaca ggtgaagact ttgtggacat cccagaaaac
     1141 ttctttggag tggggggtga ggaggacatc accgtccaga cagtgacctg gcctgacatg
     1201 gagctgccac tgcctcgaaa catcactgag ggtgaagccc gaggcagcgt gatccttacc
     1261 gtaaagccca tcttcgaggt ctcccccagt cccctggaac ccgaggagcc cttcacgttt
     1321 gcccctgaaa taggggccac tgccttcgct gaggttgaga atgagactgg agaggccacc
     1381 aggccctggg gctttcccac acctggcctg ggccctgcca cggcattcac cagtgaggac
     1441 ctcgtcgtgc aggtgaccgc tgtccctggg cagccgcatt tgccaggggg ggtcgtcttc
     1501 cactaccgcc cgggacccac ccgctactcg ctgacctttg aggaggcaca gcaggcctgc
     1561 cctggcacgg gggcggtcat tgcctcgccg gagcagctcc aggccgccta cgaagcaggc
     1621 tatgagcagt gtgacgccgg ctggctgcgg gaccagaccg tcagataccc cattgtgagc
     1681 ccacggaccc catgcgtggg tgacaaggac agcagcccag gggtcaggac ctatggcgtg
     1741 cgcccatcaa cagagaccta cgatgtctac tgctttgtag acagacttga gggggaggtg
     1801 ttcttcgcca cacgccttga gcagttcacc ttccaggaag cactggagtt ctgtgaatct
     1861 cacaatgcca ctgccaccac gggccagctc tacgccgcct ggagccgcgg cctggacaag
     1921 tgctatgccg gctggctggc cgacggcagc ctccgctacc ccatcgtcac cccaaggcct
     1981 gcctgcggtg gggacaagcc aggcgtgaga acggtctacc tctaccctaa ccagacgggc
     2041 ctcccagacc cactgtcccg gcaccatgcc ttctgcttcc gaggcatttc agcggttcct
     2101 tctccaggag aagaagaggg tggcacaccc acatcaccct ctggtgtgga ggagtggatc
     2161 gtgacccaag tggttcctgg tgtggctgct gtccccgtag aagaggagac aactgctgta
     2221 ccctcagggg agactactgc catcctagag ttcaccaccg agccagaaaa ccagacagaa
     2281 tgggaaccag cctatacccc agtgggcaca tccccgctgc cagggatcct tcctacttgg
     2341 cctcctactg gcgccgaaac agaggaaagt acagaaggcc cttctgcaac tgaagtgccc
     2401 tctgcctcag aggaaccatc cccctcagag gtgccattcc cctcagagga gccatccccc
     2461 tcagaggaac cattcccctc agtgaggcca ttcccctcag tggagctgtt cccctcagag
     2521 gagccattcc cctccaagga gccatccccc tcagaggaac catcagcctc agaagagccg
     2581 tatacacctt caccccccga gcccagctgg actgagctgc ccagctctgg ggaggaatct
     2641 ggggcccctg atgtcagtgg tgacttcaca ggcagtggag atgtttcagg acaccttgac
     2701 ttcagtgggc agctgtcagg ggacagggca agtggactgc cctctggaga cctggactcc
     2761 agtggtctta cttccacagt gggctcaggc ctgactgtgg aaagtggact accctcaggg
     2821 gatgaagaga gaattgagtg gcccagcact cctacggttg gtgaactgcc ctctggagct
     2881 gagatcctag agggctctgc ctctggagtt ggggatctca gtggacttcc ttctggagaa
     2941 gttctagaga cctctgcctc tggagtagga gacctcagtg ggcttccttc tggagaagtt
     3001 ctagagacca ctgcccctgg agtagaggac atcagcgggc ttccttctgg agaagttcta
     3061 gagaccactg cccctggagt agaggacatc agcgggcttc cttctggaga agttctagag
     3121 accactgccc ctggagtaga ggacatcagc gggcttcctt ctggagaagt tctagagacc
     3181 actgcccctg gagtagagga catcagcggg cttccttctg gagaagttct agagaccact
     3241 gcccctggag tagaggacat cagcgggctt ccttctggag aagttctaga gaccgctgcc
     3301 cctggagtag aggacatcag cgggcttcct tctggagaag ttctagagac cgctgcccct
     3361 ggagtagagg acatcagcgg gcttccttct ggagaagttc tagagaccgc tgcccctgga
     3421 gtagaggaca tcagcgggct tccttctgga gaagttctag agaccgctgc ccctggagta
     3481 gaggacatca gcgggcttcc ttctggagaa gttctagaga ccgctgcccc tggagtagag
     3541 gacatcagcg ggcttccttc tggagaagtt ctagagaccg ctgcccctgg agtagaggac
     3601 atcagcgggc ttccttctgg agaagttcta gagaccgctg cccctggagt agaggacatc
     3661 agcgggcttc cttctggaga agttctagag actgctgccc ctggagtaga ggacatcagc
     3721 gggcttcctt ctggagaagt tctagagact gctgcccctg gagtagagga catcagcggg
     3781 cttccttctg gagaagttct agagactgct gcccctggag tagaggacat cagcgggctt
     3841 ccttctggag aagttctaga gactgctgcc cctggagtag aggacatcag cgggcttcct
     3901 tctggagaag ttctagagac tactgcccct ggagtagagg agatcagcgg gcttccttct
     3961 ggagaagttc tagagactac tgcccctgga gtagatgaga tcagtgggct tccttctgga
     4021 gaagttctag agactactgc ccctggagta gaggagatca gcgggcttcc ttctggagaa
     4081 gttctagaga cttctacctc tgcggtaggg gacctcagtg gacttccttc tggaggagaa
     4141 gttctagaga tttctgtctc tggagtagag gacatcagtg ggcttccttc tggagaggtt
     4201 gtagagactt ctgcctctgg aatagaggat gtcagtgaac ttccttcagg agaaggtcta
     4261 gagacctctg cttctggagt agaggacctc agcaggctcc cttctggaga agaagttcta
     4321 gagatttctg cctctggatt tggggacctc agtggagttc cttctggagg agaaggtcta
     4381 gagacctctg cttctgaagt agggactgac ctcagtgggc ttccttctgg aagggagggt
     4441 ctagagactt cagcttctgg agctgaggac ctcagtgggt tgccttctgg aaaagaagac
     4501 ttggtggggt cagcttctgg agacttggac ttgggcaaac tgccttctgg aactctagga
     4561 agtgggcaag ctccagaaac aagtggtctt ccctctggat ttagtggtga gtattctggg
     4621 gtggaccttg gaagtggccc accctctggc ctgcctgact ttagtggact tccatctgga
     4681 ttcccaactg tttccctagt ggattctaca ttggtggaag tggtcacagc ctccactgca
     4741 agtgaactgg aagggagggg aaccattggc atcagtggtg caggagaaat atctggactg
     4801 ccctccagtg agctggacat tagtgggaga gctagtggac tcccttcagg aactgaactc
     4861 agtggccaag catctgggtc tcctgatgtc agtggggaaa tacctggact ctttggtgtc
     4921 agtggacagc catcagggtt tcctgacact agtggggaaa catctggagt gactgagctt
     4981 agcgggctgt cctctggaca accaggtgtt agtggagaag catctggagt tctttatggc
     5041 actagtcaac cctttggcat aactgatctg agtggagaaa catctggggt ccctgatctc
     5101 agtgggcagc cttcagggtt accagggttc agtggggcaa catcaggagt ccctgacctg
     5161 gtttctggta ccacgagtgg cagcggtgaa tcttctggga ttacatttgt ggacaccagt
     5221 ttggttgaag tggcccctac tacatttaaa gaagaagaag gcttagggtc tgtggaactc
     5281 agtggcctcc cttccggaga ggcagatctg tcaggcaaat ctgggatggt ggatgtcagt
     5341 ggacagtttt ctggaacagt cgattccagt gggtttacat cccagactcc ggaattcagt
     5401 ggcctaccaa gtggcatagc tgaggtcagt ggagaatcct ccagagctga gattgggagc
     5461 agcctgccct cgggagcata ttatggcagt ggaactccat ctagtttccc cacggtctct
     5521 cttgtagaca gaactttggt ggaatctgta acccaggctc caacagccca agaggcagga
     5581 gaagggcctt ctggcatttt agaactcagt ggtgctcatt ctggagcacc agacatgtct
     5641 ggggagcatt ctggatttct ggacctaagt gggctgcagt ccgggctgat agagcccagc
     5701 ggagagccac caggtactcc atattttagt ggggattttg ccagcaccac caatgtaagt
     5761 ggagaatcct ctgtagccat gggcaccagt ggagaggcct caggacttcc agaagttact
     5821 ttaatcactt ctgagttcgt ggagggtgtt actgaaccaa ctatttctca ggaactaggc
     5881 caaaggcccc ctgtgacaca cacaccccag ctttttgagt ccagtggaaa agtctccaca
     5941 gctggggaca ttagtggagc taccccagtg ctccctgggt ctggagtaga agtatcatca
     6001 gtcccagaat ctagcagtga gacgtccgcc tatcctgaag ctgggttcgg ggcatctgcc
     6061 gcccctgagg ccagcagaga agattctggg tcccctgatc tgagtgaaac cacctctgca
     6121 ttccacgaag ctaaccttga gagatcctct ggcctaggag tgagcggcag cactttgaca
     6181 tttcaagaag gcgaggcgtc cgctgcccca gaagtgagtg gagaatccac caccaccagt
     6241 gatgtgggga cagaggcacc aggcttgcct tcagccactc ccacggcttc tggagacagg
     6301 actgaaatca gcggagacct gtctggtcac acctcgcagc tgggcgttgt catcagcacc
     6361 agcatcccag agtctgagtg gacccagcag acccagcgcc ctgcagagac gcatctagaa
     6421 attgagtcct caagcctcct gtactcagga gaagagactc acacagtcga aacagccacc
     6481 tccccaacag atgcttccat cccagcttct ccggaatgga aacgtgaatc agaatcaact
     6541 gctgcagacc aggaggtatg tgaggagggc tggaacaagt accagggcca ctgttaccgc
     6601 cacttcccgg accgcgagac ctgggtggat gctgagcgcc ggtgtcggga gcagcagtca
     6661 cacctgagca gcatcgtcac ccccgaggag caggagtttg tcaacaacaa tgcccaagac
     6721 taccagtgga tcggcctgaa cgacaggacc atcgaagggg acttccgctg gtcagatgga
     6781 caccccatgc aatttgagaa ctggcgcccc aaccagcctg acaacttttt tgccgctgga
     6841 gaggactgtg tggtgatgat ctggcacgag aagggcgagt ggaatgatgt tccctgcaat
     6901 taccacctcc ccttcacgtg taaaaagggc acagccacca cctacaaacg cagactacag
     6961 aagcggagct cacggcaccc tcggaggagc cgccccagca cagcccactg agaagagctt
     7021 ccaggacgca cccaggacgc tgagcccagg agcctgccag gctgacgtgc atcccaccca
     7081 gacggtgtcc tcttcttgtc gctttttgtc atataaggaa tcccattaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002888. Homo sapiens reti...[gi:4506424] Links  


LOCUS       RARRES1                  846 bp    mRNA    linear   PRI 16-MAY-2002
DEFINITION  Homo sapiens retinoic acid receptor responder (tazarotene induced)
            1 (RARRES1), mRNA.
ACCESSION   NM_002888
VERSION     NM_002888.1  GI:4506424
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 846)
  AUTHORS   Nagpal,S., Patel,S., Asano,A.T., Johnson,A.T., Duvic,M. and
            Chandraratna,R.A.
  TITLE     Tazarotene-induced gene 1 (TIG1), a novel retinoic acid
            receptor-responsive gene in skin
  JOURNAL   J. Invest. Dermatol. 106 (2), 269-274 (1996)
  MEDLINE   96179739
   PUBMED   8601727
REFERENCE   2  (bases 1 to 846)
  AUTHORS   Duvic,M., Nagpal,S., Asano,A.T. and Chandraratna,R.A.
  TITLE     Molecular mechanisms of tazarotene action in psoriasis
  JOURNAL   J. Am. Acad. Dermatol. 37 (2 Pt 3), S18-S24 (1997)
  MEDLINE   97416602
   PUBMED   9270552
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U27185.1.
            Summary: Retinoids exert biologic effects such as potent growth
            inhibitory and cell differentiation activities and are used in the
            treatment of hyperproliferative dermatological diseases. These
            effects are mediated by specific nuclear receptor proteins that are
            members of the steroid and thyroid hormone receptor superfamily of
            transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes
            whose expression is upregulated by the synthetic retinoid
            tazarotene. RARRES1 is thought to act as a putative adhesion
            molecule or cell surface receptor.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..846
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.31"
     gene            1..846
                     /gene="RARRES1"
                     /note="TIG1"
                     /db_xref="LocusID:5918"
                     /db_xref="MIM:605090"
     CDS             37..723
                     /gene="RARRES1"
                     /codon_start=1
                     /product="retinoic acid receptor responder (tazarotene
                     induced) 1"
                     /protein_id="NP_002879.1"
                     /db_xref="GI:4506425"
                     /db_xref="LocusID:5918"
                     /db_xref="MIM:605090"
                     /translation="MQPRRQRLPAPWSGPRGPRPTAPLLALLLLLAPVAAPAGSGGPD
                     DPGQPQDAGVPRRLLQQKARAALHFFNFRSGSPSALRVLAEVQEGRAWINPKEGCKVH
                     VVFSTERYNPESLLQEGEGRLGKCSARVFFKNQKPRPTINVTCTRLIEKKKRQQEDYL
                     LYKQMKQLKNPLEIVSIPDNHGHIDPSLRLIWDLAFLGSSYVMWEMTTQVSHYYLAQL
                     TSVRQWVRKT"
     variation       456
                     /gene="RARRES1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2307064"
     variation       463
                     /gene="RARRES1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1802800"
     variation       517
                     /gene="RARRES1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1063135"
     polyA_signal    826..831
                     /gene="RARRES1"
     polyA_site      846
                     /gene="RARRES1"
BASE COUNT      203 a    234 c    225 g    184 t
ORIGIN      
        1 ccacgtccgg ggtgccgagc caactttcct gcgtccatgc agccccgccg gcaacggctg
       61 cccgctccct ggtccgggcc caggggcccg cgccccaccg ccccgctgct cgcgctgctg
      121 ctgttgctcg ccccggtggc ggcgcccgcg gggtccgggg gccccgacga ccctgggcag
      181 cctcaggatg ctggggtccc gcgcaggctc ctgcagcaga aggcgcgcgc ggcgcttcac
      241 ttcttcaact tccggtccgg ctcgcccagc gcgctgcgag tgctggccga ggtgcaggag
      301 ggccgcgcgt ggattaatcc aaaagaggga tgtaaagttc acgtggtctt cagcacagag
      361 cgctacaacc cagagtcttt acttcaggaa ggtgagggac gtttggggaa atgttctgct
      421 cgagtgtttt tcaagaatca gaaacccaga ccaaccatca atgtaacttg tacacggctc
      481 atcgagaaaa agaaaagaca acaagaggat tacctgcttt acaagcaaat gaagcaactg
      541 aaaaacccct tggaaatagt cagcatacct gataatcatg gacatattga tccctctctg
      601 agactcatct gggatttggc tttccttgga agctcttacg tgatgtggga aatgacaaca
      661 caggtgtcac actactactt ggcacagctc actagtgtga ggcagtgggt aagaaaaacc
      721 tgaaaattaa cttgtgccac aagagttaca atcaaagtgg tctccttaga ctgaattcat
      781 gtgaacttct aatttcatat caagagttgt aatcacattt atttcaataa atatgtgagt
      841 tcctgc
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001825. Homo sapiens crea...[gi:4502854] Links  


LOCUS       CKMT2                   1597 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2),
            nuclear gene encoding mitochondrial protein, mRNA.
ACCESSION   NM_001825
VERSION     NM_001825.1  GI:4502854
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1597)
  AUTHORS   Haas,R.C. and Strauss,A.W.
  TITLE     Separate nuclear genes encode sarcomere-specific and ubiquitous
            human mitochondrial creatine kinase isoenzymes
  JOURNAL   J. Biol. Chem. 265 (12), 6921-6927 (1990)
  MEDLINE   90216724
   PUBMED   2324105
REFERENCE   2  (bases 1 to 1597)
  AUTHORS   Klein,S.C., Haas,R.C., Perryman,M.B., Billadello,J.J. and
            Strauss,A.W.
  TITLE     Regulatory element analysis and structural characterization of the
            human sarcomeric mitochondrial creatine kinase gene
  JOURNAL   J. Biol. Chem. 266 (27), 18058-18065 (1991)
  MEDLINE   92011534
   PUBMED   1917943
REFERENCE   3  (bases 1 to 1597)
  AUTHORS   Richard,I., Devaud,C., Cherif,D., Cohen,D. and Beckmann,J.S.
  TITLE     The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2),
            maps to chromosome 5q13.3
  JOURNAL   Genomics 18 (1), 134-136 (1993)
  MEDLINE   94102741
   PUBMED   8276398
REFERENCE   4  (bases 1 to 1597)
  AUTHORS   Payne,R.M. and Strauss,A.W.
  TITLE     Expression of the mitochondrial creatine kinase genes
  JOURNAL   Mol. Cell. Biochem. 133-134, 235-243 (1994)
  MEDLINE   95107305
   PUBMED   7808456
REFERENCE   5  (bases 1 to 1597)
  AUTHORS   Qin,W., Khuchua,Z., Cheng,J., Boero,J., Payne,R.M. and Strauss,A.W.
  TITLE     Molecular characterization of the creatine kinases and some
            historical perspectives
  JOURNAL   Mol. Cell. Biochem. 184 (1-2), 153-167 (1998)
  MEDLINE   98417401
   PUBMED   9746319
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from J05401.1.
            Summary: Mitochondrial creatine kinase (MtCK) is responsible for
            the transfer of high energy phosphate from mitochondria to the
            cytosolic carrier, creatine. It belongs to the creatine kinase
            isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and
            ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine
            kinase occurs in two different oligomeric forms: dimers and
            octamers, in contrast to the exclusively dimeric cytosolic creatine
            kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80%
            homology with the coding exons of ubiquitous mitochondrial creatine
            kinase. This gene contains sequences homologous to several motifs
            that are shared among some nuclear genes encoding mitochondrial
            proteins and thus may be essential for the coordinated activation
            of these genes during mitochondrial biogenesis.
FEATURES             Location/Qualifiers
     source          1..1597
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.3"
     gene            1..1597
                     /gene="CKMT2"
                     /note="SMTCK"
                     /db_xref="LocusID:1160"
                     /db_xref="MIM:123295"
     CDS             199..1458
                     /gene="CKMT2"
                     /EC_number="2.7.3.2"
                     /note="creatine kinase, mitochondrial 2; basic-type
                     mitochondrial creatine kinase"
                     /codon_start=1
                     /product="sarcomeric mitochondrial creatine kinase
                     precursor"
                     /protein_id="NP_001816.1"
                     /db_xref="GI:4502855"
                     /db_xref="LocusID:1160"
                     /db_xref="MIM:123295"
                     /translation="MASIFSKLLTGRNASLLFATMGTSVLTTGYLLNRQKVCAEVREQ
                     PRLFPPSADYPDLRKHNNCMAECLTPAIYSKLRNKVTPNGYTLDQCIQTGVDNPGHPF
                     IKTVGMVAGDEESYEVFADLFDPVIKLRHNGYDPRVMKHTTDLDASKITQGQFDEHYV
                     LSSRVRTGRSIRGLSLPPACTRAERREVENVAITALEGLKGDLAGRYYKLSEMTEQDQ
                     QRLIDDHFLFDKPVSPLLTCAGMARDWPDARGIWHNYDKTFLIWINEEDHTRVISMEK
                     GGNMKRVFERFCRGLKEVERLIQERGWEFMWNERLGYILTCPSNLGTGLRAGVHVRIP
                     KLSKDPRFSKILENLRLQKRGTGGVDTAAVADVYDISNIDRIGRSEVELVQIVIDGVN
                     YLVDCEKKLERGQDIKVPPPLPQFGKK"
     sig_peptide     199..315
                     /gene="CKMT2"
     mat_peptide     316..1455
                     /gene="CKMT2"
                     /product="sarcomeric mitochondrial creatine kinase"
     misc_feature    355..606
                     /gene="CKMT2"
                     /note="Region: pfam02807, ATP-gua_PtransN, ATP:guanido
                     phosphotransferase, N-terminal domain. The N-terminal
                     domain has an all-alpha fold"
     misc_feature    658..1443
                     /gene="CKMT2"
                     /note="Region: pfam00217, ATP-gua_Ptrans, ATP:guanido
                     phosphotransferase, C-terminal catalytic domain. The
                     substrate binding site is located in the cleft between N
                     and C-terminal domains, but most of the catalytic residues
                     are found in the larger C-terminal domain"
     variation       418
                     /gene="CKMT2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1063543"
     variation       1378
                     /gene="CKMT2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:15497"
     variation       1501
                     /gene="CKMT2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:545"
     polyA_signal    1578..1583
                     /gene="CKMT2"
                     /evidence=experimental
     polyA_site      1597
                     /gene="CKMT2"
                     /evidence=experimental
BASE COUNT      422 a    401 c    413 g    361 t
ORIGIN      
        1 ggctccggct tcaagatcaa aggaaatgtt tccctttgtc ccgtttcaca ctaaacgggt
       61 tggggaggaa ccaggggaga tgtcaaccgt ctgccggtga ctgggaagtt ttctgcaagt
      121 cctccacagc atagccagca ggccactttt cactaacaga agtcacaagc caagtgagac
      181 actcatccaa gaggaaggat ggccagtatc ttttctaagt tgctaactgg ccgcaatgct
      241 tctctgctgt ttgctaccat gggcaccagt gtcctgacca ccgggtacct gctgaaccgg
      301 cagaaagtgt gtgccgaggt ccgggagcag cctaggctat ttcctccaag cgcagactac
      361 ccagacctgc gcaagcacaa caactgcatg gccgagtgcc tcacccccgc catttattcc
      421 aagcttcgca acaaggtgac acccaacggc tacacgctgg accagtgcat ccagactgga
      481 gtggacaacc ctggccaccc cttcataaag actgtgggca tggtggctgg tgacgaggag
      541 tcctatgagg tgtttgctga cctttttgac cccgtcatca aactaagaca caacggctat
      601 gaccccaggg tgatgaagca cacaacggat ctggatgcat caaagatcac ccaagggcag
      661 ttcgacgagc attacgtgct gtcttctcgg gtgcgcactg gccgcagcat ccgtgggctg
      721 agcctgcctc cagcctgcac ccgggccgag cgaagggagg tagagaacgt ggccatcact
      781 gccctggagg gcctcaaggg ggacctggct ggccgctact acaagctgtc cgagatgacg
      841 gagcaggacc agcagcggct catcgatgac cactttctgt ttgataagcc agtgtcccct
      901 ttattaacat gtgctgggat ggcccgtgac tggccagatg ccaggggaat ctggcataat
      961 tatgataaga catttctcat ctggataaat gaggaggatc acaccagggt aatctcaatg
     1021 gaaaaaggag gcaatatgaa acgagtattt gagcgattct gtcgtggact aaaagaagta
     1081 gaacggttaa tccaagaacg aggctgggag ttcatgtgga atgagcgcct aggatacatt
     1141 ttgacctgtc cttcgaacct tggaacagga ctacgagctg gtgtccacgt taggatccca
     1201 aagctcagca aggacccacg cttttctaag atcctggaaa acctaagact ccagaagcgt
     1261 ggcacaggtg gtgtggacac tgccgcggtc gcagatgtgt acgacatttc caacatagat
     1321 agaattggtc gatcagaggt tgagcttgtt cagatagtca tcgatggagt caattacctg
     1381 gtggattgtg aaaagaagtt ggagagaggc caagatatta aggtgccacc ccctctgcct
     1441 cagtttggca aaaagtaaac tttccctttc ccaatttata aataatctgt ctgctggtac
     1501 aacagacata aatctctact ctgagagttt ttatacactt ggaaaaatat aaaattgtag
     1561 atcctgccta tctttacaat aaaactctcc ttaatat
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_032947. Homo sapiens puta...[gi:23618929] Links  


LOCUS       NID67                    183 bp    mRNA    linear   PRI 09-OCT-2002
DEFINITION  Homo sapiens putative small membrane protein NID67 (NID67), mRNA.
ACCESSION   NM_032947
VERSION     NM_032947.1  GI:23618929
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 183)
  AUTHORS   Vician,L., Silver,A.L., Farias-Eisner,R. and Herschman,H.R.
  TITLE     NID67, a putative small membrane protein, is induced by NGF in PC12
            pheochromocytoma cells
  JOURNAL   Neurosci. Res. (2001) In press
REFERENCE   2  (bases 1 to 183)
  AUTHORS   Vician,L., Silver,A.L., Farias-Eisner,R. and Herschman,H.R.
  TITLE     NID67, a small putative membrane protein, is preferentially induced
            by NGF in PC12 pheochromocytoma cells
  JOURNAL   J. Neurosci. Res. 64 (2), 108-120 (2001)
  MEDLINE   21184673
   PUBMED   11288140
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF313413.1.
FEATURES             Location/Qualifiers
     source          1..183
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.1"
                     /tissue_type="colon"
                     /note="NGF induced differentiation"
     gene            1..183
                     /gene="NID67"
                     /db_xref="LocusID:85027"
     CDS             1..183
                     /gene="NID67"
                     /codon_start=1
                     /product="putative small membrane protein NID67"
                     /protein_id="NP_116565.1"
                     /db_xref="GI:23618930"
                     /db_xref="LocusID:85027"
                     /translation="MDAVSQVPMEVVLPKHILDIWVIVLIILATIVIMTSLLLCPATA
                     VIIYRMRTHPILSGAV"
BASE COUNT       36 a     53 c     42 g     52 t
ORIGIN      
        1 atggatgcag tcagccaagt ccccatggaa gtcgtgcttc ccaagcacat cctggatatc
       61 tgggttattg tcctcatcat cctggccacc attgtcatca tgacctcgtt gttgctgtgc
      121 ccagccactg cagtaatcat ctatcgcatg cggactcatc cgatccttag tggggctgtt
      181 tga
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesProteinProteinPubMedPubMedTaxonomyTaxonomyLinkOutLinkOutHelpHelp  




&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_015696. Homo sapiens weak...[gi:15618996] Links  


LOCUS       CL683                   1228 bp    mRNA    linear   PRI 14-SEP-2001
DEFINITION  Homo sapiens weakly similar to glutathione peroxidase 2 (CL683),
            mRNA.
ACCESSION   NM_015696
VERSION     NM_015696.2  GI:15618996
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Isogai,T., Ota,T., Hayashi,K., Sugiyama,T., Otsuki,T., Suzuki,Y.,
            Nishikawa,T., Nagai,K., Sugano,S., Aotsuka,S., Yoshikawa,Y.,
            Matsunawa,H., Ishii,S., Kawai,Y., Saito,K., Yamamoto,J.,
            Wakamatsu,A., Nakamura,Y., Nagahari,K., Masuho,Y. and Sasaki,N.
  TITLE     NEDO human cDNA sequencing project
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AK027683.1.
            On Sep 14, 2001 this sequence version replaced gi:7661551.
FEATURES             Location/Qualifiers
     source          1..1228
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24-q41"
                     /clone="NT2RP4000259"
                     /cell_line="NT2"
                     /cell_type="teratocarcinoma"
                     /clone_lib="NT2RP4"
                     /note="cloning vector: pME18SFL3~mRNA from NT2 neuronal
                     precursor cells after 2-weeks retinoic acid (RA)
                     induction."
     gene            1..1228
                     /gene="CL683"
                     /note="FLJ14777"
                     /db_xref="LocusID:27234"
     CDS             40..603
                     /gene="CL683"
                     /codon_start=1
                     /product="weakly similar to glutathione peroxidase 2"
                     /protein_id="NP_056511.2"
                     /db_xref="GI:15618997"
                     /db_xref="LocusID:27234"
                     /translation="MVAATVAAAWLLLWAAACAQQEQDFYDFKAVNIRGKLVSLEKYR
                     GSVSLVVNVASECGFTDQHYRALQQLQRDLGPHHFNVLAFPCNQFGQQEPDSNKEIES
                     FARRTYSVSFPMFSKIAVTGTGAHPAFKYLAQTSGKEPTWNFWKYLVAPDGKVVGAWD
                     PTVSVEEVRPQITALVRKLILLKREDL"
     misc_feature    112..435
                     /gene="CL683"
                     /note="GSHPx; Region: Glutathione peroxidase"
                     /db_xref="CDD:pfam00255"
     variation       918
                     /gene="CL683"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1047619"
     variation       1038
                     /gene="CL683"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1047635"
BASE COUNT      326 a    330 c    290 g    282 t
ORIGIN      
        1 ctctttgccc tcgcgacgcc gccacctccg gaacaagcca tggtggcggc gacggtggca
       61 gcggcgtggc tgctcctgtg ggctgcggcc tgcgcgcagc aggagcagga cttctacgac
      121 ttcaaggcgg tcaacatccg gggcaaactg gtgtcgctgg agaagtaccg cggatcggtg
      181 tccctggtgg tgaatgtggc cagcgagtgc ggcttcacag accagcacta ccgagccctg
      241 cagcagctgc agcgagacct gggcccccac cactttaacg tgctcgcctt cccctgcaac
      301 cagtttggcc aacaggagcc tgacagcaac aaggagattg agagctttgc ccgccgcacc
      361 tacagtgtct cattccccat gtttagcaag attgcagtca ccggtactgg tgcccatcct
      421 gccttcaagt acctggccca gacttctggg aaggagccca cctggaactt ctggaagtac
      481 ctagtagccc cagatggaaa ggtggtaggg gcttgggacc caactgtgtc agtggaggag
      541 gtcagacccc agatcacagc gctcgtgagg aagctcatcc tactgaagcg agaagactta
      601 taaccaccgc gtctcctcct ccaccacctc atcccgccca cctgtgtggg gctgaccaat
      661 gcaaactcaa atggtgcttc aaagggagag acccactgac tctccttcct ttactcttat
      721 gccattggtc ccatcattct tgtgggggaa aaattctagt attttgatta tttgaatctt
      781 acagcaacaa ataggaactc ctggccaatg agagctcttg accagtgaat caccagccga
      841 tacgaacgtc ttgccaacaa aaatgtgtgg caaatagaag tatatcaagc aataatctcc
      901 cacccaaggc ttctgtaaac tgggaccaat gattacctca tagggctgtt gtgaggatta
      961 ggatgaaata cctgtgaaag tgcctaggca gtgccagcca aataggaggc attcaatgaa
     1021 cattttttgc atataaacca aaaaataact tgttatcaat aaaaacttgc atccaacatg
     1081 aatttccagc cgatgataat ccaggccaaa ggtttagttg ttgttatttc ctctgtatta
     1141 ttttcttcat tacaaaagaa atgcaagttc attgtaacaa tccaaacaat acctcacgat
     1201 ataaaataaa aatgaaagta tcctcctc
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_030782. Homo sapiens cisp...[gi:21359964] Links  


LOCUS       CRR9                    2165 bp    mRNA    linear   PRI 09-JUN-2002
DEFINITION  Homo sapiens cisplatin resistance related protein CRR9p (CRR9),
            mRNA.
ACCESSION   NM_030782
VERSION     NM_030782.2  GI:21359964
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2165)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens cisplatin resistance related protein CRR9p (CRR9),
            mRNA
  JOURNAL   Unpublished (2002)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC025305.1.
            On Jun 9, 2002 this sequence version replaced gi:18158421.
FEATURES             Location/Qualifiers
     source          1..2165
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5pter-p15.3"
                     /clone="MGC:39275 IMAGE:3051368"
                     /tissue_type="Colon, adenocarcinoma"
                     /clone_lib="NIH_MGC_15"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..2165
                     /gene="CRR9"
                     /note="DKFZP761M2324"
                     /db_xref="LocusID:81037"
     CDS             48..1664
                     /gene="CRR9"
                     /codon_start=1
                     /product="cisplatin resistance related protein CRR9p"
                     /protein_id="NP_110409.2"
                     /db_xref="GI:21359965"
                     /db_xref="LocusID:81037"
                     /translation="MWSGRSSFTSLVVGVFVVYVVHTCWVMYGIVYTRPCSGDANCIQ
                     PYLARRPKLQLSVYTTTRSHLGAENNIDLVLNVEDFDVESKFERTVNVSVPKKTRNNG
                     TLYAYIFLHHAGVLPWHDGKQVHLVSPLTTYMVPKPEEINLLTGESDTQQIEAEKKPT
                     SALDEPVSHWRPRLALNVMADNFVFDGSSLPADVHRYMKMIQLGKTVHYLPILFIDQL
                     SNRVKDLMVINRSTTELPLTVSYDKVSLGRLRFWIHMQDAVYSLQQFGFSEKDADEVK
                     GIFVDTNLYFLALTFFVAAFHLLFDFLAFKNDISFWKKKKSMIGMSTKAVLWRCFSTV
                     VIFLFLLDEQTSLLVLVPAGVGAAIELWKVKKALKMTIFWRGLMPEFQFGTYSESERK
                     TEEYDTQAMKYLSYLLYPLCVGGAVYSLLNIKYKSWYSWLINSFVNGVYAFGFLFMLP
                     QLFVNYKLKSVAHLPWKAFTYKAFNTFIDDVFAFIITMPTSHRLACFRDDVVFLVYLY
                     QRWLYPVDKRRVNEFGESYEEKATRAPHTD"
     variation       1842
                     /gene="CRR9"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1044434"
BASE COUNT      464 a    573 c    600 g    528 t
ORIGIN      
        1 ggcggctgag aggcgggcgg gccgggggcg ccgggcgcgg ggccgccatg tggagcggcc
       61 gcagctcctt caccagcttg gtggtgggcg tgttcgtggt ctacgtggtg cacacctgct
      121 gggtcatgta cggcatcgtc tacacccgcc cgtgctccgg cgacgccaac tgcatccagc
      181 cctacctggc gcggcggccc aagctgcagc tgagcgtgta caccacgacg aggtcccacc
      241 tgggtgctga gaacaacatc gacctggtct tgaatgtgga agactttgat gtggagtcca
      301 aatttgaaag gacagttaat gtttctgtac caaagaaaac gagaaacaat gggacgctgt
      361 atgcctacat cttcctccat cacgctgggg tcctgccgtg gcacgacggg aagcaggtgc
      421 acctggtcag tcctctgacc acctacatgg tccccaagcc agaagaaatc aacctgctca
      481 ccggggagtc tgatacacag cagatcgagg cggagaagaa gccgacgagt gccctggatg
      541 agccagtgtc ccactggcga ccgcggctgg cgctgaacgt gatggcggac aactttgtct
      601 ttgacgggtc ctccctgcct gccgatgtgc atcggtacat gaagatgatc cagctgggga
      661 aaaccgtgca ttacctgccc atcctgttca tcgaccagct cagcaaccgc gtgaaggacc
      721 tgatggtcat aaaccgctcc accaccgagc tgcccctcac cgtgtcctac gacaaggtct
      781 cactggggcg gctgcgcttc tggatccaca tgcaggacgc cgtgtactcc ctgcagcagt
      841 tcgggttttc agagaaagat gctgatgagg tgaaaggaat ttttgtagat accaacttat
      901 acttcctggc gctgaccttc tttgtcgcag cgttccatct tctctttgat ttcctggcct
      961 ttaaaaatga catcagtttc tggaagaaga agaagagcat gatcggcatg tccaccaagg
     1021 cagtgctctg gcgctgcttc agcaccgtgg tcatctttct gttcctgctg gacgagcaga
     1081 cgagcctgct ggtgctggtc ccggcgggtg ttggagccgc cattgagctg tggaaagtga
     1141 agaaggcatt gaagatgact attttttgga gaggcctgat gcccgaattt cagtttggca
     1201 cttacagcga atctgagagg aaaaccgagg agtacgatac tcaggccatg aagtacttgt
     1261 catacctgct gtaccctctc tgtgtcgggg gtgctgtcta ttcactcctg aatatcaaat
     1321 ataagagctg gtactcctgg ttaatcaaca gcttcgtcaa cggggtctat gcctttggtt
     1381 tcctcttcat gctgccccag ctctttgtga actacaagtt gaagtcagtg gcacatctgc
     1441 cctggaaggc cttcacctac aaggctttca acaccttcat tgatgacgtc tttgccttca
     1501 tcatcaccat gcccacgtct caccggctgg cctgcttccg ggacgacgtg gtgtttctgg
     1561 tctacctgta ccagcggtgg ctttatcctg tggataaacg cagagtgaac gagtttgggg
     1621 agtcctacga ggagaaggcc acgcgggcgc cccacacgga ctgaaggccg cccgggctgc
     1681 cgccagccaa gtgcaacttg aattgtcaat gagtattttt ggaagcattt ggaggaattc
     1741 ctagacattg cgttttctgt gttgccaaaa tcccttcgga catttctcag acatctccca
     1801 agttcccatc acgtcagatt tggagctggt agcgcttacg atgcccccac gtgtgaacat
     1861 ctgtcttggt cacagagctg ggtgctgccg gtcaccttga gctgtggtgg ctcccggcac
     1921 acgagtgtcc ggggttcggc catgtcctca cgcgggcagg ggtgggagcc ctcacaggca
     1981 agggggctgt tggatttcca tttcaggtgg ttttctaagt gctccttatg tgaatttcaa
     2041 acacgtatgg aattcattcc gcatggactc tgggatcaaa ggctctttcc tcttttgttt
     2101 gagagttggt tgttttaaag cttaatgtat gtttctattt taaaataaaa aaaaaaaaaa
     2161 aaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_015242. Homo sapiens cent...[gi:21264595] Links  


LOCUS       CENTD2                  4785 bp    mRNA    linear   PRI 30-MAY-2002
DEFINITION  Homo sapiens centaurin, delta 2 (CENTD2), transcript variant 2,
            mRNA.
ACCESSION   NM_015242
VERSION     NM_015242.2  GI:21264595
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4785)
  AUTHORS   Miura,K., Jacques,K.M., Stauffer,S., Kubosaki,A., Zhu,K.,
            Hirsch,D.S., Resau,J., Zheng,Y. and Randazzo,P.A.
  TITLE     ARAP1: a point of convergence for Arf and Rho signaling
  JOURNAL   Mol. Cell 9 (1), 109-119 (2002)
  MEDLINE   21664127
   PUBMED   11804590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY049732.1 and BC008315.1.
            On May 30, 2002 this sequence version replaced gi:16975483.
            Summary: The protein encoded by this gene contains ARF-GAP,
            RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology
            domains. In vitro, this protein displays RHO-GAP and
            phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP
            activity. The encoded protein associates with the Golgi, and the
            ARF-GAP activity mediates changes in the Golgi and the formation of
            filopodia. The RHO-GAP activity may mediate cell rounding and loss
            of stress fibers. At least three transcript variants encoding
            different isoforms have been found for this gene, but the
            full-length nature of one variant has not been determined.
            Transcript Variant: This variant (2) has a different 5' coding
            sequence as compared to transcript variant 1. Variant 2 encodes
            isoform b, which has a different N-terminus and is slightly longer
            than isoform a.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4785
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.3"
     gene            1..4785
                     /gene="CENTD2"
                     /note="ARAP1; KIAA0782"
                     /db_xref="LocusID:116985"
                     /db_xref="MIM:606646"
     CDS             558..4190
                     /gene="CENTD2"
                     /note="isoform b is encoded by transcript variant 2;
                     ARF-GAP, RHO-GAP, ankyrin repeat, and pleckstrin homology
                     domains-containing protein 1"
                     /codon_start=1
                     /product="centaurin delta 2, isoform b"
                     /protein_id="NP_056057.1"
                     /db_xref="GI:16975484"
                     /db_xref="LocusID:116985"
                     /db_xref="MIM:606646"
                     /translation="MTLSGSRGQEEPPPSRVPRAVRVASLLSEGEELSGDDQGDEEED
                     DHAYEGVPNGGWHTSSLSLSLPSTIAAPHPMDGPPGGSTPVTPVIKAGWLDKNPPQGS
                     YIYQKRWVRLDTDHLRYFDSNKDAYSKRFISVACISHVAAIGDQKFEVITNNRTFAFR
                     AESDVERKEWMQALQQAMAEQRARARLSSAYLLGVPGSEQPDRAGSLELRGFKNKLYV
                     AVVGDKVQLYKNLEEYHLGIGITFIDMSVGNVKEVDRRSFDLTTPYRIFSFSADSELE
                     KEQWLEAMQGAIAEALSTSEVAERIWAAAPNRFCADCGAPQPDWASINLCVVICKRCA
                     GEHRGLGAGVSKVRSLKMDRKVWTETLIELFLQLGNGAGNRFWAANVPPSEALQPSSS
                     PSTRRCHLEAKYREGKYRRYHPLFGNQEELDKALCAAVTTTDLAETQALLGCGAGINC
                     FSGDPEAPTPLALAEQAGQTLQMEFLRNNRTTEVPRLDSMKPLEKHYSVVLPTVSHSG
                     FLYKTASAGKLLQDRRAREEFSRRWCVLGDGVLSYFENERAVTPNGEIRASEIVCLAV
                     PPPDTHGFEHTFEVYTEGERLYLFGLESAEQAHEWVKCIAKAFVPPLAEDLLARDFER
                     LGRLPYKAGLSLQRAQEGWFSLSGSELRAVFPEGPCEEPLQLRKLQELSIQGDSENQV
                     LVLVERRRTLYIQGERRLDFMGWLGAIQKAAASMGDTLSEQQLGDSDIPVIVYRCVDY
                     ITQCGLTSEGIYRKCGQTSKTQRLLESLRQDARSVHLKEGEQHVDDVSSALKRFLRDL
                     PDGLFTRAQRLTWLEASEIEDEEEKVSRYRELLVRLPPVNRATVKALISHLYCVQCFS
                     DTNQMNVHNLAIVFGPTLFQTDGQDYKAGRVVEDLINHYVVVFSVDEEELRKQREEIT
                     AIVKMRVAGTASGTQHAGDFICTVYLEEKKAETEQHIKVPASMTAEELTLEILDRRNV
                     GIREKDYWTCFEVNEREEAERPLHFAEKVLPILHGLGTDSHLVVKKHQAMEAMLLYLA
                     SRVGDTKHGMMKFREDRSLLGLGLPSGGFHDRYFILNSSCLRLYKEVRSQRPWSGAPE
                     TSHRPEKEWPIKSLKVYLGVKKKLRPPTCWGFTVVHETEKHEKQQWYLCCDTQMELRE
                     WFATFLFVQHDGLVWPSEPSRVSRAVPEVRLGSVSLIPLRGSENEMRRSVAAFTADPL
                     SLLRNV"
     misc_feature    822..1067
                     /gene="CENTD2"
                     /note="PH; Region: PH domain"
                     /db_xref="CDD:pfam00169"
     misc_feature    822..1067
                     /gene="CENTD2"
                     /note="PH; Region: Pleckstrin homology domain."
                     /db_xref="CDD:smart00233"
     misc_feature    1200..1430
                     /gene="CENTD2"
                     /note="PH; Region: Pleckstrin homology domain."
                     /db_xref="CDD:smart00233"
     misc_feature    1443..1784
                     /gene="CENTD2"
                     /note="ArfGap; Region: Putative GTP-ase activating protein
                     for Arf"
                     /db_xref="CDD:pfam01412"
     misc_feature    1470..1784
                     /gene="CENTD2"
                     /note="ArfGap; Region: Putative GTP-ase activating
                     proteins for the small GTPase, ARF"
                     /db_xref="CDD:smart00105"
     misc_feature    2067..2381
                     /gene="CENTD2"
                     /note="PH; Region: PH domain"
                     /db_xref="CDD:pfam00169"
     misc_feature    2067..2381
                     /gene="CENTD2"
                     /note="PH; Region: Pleckstrin homology domain."
                     /db_xref="CDD:smart00233"
     misc_feature    2739..3242
                     /gene="CENTD2"
                     /note="RhoGAP; Region: GTPase-activator protein for
                     Rho-like GTPases"
                     /db_xref="CDD:smart00324"
     misc_feature    2748..3185
                     /gene="CENTD2"
                     /note="RhoGAP; Region: RhoGAP domain"
                     /db_xref="CDD:pfam00620"
     misc_feature    3663..4028
                     /gene="CENTD2"
                     /note="PH; Region: Pleckstrin homology domain."
                     /db_xref="CDD:smart00233"
     misc_feature    3732..4025
                     /gene="CENTD2"
                     /note="PH; Region: PH domain"
                     /db_xref="CDD:pfam00169"
     variation       complement(1697)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2306615"
     variation       complement(4059)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2291288"
     polyA_site      4779
                     /gene="CENTD2"
                     /evidence=experimental
     polyA_site      4785
                     /gene="CENTD2"
                     /evidence=experimental
BASE COUNT      920 a   1365 c   1551 g    949 t
ORIGIN      
        1 tgcctgtcag ggtgttgtgg gggtgcccag ctgcctgtca gaccctgagg actaccagac
       61 agagagtggg cagccatttc ccgggaggct tccccttccc ccacctcact ctcttgccat
      121 acgggggtca ggagtcacgt gtagccacag cgctctgggc caggggtcgg ggctctggtg
      181 tggctccccc aggccctggc tgtatgtggg tgggcatgtg gcctcccccc accctgtgtg
      241 ttaggaactc gtgtcctgtc ccggagtgtc tgtctctgtt tcacttcttg tgttcccgtg
      301 tctgtctgtc ttgcatccct agcccgcagt ctttttctct gtccctttat ctttctgttt
      361 ttgtctgtgt cctaggtcgg tttctgccac tggctctcct gtccctgtga tctgggtctc
      421 tgtgtggtct ccgctggcag ggggagggga gtgtgaggaa acagaactaa aagtgctggg
      481 ctgtgtgggt cggggctgtg tggacagagg gggcgtggca gccccgggtg ggtgtgatct
      541 gtggcttgaa gggaaggatg acgctgagtg ggtctcgggg gcaggaggag cccccaccga
      601 gccgagtccc acgggccgtg cgcgtggcca gtctgctgag cgagggagag gaactgtctg
      661 gggacgacca aggggatgag gaagaggatg accacgccta tgagggcgtc cccaatggcg
      721 gatggcatac cagcagcctg agcttgtcct tgcccagcac aatagctgcg ccacacccca
      781 tggacgggcc gcctgggggc tccacccccg tcacaccagt catcaaggct ggctggctgg
      841 acaagaaccc accgcaggga tcttacatct atcagaaacg atgggtgaga ctggatactg
      901 atcacctgcg atactttgac agtaacaagg acgcttactc taagcgcttt atctctgtgg
      961 cctgcatctc ccacgtggct gccatcgggg accagaagtt tgaagtgatc acaaacaacc
     1021 gaacctttgc cttccgggca gagagtgatg tggagcggaa ggagtggatg caggccctgc
     1081 agcaggccat ggctgagcag cgtgcccggg cccggctctc tagcgcttat ctgctgggag
     1141 ttccaggctc agagcagcct gaccgcgctg gcagcctgga gcttcgtggc ttcaagaata
     1201 agctgtacgt ggccgtggtc ggggacaaag tgcagctcta caagaatcta gaggagtacc
     1261 acctgggcat tggcatcacc ttcatcgaca tgagcgtggg caacgtgaag gaagtggacc
     1321 ggcgcagctt cgacctcacc acgccctacc gcatcttcag cttctctgct gactcagagc
     1381 tagagaagga gcagtggttg gaggccatgc agggagccat cgctgaggcc ctgtctacct
     1441 cggaggtggc cgagcgcatc tgggctgcag cccccaacag gttctgtgct gactgcgggg
     1501 ctcctcagcc tgactgggcc tccatcaacc tctgtgttgt tatctgcaag cgctgtgcag
     1561 gggagcaccg tggcctgggc gctggcgtct ccaaggtgcg gagcctgaag atggacagga
     1621 aggtgtggac agaaacactt atcgagctct tcttacagct ggggaatggc gctgggaacc
     1681 gcttctgggc agccaacgtg ccccccagtg aggccctgca gcccagcagc agccccagca
     1741 cccggcggtg ccacctggag gccaagtacc gtgagggcaa gtaccgccgc taccacccgc
     1801 tctttggcaa ccaggaggag ctggacaagg ccctgtgtgc tgcagtcacc accacagacc
     1861 tggctgagac ccaggcgctc ctgggctgtg gggctgggat caactgcttc tcgggggacc
     1921 ctgaggcccc cacgcccctg gctcttgcag agcaggcggg gcagacgctg cagatggaat
     1981 tccttcggaa caaccggacc acagaggtgc ctcggctgga ctcgatgaag cccctggaaa
     2041 agcactactc agttgtcctg ccgaccgtga gccacagtgg cttcctctac aagactgcct
     2101 ctgccggcaa gctgctacag gaccgccggg cccgggaaga gttcagccgg cgctggtgtg
     2161 tccttggtga cggggtcctg agctactttg agaatgagcg ggcagtgacc cccaatggag
     2221 agattcgggc cagcgagatt gtgtgcctgg cagtgccccc tcctgacacc catggctttg
     2281 agcacacctt tgaggtgtac acggagggag aacggctgta cctgtttggg ctggagagtg
     2341 cggagcaggc tcatgagtgg gtcaagtgta ttgctaaggc attcgtgcct cccctagccg
     2401 aggatctgct ggcccgggat tttgagcggc tgggacgcct accctacaaa gctggcctga
     2461 gcctacagcg ggcccaggag ggctggttct ctctcagtgg ctcggagctc cgtgctgtct
     2521 tcccggaggg gccctgcgaa gagccgctgc aactacggaa actgcaggag ctttccatcc
     2581 agggggacag tgagaaccag gtgctggtgc tggtggagcg aaggaggaca ctgtacatac
     2641 agggcgagcg gcggctggac ttcatgggtt ggctgggggc catccagaaa gcagccgcca
     2701 gcatggggga cacgctgtcg gagcagcagc ttggggactc ggatatcccg gtgatcgtgt
     2761 accgctgtgt ggactacatc acgcagtgcg gcctgacctc cgagggcatc taccgcaagt
     2821 gtgggcagac atcgaagaca cagcggctgc tggagagcct gcggcaggat gcgcgctctg
     2881 tgcacctcaa ggagggcgag cagcacgtgg atgatgtttc ctcggcgctc aagcgcttcc
     2941 tgcgcgacct gcctgatggg ctcttcactc gcgcccagcg cctaacctgg ctggaggcct
     3001 cagagattga ggacgaggag gagaaggtct ccaggtaccg agagctgctg gtgcggctgc
     3061 cccctgtcaa ccgggccaca gtgaaggccc ttatcagcca cctgtactgt gttcagtgct
     3121 tctcagacac gaaccagatg aacgtgcaca acctggcaat tgtgtttggg cccacgctct
     3181 tccagacaga tgggcaggac tacaaggctg gccgtgtggt ggaagacctc attaaccact
     3241 atgtggtggt gtttagtgtg gatgaggaag agctcaggaa gcagcgggag gagatcactg
     3301 ccattgtgaa gatgcgcgtg gctggcactg ccagtgggac ccagcatgcc ggtgacttca
     3361 tctgcacagt gtatctggaa gagaagaagg cagagactga gcagcatatc aaggtcccag
     3421 catccatgac tgctgaggag ctcaccctgg agatcctgga tcgccggaac gtgggcatca
     3481 gggagaagga ctattggacc tgctttgagg tcaacgagag ggaggaggca gagcgccccc
     3541 tgcactttgc ggagaaggtg ctgcccatcc tgcacgggct gggcacggac agccacctgg
     3601 tggtgaagaa gcaccaggcc atggaggcca tgctgctgta cctggccagc cgtgtcggtg
     3661 acaccaagca tggcatgatg aagttccgtg aggaccgcag cctcctgggc ctgggcctgc
     3721 cctcaggtgg cttccacgat cgctacttca tcctcaacag cagctgcttg cggctctaca
     3781 aggaggtccg gagccagagg ccgtggagcg gggcccctga gaccagtcac cggcctgaga
     3841 aggagtggcc tattaagagt ctcaaagtct acctgggagt gaagaagaaa ctcaggccac
     3901 ccacctgctg gggcttcaca gtggtgcatg agacagagaa acatgagaag cagcagtggt
     3961 acctctgctg tgacacacag atggagctcc gggagtggtt cgctaccttt ctgtttgtgc
     4021 agcatgacgg cctggtgtgg ccctcagagc cctcacgcgt gtcccgggca gtgcctgagg
     4081 tccggctggg tagtgtgtca ctgatccccc ttcgaggtag tgaaaatgaa atgcgccgga
     4141 gtgtggctgc cttcaccgcg gaccctctgt ctcttctgcg caacgtctga gcacaggagc
     4201 ccatccttgg ctctaggatt ccgccgctgg aagccttctg ttcagacacc ccttatgctc
     4261 caaggcctga tgtgagccag cggggggtgc atgggaaact gcaccccaca acccacatcc
     4321 tccatcctga ctgcagcatg gggttccccg gcaggggtgg gaggcagcag gggtcagcct
     4381 gggcaggaac ctctcccaac tctgtccagg tgttcagacc tcttggccca acctgctcac
     4441 cccaccgggt tcactgtcct tgtggggctg gagagatggg cataagtcag gaacttggga
     4501 ggaccaccac cctttcagag gcgtgaggcc ctggggccct gccggaaggg agccccctgc
     4561 tcctcccaac aaactccaga acagcagaaa gcgggtgctg tagaggagca ctcagctcac
     4621 ggggagggag ctcttggctg agcttctaca gggctgagag ctgcgctttg gggacttcag
     4681 ccttccttcc agtctgggct gagtgggggg tccagactac ctgatgcccc ttccccaatt
     4741 tggggacttt ttgataatat aaatatatct gtatatttta cccta
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Map ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_013322. Homo sapiens sort...[gi:23111022] Links  


LOCUS       SNX10                   2591 bp    mRNA    linear   PRI 25-SEP-2002
DEFINITION  Homo sapiens sorting nexin 10 (SNX10), mRNA.
ACCESSION   NM_013322
VERSION     NM_013322.2  GI:23111022
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2591)
  AUTHORS   Teasdale,R.D., Loci,D., Houghton,F., Karlsson,L. and Gleeson,P.A.
  TITLE     A large family of endosome-localized proteins related to sorting
            nexin 1
  JOURNAL   Biochem. J. 358 (Pt 1), 7-16 (2001)
  MEDLINE   21378165
   PUBMED   11485546
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC031050.1 and BM147978.1.
            On Sep 18, 2002 this sequence version replaced gi:7019536.
            Summary: This gene encodes a member of the sorting nexin family.
            Members of this family contain a phox (PX) domain, which is a
            phosphoinositide binding domain, and are involved in intracellular
            trafficking. This protein does not contain a coiled coil region,
            like some family members. This gene encodes a protein whose
            function has not been determined.
FEATURES             Location/Qualifiers
     source          1..2591
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
                     /clone="MGC:33054 IMAGE:5278015"
                     /clone_lib="NIH_MGC_96"
     gene            1..2591
                     /gene="SNX10"
                     /note="MGC33054"
                     /db_xref="LocusID:29887"
     CDS             216..821
                     /gene="SNX10"
                     /codon_start=1
                     /product="sorting nexin 10"
                     /protein_id="NP_037454.2"
                     /db_xref="GI:23111023"
                     /db_xref="LocusID:29887"
                     /translation="MFPEQQKEEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFT
                     MKTSCVRRRYREFVWLRQRLQSNALLVQLPELPSKNLFFNMNNRQHVDQRRQGLEDFL
                     RKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKYSVEEAIHKFALMNRRFPEED
                     EEGKKENDIDYDSESSSSGLGHSSDDSSSHGCKVNTAPQES"
     misc_feature    291..539
                     /gene="SNX10"
                     /note="PX; Region: PX domain. PX domains bind to
                     phosphoinositides"
                     /db_xref="CDD:pfam00787"
     misc_feature    294..539
                     /gene="SNX10"
                     /note="PX; Region: PhoX homologous domain, present in
                     p47phox and p40phox"
                     /db_xref="CDD:smart00312"
     polyA_signal    2557..2562
                     /gene="SNX10"
     polyA_site      2577
                     /gene="SNX10"
                     /evidence=experimental
BASE COUNT      842 a    442 c    484 g    823 t
ORIGIN      
        1 gctgagcgcg ggcgcggggc cgctacgtgc gcggggagcg cggggagcgc ggggagcgcg
       61 gggctgcgct cgtgtgcgct cctgggcgct cgccgccgcc gctgccgccg cgcgcctttg
      121 agtcagcaaa ctccgcggcc cgcaagcccg gctcggcccg gccctgctct gttctgcccg
      181 gaggagccgc ccattgatcg tgtcctgtgc tgaagatgtt tccggaacaa cagaaagagg
      241 aatttgtaag tgtctgggtt cgagatccta ggattcagaa ggaggacttc tggcattctt
      301 acattgacta tgagatatgt attcatacta atagcatgtg ttttacaatg aaaacatcct
      361 gtgtacgaag aagatataga gaattcgtgt ggctgaggca gagactccaa agtaatgcgt
      421 tgctggtaca actgccagaa cttccatcta aaaacctgtt tttcaacatg aacaatcgcc
      481 agcacgtgga tcagcgtcgc cagggtctgg aagatttcct cagaaaagtc ctacagaatg
      541 cacttttgct ttcagatagc agccttcacc tcttcttaca gagccatctg aattcagaag
      601 acattgaggc gtgtgtttct gggcagacta agtactctgt ggaagaagca attcacaagt
      661 ttgccttaat gaatagacgt ttccctgaag aagatgaaga aggaaaaaaa gaaaatgata
      721 tagattatga ttcagaaagt tcatcctctg ggcttggaca cagtagtgat gacagcagtt
      781 cacatggatg taaagtaaat acagctccgc aggaatcctg aaaaataatt ctaatgttac
      841 tatcttagga atagcaaatt atgtccagtc atagagaaga aagcttcata ataatacatt
      901 cttacctaaa gctcactgtc atgatgttag gtatttaaat tcttaaagat gttgggttgt
      961 ttattagtgg tatttttatg ttgtcttatt ttaggtaagc ttctgtgtaa agctaaaaat
     1021 cctgtgaata caatactatc ctttacaggc agacattatt ggtaaacaag atcttgccct
     1081 ccaatgaaat gacttacatg ttttaaaaaa ccgagttggt tttattgaat ttaaaaagat
     1141 aggtaactaa gtagcattta aaatcaagat agagcattcc ttcttgtatc agtggggcag
     1201 tgttaccata aacacggtgt atatgttgtt aaaccctatg aagagtaaca gtgtagacca
     1261 gactgcctct ctcagatatg tgcctgatat tttgtggata cctcccctgc actggcaaaa
     1321 cactatgctt ttgggtgtta gactgaaata ttttaagagt atttaacctt tccagtattc
     1381 tgtttcacgc ttagatggaa atgtatctta tgaatagaga catattaaaa taatgtttac
     1441 atcttagaaa aaacatagat agtgctagta atattactta taactgtaat atatagattc
     1501 agaaatacat tttcattatc caaaatcagc ttcaacaaat ggtttctgga gacaaataat
     1561 ttgttttcat tatcattgta taatcaggtt aatgatttat tttttgacta aatgtgcaat
     1621 ttcttatcac tagataactt tcagtatcag tggtggttac ttattactta aatcagagga
     1681 aggattttat aaagattaat aaatttaatt ttaccaataa atattcccat aatttagaaa
     1741 aggatgtcga cttgctaatt tcagaaataa ttattcattt ttaaaaagcc ccttttaaag
     1801 catctacttg aagattggta taattttcat aaaatgtctt tttttttagt gtcccaaaga
     1861 tatcttagat aaactatttt gaagttcaga tttcagatga ggcaacattt tcttgagata
     1921 attacccaag tttcatccat gttgaatggt acaaaatatt tctgtgaaac taacaggaag
     1981 atattttcag ataactagga taacttgttg ctttgttacc cagcctaatt gaagagtggc
     2041 agaggctact acaaaaagca accttttcat tttcactaag agtttaaaag ctattgtatt
     2101 attaaaaagt ctttacaatg cttgtttcaa agaaccaaca gaaaaaaaag ctaagaaaac
     2161 tgagaactaa cattaaaaaa attaaattta gaataagaat gatttcttta atttgtcctt
     2221 tttttctttg gtctaaaaca ttattaaatt tttgtaaata ttttgattta atgtgtctta
     2281 gatcctcatt attttaatac aggaaaagaa aagatttagt aatttcttac catgctaata
     2341 tgtaaagttc atgccatcca ggcatttaag agcgatcctc atcccttcag caatatgtat
     2401 ttgagttcac actatttctg ttttacagca gttttgaaaa acacatacta tgccaccaat
     2461 tgtcatatta tttttagatg atgtaacata gccatcaaaa ttaatattat gtaatgccta
     2521 atacttagta tgtaaatgtc acgagatcat ttttacatta aacgtgaaaa aaaatcaaaa
     2581 aaaaaaaaaa a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinPubMedPubMedTaxonomyTaxonomyUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&7



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_022496. Homo sapiens hypo...[gi:11968056] Links  


LOCUS       FLJ13433                1731 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens hypothetical protein FLJ13433 (FLJ13433), mRNA.
ACCESSION   NM_022496
VERSION     NM_022496.1  GI:11968056
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Isogai,T., Ota,T., Hayashi,K., Sugiyama,T., Otsuki,T., Suzuki,Y.,
            Nishikawa,T., Nagai,K., Sugano,S., Takahashi-Fujii,A., Hara,H.,
            Tanase,T., Nomura,Y., Togiya,S., Komai,F., Hara,R., Takeuchi,K.,
            Arita,M., Nabekura,T., Ishii,S., Kawai,Y., Saito,K., Yamamoto,J.,
            Wakamatsu,A., Nakamura,Y., Nagahari,K., Masuho,Y. and Oshima,A.
  TITLE     NEDO human cDNA sequencing project
  JOURNAL   Unpublished (2000)
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AK023495.1.
FEATURES             Location/Qualifiers
     source          1..1731
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.33"
                     /clone="PLACE1002571"
                     /tissue_type="placenta"
                     /clone_lib="PLACE1"
                     /note="cloning vector: pME18SFL3"
     gene            1..1731
                     /gene="FLJ13433"
                     /db_xref="LocusID:64431"
     CDS             36..1226
                     /gene="FLJ13433"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="hypothetical protein FLJ13433"
                     /protein_id="NP_071941.1"
                     /db_xref="GI:11968057"
                     /db_xref="LocusID:64431"
                     /translation="MTTLVLDNGAYNAKIGYSHENVSVIPNCQFRSKTARLKTFTANQ
                     IDEIKDPSGLFYILPFQKGYLVNWDVQRQVWDYLFGKEMYQVDFLDTNIIITEPYFNF
                     TSIQESMNEILFEEYQFQAVLRVNAGALSAHRYFRDNPSELCCIIVDSGYSFTHIVPY
                     CRSKKKKEAIIRINVGGKLLTNHLKEIISYRQLHVMDETHVINQVKEDVCYVSQDFYR
                     DMDIAKLKGEENTVMIDYVLPDFSTIKKGFCKPREEMVLSGKYKSGEQILRLANERFA
                     VPEILFNPSDIGIQEMGIPEAIVYSIQNLPEEMQPHFFKNIVLTGGNSLFPGFRDRVY
                     SEVRCLTPTDYDVSVVLPENPITYAWEGGKLISENDDFEDMVVTREDYEENGHSVCEE
                     KFDI"
     misc_feature    39..1214
                     /gene="FLJ13433"
                     /note="ACTIN; Region: Actin"
                     /db_xref="CDD:smart00268"
     misc_feature    39..1214
                     /gene="FLJ13433"
                     /note="actin; Region: Actin"
                     /db_xref="CDD:pfam00022"
     variation       complement(71)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2303626"
     variation       288
                     /gene="FLJ13433"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3185935"
     variation       288
                     /gene="FLJ13433"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1128722"
     variation       complement(1595)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3737"
BASE COUNT      565 a    256 c    350 g    560 t
ORIGIN      
        1 aaaacaacta cggctgcggt gtggttggtg gtgagatgac gaccttagtg ctggataatg
       61 gagcttacaa cgccaaaatc ggttacagcc atgaaaatgt gtcggttatt cctaattgtc
      121 agttccggtc aaaaacagca cgtcttaaaa cttttactgc caaccagata gatgaaataa
      181 aagacccttc tggactcttt tacatcctcc cttttcaaaa gggctacttg gtgaattggg
      241 atgttcagag acaagtttgg gattaccttt ttggaaaaga aatgtatcag gttgattttt
      301 tagatactaa tattattatc actgaaccat actttaactt cacttcaatt caagaatcaa
      361 tgaatgaaat tctatttgaa gaataccagt ttcaagcagt attaagagta aatgctgggg
      421 ctctcagtgc acataggtat ttccgagata atccttccga attatgctgt atcattgttg
      481 atagtggata ttcctttaca catatagttc cttattgtag aagtaaaaag aaaaaagaag
      541 caattattcg gataaatgtg ggaggaaaac tcttaaccaa tcatctaaag gagatcatat
      601 cttacaggca gctacatgtt atggatgaaa cacatgtgat taatcaagtg aaagaagatg
      661 tatgctatgt gtctcaggat ttttatagag acatggatat tgcaaagttg aaaggagaag
      721 aaaatacagt aatgatagac tatgtcttgc ctgacttcag tacaattaaa aagggctttt
      781 gtaagccaag ggaagagatg gtgttgagtg gaaaatacaa atctggggaa caaattcttc
      841 gtttggccaa tgagagattt gctgttccgg aaatactctt taatccttct gatataggca
      901 ttcaagaaat gggaattcca gaagctattg tctattcaat tcaaaatcta cctgaagaaa
      961 tgcagccgca tttttttaag aacattgtct tgacaggagg aaattccctt ttcccaggat
     1021 ttagggatcg ggtttactca gaagttcgat gtcttactcc aacagattat gatgtttctg
     1081 ttgtgctgcc tgaaaaccct attacttatg cctgggaagg tggaaaattg atatcagaga
     1141 atgatgattt tgaagatatg gtggtaacaa gagaagatta cgaagaaaat ggacatagcg
     1201 tctgtgaaga gaaatttgat atttaagcaa catttttgaa tgaaagttgt gaccataagg
     1261 tttaatttca aagttccttt taaaagaggt taaggaactg tgttaccttt tgtcctaaga
     1321 aaaaggcttg aatttatgta aatactttga tcgattgcta attttcaaag gcttcttagg
     1381 taggttacta cagtaaactg taactcagtc cacattttca tttaggagct agactaccat
     1441 aacaatgctt atgctgtttc caagggtagg ttatttttca ttaaaagaag aatgaatgca
     1501 ttttaagttt aattcttcat agctgaaagc acaaatttaa cggcttcact ggacagtttt
     1561 ccttagaagg tagttttgtg tgactgtgac taaactattt tattttaaaa tgtcattctt
     1621 atttatacat tctaaagttg gaaagactga tcttatatgt gtataatgtt tattttgtac
     1681 ctagagtaca tttaaaaggg tggagactaa gctaataaag tttttttggc c
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005115. Homo sapiens majo...[gi:19913411] Links  


LOCUS       MVP                     2821 bp    mRNA    linear   PRI 31-JUL-2002
DEFINITION  Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.
ACCESSION   NM_005115
VERSION     NM_005115.3  GI:19913411
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2821)
  AUTHORS   Scheffer,G.L., Wijngaard,P.L., Flens,M.J., Izquierdo,M.A.,
            Slovak,M.L., Pinedo,H.M., Meijer,C.J., Clevers,H.C. and
            Scheper,R.J.
  TITLE     The drug resistance-related protein LRP is the human major vault
            protein
  JOURNAL   Nat. Med. 1 (6), 578-582 (1995)
  MEDLINE   96071506
   PUBMED   7585126
REFERENCE   2  (bases 1 to 2821)
  AUTHORS   Slovak,M.L., Ho,J.P., Cole,S.P., Deeley,R.G., Greenberger,L., de
            Vries,E.G., Broxterman,H.J., Scheffer,G.L. and Scheper,R.J.
  TITLE     The LRP gene encoding a major vault protein associated with drug
            resistance maps proximal to MRP on chromosome 16: evidence that
            chromosome breakage plays a key role in MRP or LRP gene
            amplification
  JOURNAL   Cancer Res. 55 (19), 4214-4219 (1995)
  MEDLINE   95401177
   PUBMED   7671223
REFERENCE   3  (bases 1 to 2821)
  AUTHORS   Izquierdo,M.A., Scheffer,G.L., Flens,M.J., Schroeijers,A.B., van
            der Valk,P. and Scheper,R.J.
  TITLE     Major vault protein LRP-related multidrug resistance
  JOURNAL   Eur. J. Cancer 32A (6), 979-984 (1996)
  MEDLINE   96296550
   PUBMED   8763338
REFERENCE   4  (bases 1 to 2821)
  AUTHORS   Dingemans,A.M., van Ark-Otte,J., van der Valk,P., Apolinario,R.M.,
            Scheper,R.J., Postmus,P.E. and Giaccone,G.
  TITLE     Expression of the human major vault protein LRP in human lung
            cancer samples and normal lung tissues
  JOURNAL   Ann. Oncol. 7 (6), 625-630 (1996)
  MEDLINE   97033720
   PUBMED   8879378
REFERENCE   5  (bases 1 to 2821)
  AUTHORS   Rimsza,L.M., Campbell,K., Dalton,W.S., Salmon,S., Willcox,G. and
            Grogan,T.M.
  TITLE     The major vault protein (MVP), a new multidrug resistance
            associated protein, is frequently expressed in multiple myeloma
  JOURNAL   Leuk. Lymphoma 34 (3-4), 315-324 (1999)
  MEDLINE   99368223
   PUBMED   10439368
REFERENCE   6  (bases 1 to 2821)
  AUTHORS   Lange,C., Walther,W., Schwabe,H. and Stein,U.
  TITLE     Cloning and initial analysis of the human multidrug
            resistance-related MVP/LRP gene promoter
  JOURNAL   Biochem. Biophys. Res. Commun. 278 (1), 125-133 (2000)
  MEDLINE   20525416
   PUBMED   11071864
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X79882.2.
            On Apr 3, 2002 this sequence version replaced gi:9665256.
            Summary: This gene encodes the major vault protein which is a lung
            resistance-related protein. Vaults are multi-subunit structures
            that may be involved in nucleo-cytoplasmic transport. This protein
            mediates drug resistance, perhaps via a transport process. It is
            widely distributed in normal tissues, and overexpressed in
            multidrug-resistant cancer cells. The protein overexpression is a
            potentially useful marker of clinical drug resistance. This gene
            produces two transcripts by using two alternative exon 2 sequences;
            however, the open reading frames are the same in both transcripts.
            Transcript Variant: This variant (2) contains a partial exon 2
            sequence, which is 41 bps shorter than that of the variant 1.
FEATURES             Location/Qualifiers
     source          1..2821
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.1-p11.2"
     gene            1..2821
                     /gene="MVP"
                     /note="LRP; VAULT1"
                     /db_xref="LocusID:9961"
                     /db_xref="MIM:605088"
     CDS             85..2766
                     /gene="MVP"
                     /codon_start=1
                     /product="major vault protein"
                     /protein_id="NP_005106.2"
                     /db_xref="GI:19913412"
                     /db_xref="LocusID:9961"
                     /db_xref="MIM:605088"
                     /translation="MATEEFIIRIPPYHYIHVLDQNSNVSRVEVGPKTYIRQDNERVL
                     FAPMRMVTVPPRHYCTVANPVSRDAQGLVLFDVTGQVRLRHADLEIRLAQDPFPLYPG
                     EVLEKDITPLQVVLPNTALHLKALLDFEDKDGDKVVAGDEWLFEGPGTYIPRKEVEVV
                     EIIQATIIRQNQALRLRARKECWDRDGKERVTGEEWLVTTVGAYLPAVFEEVLDLVDA
                     VILTEKTALHLRARRNFRDFRGVSRRTGEEWLVTVQDTEAHVPDVHEEVLGVVPITTL
                     GPHNYCVILDPVGPDGKNQLGQKRVVKGEKSFFLQPGEQLEQGIQDVYVLSEQQGLLL
                     RALQPLEEGEDEEKVSHQAGDHWLIRGPLEYVPSAKVEVVEERQAIPLDENEGIYVQD
                     VKTGKVRAVIGSTYMLTQDEVLWEKELPPGVEELLNKGQDPLADRGEKDTAKSLQPLA
                     PRNKTRVVSYRVPHNAAVQVYDYREKRARVVFGPELVSLGPEEQFTVLSLSAGRPKRP
                     HARRALCLLLGPDFFTDVITIETADHARLQLQLAYNWHFEVNDRKDPQETAKLFSVPD
                     FVGDACKAIASRVRGAVASVTFDDFHKNSARIIRTAVFGFETSEAKGPDGMALPRPRD
                     QAVFPQNGLVVSSVDVQSVEPVDQRTRDALQRSVQLAIEITTNSQEAAAKHEAQRLEQ
                     EARGRLERQKILDQSEAEKARKELLELEALSMAVESTGTAKAEAESRAEAARIEGEGS
                     VLQAKLKAQALAIETEAELQRVQKVRELELVYARAQLELEVSKAQQLAEVEVKKFKQM
                     TEAIGPSTIRDLAVAGPEMQVKLLQSLGLKSTLITDGSTPINLFNTAFGLLGMGPEGQ
                     PLGRRVASGPSPGEGISPQSAQAPQAPGDNHVVPVLR"
     misc_feature    160..345
                     /gene="MVP"
                     /note="Region: pfam01505, Vault, Major Vault Protein
                     repeat. The vault is a ubiquitous and highly conserved
                     ribonucleoprotein particle of approximately 13 mDa of
                     unknown function. This family corresponds to a repeat
                     found in the amino terminal half of the major vault
                     protein"
     misc_feature    364..507
                     /gene="MVP"
                     /note="Region: pfam01505, Vault, Major Vault Protein
                     repeat. The vault is a ubiquitous and highly conserved
                     ribonucleoprotein particle of approximately 13 mDa of
                     unknown function. This family corresponds to a repeat
                     found in the amino terminal half of the major vault
                     protein"
     misc_feature    508..657
                     /gene="MVP"
                     /note="Region: pfam01505, Vault, Major Vault Protein
                     repeat. The vault is a ubiquitous and highly conserved
                     ribonucleoprotein particle of approximately 13 mDa of
                     unknown function. This family corresponds to a repeat
                     found in the amino terminal half of the major vault
                     protein"
     misc_feature    667..825
                     /gene="MVP"
                     /note="Region: pfam01505, Vault, Major Vault Protein
                     repeat. The vault is a ubiquitous and highly conserved
                     ribonucleoprotein particle of approximately 13 mDa of
                     unknown function. This family corresponds to a repeat
                     found in the amino terminal half of the major vault
                     protein"
     misc_feature    826..999
                     /gene="MVP"
                     /note="Region: pfam01505, Vault, Major Vault Protein
                     repeat. The vault is a ubiquitous and highly conserved
                     ribonucleoprotein particle of approximately 13 mDa of
                     unknown function. This family corresponds to a repeat
                     found in the amino terminal half of the major vault
                     protein"
     misc_feature    1000..1149
                     /gene="MVP"
                     /note="Region: pfam01505, Vault, Major Vault Protein
                     repeat. The vault is a ubiquitous and highly conserved
                     ribonucleoprotein particle of approximately 13 mDa of
                     unknown function. This family corresponds to a repeat
                     found in the amino terminal half of the major vault
                     protein"
     misc_feature    1150..1296
                     /gene="MVP"
                     /note="Region: pfam01505, Vault, Major Vault Protein
                     repeat. The vault is a ubiquitous and highly conserved
                     ribonucleoprotein particle of approximately 13 mDa of
                     unknown function. This family corresponds to a repeat
                     found in the amino terminal half of the major vault
                     protein"
     variation       1206
                     /gene="MVP"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1063541"
     variation       1207
                     /gene="MVP"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1063542"
     variation       complement(1233)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2288043"
     variation       complement(2036)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3764944"
     variation       2206
                     /gene="MVP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1131328"
     variation       2250
                     /gene="MVP"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1050809"
     variation       complement(2381)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3815823"
     variation       2607
                     /gene="MVP"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1050839"
     variation       2663
                     /gene="MVP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1050849"
BASE COUNT      607 a    801 c    915 g    498 t
ORIGIN      
        1 aaaggttccc catctgaggc gtttgttgca gctacctgca cttctagatt catcttcttg
       61 tgagccctgg gcttaggagt caccatggca actgaagagt tcatcatccg catcccccca
      121 taccactata tccatgtgct ggaccagaac agcaacgtgt cccgtgtgga ggtcgggcca
      181 aagacctaca tccggcagga caatgagagg gtactgtttg cccccatgcg catggtgacc
      241 gtccccccac gtcactactg cacagtggcc aaccctgtgt ctcgggatgc ccagggcttg
      301 gtgctgtttg atgtcacagg gcaagttcgg cttcgccacg ctgacctcga gatccggctg
      361 gcccaggacc ccttccccct gtacccaggg gaggtgctgg aaaaggacat cacacccctg
      421 caggtggttc tgcccaacac tgccctccat ctaaaggcgc tgcttgattt tgaggataaa
      481 gatggagaca aggtggtggc aggagatgag tggcttttcg agggacctgg cacgtacatc
      541 ccccggaagg aagtggaggt cgtggagatc attcaggcca ccatcatcag gcagaaccag
      601 gctctgcggc tcagggcccg caaggagtgc tgggaccggg acggcaagga gagggtgaca
      661 ggggaagaat ggctggtcac cacagtaggg gcgtacctcc cagcggtgtt tgaggaggtt
      721 ctggatttgg tggacgccgt catccttacg gaaaagacag ccctgcacct ccgggctcgg
      781 cggaacttcc gggacttcag gggagtgtcc cgccgcactg gggaggagtg gctggtaaca
      841 gtgcaggaca cagaggccca cgtgccagat gtccacgagg aggtgctggg ggttgtgccc
      901 atcaccaccc tgggccccca caactactgc gtgattctcg accctgtcgg accggatggc
      961 aagaatcagc tggggcagaa gcgcgtggtc aagggagaga agtctttttt cctccagcca
     1021 ggagagcagc tggaacaagg catccaggat gtgtatgtgc tgtcggagca gcaggggctg
     1081 ctgctgaggg ccctgcagcc cctggaggag ggggaggatg aggagaaggt ctcacaccag
     1141 gctggggacc actggctcat ccgcggaccc ctggagtatg tgccatctgc caaagtggag
     1201 gtggtggagg agcgccaggc catccctcta gacgagaacg agggcatcta tgtgcaggat
     1261 gtcaagaccg gaaaggtgcg cgctgtgatt ggaagcacct acatgctgac ccaggacgaa
     1321 gtcctgtggg agaaagagct gcctcccggg gtggaggagc tgctgaacaa ggggcaggac
     1381 cctctggcag acaggggtga gaaggacaca gctaagagcc tccagccctt ggcgccccgg
     1441 aacaagaccc gtgtggtcag ctaccgcgtg ccccacaacg ctgcggtgca ggtgtacgac
     1501 taccgagaga agcgagcccg cgtggtcttc gggcctgagc tggtgtcgct gggtcctgag
     1561 gagcagttca cagtgttgtc cctctcagct gggcggccca agcgtcccca tgcccgccgt
     1621 gcgctctgcc tgctgctggg gcctgacttc ttcacagacg tcatcaccat cgaaacggcg
     1681 gatcatgcca ggctgcaact gcagctggcc tacaactggc actttgaggt gaatgaccgg
     1741 aaggaccccc aagagacggc caagctcttt tcagtgccag actttgtagg tgatgcctgc
     1801 aaagccatcg catcccgggt gcggggggcc gtggcctctg tcactttcga tgacttccat
     1861 aagaactcag cccgcatcat tcgcactgct gtctttggct ttgagacctc ggaagcgaag
     1921 ggccccgatg gcatggccct gcccaggccc cgggaccagg ctgtcttccc ccaaaacggg
     1981 ctggtggtca gcagtgtgga cgtgcagtca gtggagcctg tggatcagag gacccgggac
     2041 gccctgcaac gcagcgtcca gctggccatc gagatcacca ccaactccca ggaagcggcg
     2101 gccaagcatg aggctcagag actggagcag gaagcccgcg gccggcttga gcggcagaag
     2161 atcctggacc agtcagaagc cgagaaagct cgcaaggaac ttttggagct ggaggctctg
     2221 agcatggccg tggagagcac cgggactgcc aaggcggagg ccgagtcccg tgcggaggca
     2281 gcccggattg agggagaagg gtccgtgctg caggccaagc taaaagcaca ggccttggcc
     2341 attgaaacgg aggctgagct ccagagggtc cagaaggtcc gagagctgga actggtctat
     2401 gcccgggccc agctggagct ggaggtgagc aaggctcagc agctggctga ggtggaggtg
     2461 aagaagttca agcagatgac agaggccata ggccccagca ccatcaggga ccttgctgtg
     2521 gctgggcctg agatgcaggt aaaactgctc cagtccctgg gcctgaaatc aaccctcatc
     2581 accgatggct ccactcccat caacctcttc aacacagcct ttgggctgct ggggatgggg
     2641 cccgagggtc agcccctggg cagaagggtg gccagtgggc ccagccctgg ggaggggata
     2701 tccccccagt ctgctcaggc ccctcaagct cctggagaca accacgtggt gcctgtactg
     2761 cgctaactcc tgattaatac aatggaagtt tctgggcaaa aaaaaaaaaa aaaagtttcc
     2821 a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_020233. Homo sapiens x 00...[gi:21361842] Links  


LOCUS       MDS006                  1287 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens x 006 protein (MDS006), mRNA.
ACCESSION   NM_020233
VERSION     NM_020233.2  GI:21361842
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1287)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens x 006 protein (MDS006), mRNA
  JOURNAL   Unpublished (2000)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC001294.1.
            On Jun 10, 2002 this sequence version replaced gi:9910423.
FEATURES             Location/Qualifiers
     source          1..1287
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
                     /clone="MGC:5294 IMAGE:3452502"
                     /tissue_type="Placenta, choriocarcinoma"
                     /clone_lib="NIH_MGC_10"
                     /lab_host="DH10B"
                     /note="Vector: pCMV-SPORT6"
     gene            1..1287
                     /gene="MDS006"
                     /db_xref="LocusID:56985"
     CDS             43..660
                     /gene="MDS006"
                     /codon_start=1
                     /product="x 006 protein"
                     /protein_id="NP_064618.2"
                     /db_xref="GI:21361843"
                     /db_xref="LocusID:56985"
                     /translation="MDDKPNPEALSDSSERLFSFGVIADVQFADLEDGFNFQGTRRRY
                     YRHSLLHLQGAIEDWNNESSMPCCVLQLGDIIDGYNAQYNASKKSLELVMDMFKRLKV
                     PVHHTWGNHEFYNFSREYLTHSKLNTKFLEDQIVHHPETMPSEDYYAYHFVPFPKFRF
                     ILLDAYDLSVLGVDQSSPKYEQCMKILREHNPNTELNSPQGELFL"
     variation       208
                     /gene="MDS006"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1052600"
     variation       517
                     /gene="MDS006"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1052601"
     variation       complement(1136)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:406446"
BASE COUNT      410 a    255 c    263 g    359 t
ORIGIN      
        1 cccacgcgtc cggggccggc gcacgaaacc tgtttggagg ttatggatga taaacccaat
       61 cctgaagccc taagtgacag ttcagagcgt cttttctcct ttggcgtcat cgcagatgtt
      121 caatttgcag acttagaaga tggctttaat ttccaaggaa ccaggcggcg atactacaga
      181 catagtcttc ttcacttaca gggtgccatt gaagactgga ataatgaaag cagcatgccc
      241 tgttgtgtcc ttcagcttgg agatatcatc gatggatata atgcacagta taatgcatcc
      301 aaaaagtccc tagaacttgt tatggacatg ttcaagaggc ttaaagttcc agttcatcat
      361 acatggggaa accatgaatt ctataacttc agtagagagt atttaacaca ctctaaactt
      421 aacactaagt ttctagaaga tcagattgta catcatcctg agaccatgcc ttcagaagat
      481 tattatgctt atcattttgt accattccct aaattccggt tcattttact tgatgcatat
      541 gacttgagtg tcttgggcgt ggatcagtct tctccaaaat acgagcagtg tatgaagata
      601 ttgagggagc acaatccaaa tacggaactg aatagtcctc aaggtgaatt attcctttga
      661 gctgagaatc taatagattg tctttaaatt cttcagctac cttttattca gcaggaagat
      721 ggacaattaa ggactttctg agccccagtt tgtccagttt aatggaggat tcagccaaga
      781 acagctaaac tggttgaatg aagtgctaac attctctgac acaaaccaag aaaaggtggt
      841 gattgccatc ttcccattta cccggacgcc tctgacaatg tgtgcctggc ctggaactac
      901 agagatgccc tggcagtcat ttggtctcat gagtgtgtgg tgtgtttctt tgctggtcac
      961 acccatgatg gtggctactc tgaggatcct tttggtgtat accacgtcaa cctagaagga
     1021 gttattgaaa cagctccaga cagccaagcc tttggcacag ttcatgtcta tcctgacaaa
     1081 atgatgttga aagggagagg cagagttcca gatagaatta tgaattacaa gaaaggaaga
     1141 gccttccatt gttagtctaa tttattttaa cttgatagaa aatgagcttt gtgtttgtcc
     1201 ctcctaaaca aaaaaataaa aatcctctgt ctcatcaaaa aaaaaaaaaa aaaaaaaaaa
     1261 aaaaaaaaaa aaaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_030938. Homo sapiens like...[gi:20070348] Links  


LOCUS       VMP1                    2530 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens likely ortholog of rat vacuole membrane protein 1
            (VMP1), mRNA.
ACCESSION   NM_030938
VERSION     NM_030938.2  GI:20070348
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2530)
  AUTHORS   Wu,G. and Couch,F.J.
  TITLE     Homo sapiens likely ortholog of rat vacuole membrane protein 1
            (VMP1), mRNA
  JOURNAL   Unpublished (1999)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF214006.1.
            On Apr 8, 2002 this sequence version replaced gi:13569906.
FEATURES             Location/Qualifiers
     source          1..2530
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.1"
     gene            1..2530
                     /gene="VMP1"
                     /note="DKFZP566I133"
                     /db_xref="LocusID:81671"
     CDS             114..1334
                     /gene="VMP1"
                     /note="contain transmembrane domains"
                     /codon_start=1
                     /product="hypothetical protein DKFZp566I133"
                     /protein_id="NP_112200.2"
                     /db_xref="GI:20070349"
                     /db_xref="LocusID:81671"
                     /translation="MAENGKNCDQRRVAMNKEHHNGNFTDPSSVNEKKRREREERQNI
                     VLWRQPLITLQYFSLEILVILKEWTSKLWHRQSIVVSFLLLLAVLIATYYVEGVHQQY
                     VQRIEKQFLLYAYWIGLGILSSVGLGTGLHTFLLYLGPHIASVTLAAYECNSVNFPEP
                     PYPDQIICPDEEGTEGTISLWSIISKVRIEACMWGIGTAIGELPPYFMARAARLSGAE
                     PDDEEYQEFEEMLEHAESAQDFASRAKLAVQKLVQKVGFFGILACASIPNPLFDLAGI
                     TCGHFLVPFWTFFGATLIGKAIIKMHIQKIFVIITFSKHIVEQMVAFIGAVPGIGPSL
                     QKPFQEYLEAQRQKLHHKSEMGTPQGENWLSWMFEKLVVVMVCYFILSIINSMAQSYA
                     KRIQQRLNSEEKTK"
BASE COUNT      722 a    487 c    542 g    779 t
ORIGIN      
        1 ctaaagtgga gcccagcggc gggtgtgaga gtccgtaagg agcagcttcc aggatcctga
       61 gatccggagc agccggggtc ggagcggctc ctcaagagtt actgatctat gaaatggcag
      121 agaatggaaa aaattgtgac cagagacgtg tagcaatgaa caaggaacat cataatggaa
      181 atttcacaga cccctcttca gtgaatgaaa agaagaggag ggagcgggaa gaaaggcaga
      241 atattgtcct gtggagacag ccgctcatta ccttgcagta tttttctctg gaaatccttg
      301 taatcttgaa ggaatggacc tcaaaattat ggcatcgtca aagcattgtg gtgtcttttt
      361 tactgctgct tgctgtgctt atagctacgt attatgttga aggagtgcat caacagtatg
      421 tgcaacgtat agagaaacag tttcttttgt atgcctactg gataggctta ggaattttgt
      481 cttctgttgg gcttggaaca gggctgcaca cctttctgct ttatctgggt ccacatatag
      541 cctcagttac attagctgct tatgaatgca attcagttaa ttttcccgaa ccaccctatc
      601 ctgatcagat tatttgtcca gatgaagagg gcactgaagg aaccatttct ttgtggagta
      661 tcatctcaaa agttaggatt gaagcctgca tgtggggtat cggtacagca atcggagagc
      721 tgcctccata tttcatggcc agagcagctc gcctctcagg tgctgaacca gatgatgaag
      781 agtatcagga atttgaagag atgctggaac atgcagagtc tgcacaagac tttgcctccc
      841 gggccaaact ggcagttcaa aaactagtac agaaagttgg attttttgga attttggcct
      901 gtgcttcaat tccaaatcct ttatttgatc tggctggaat aacgtgtgga cactttctgg
      961 tacctttttg gaccttcttt ggtgcaaccc taattggaaa agcaataata aaaatgcata
     1021 tccagaaaat ttttgttata ataacattca gcaagcacat agtggagcaa atggtggctt
     1081 tcattggtgc tgtccccggc ataggtccat ctctgcagaa gccatttcag gagtacctgg
     1141 aggctcaacg gcagaagctt caccacaaaa gcgaaatggg cacaccacag ggagaaaact
     1201 ggttgtcctg gatgtttgaa aagttggtcg ttgtcatggt gtgttacttc atcctatcta
     1261 tcattaactc catggcacaa agttatgcca aacgaatcca gcagcggttg aactcagagg
     1321 agaaaactaa ataagtagag aaagttttaa actgcagaaa ttggagtgga tgggttctgc
     1381 cttaaattgg gaggactcca agccgggaag gaaaattccc ttttccaacc tgtatcaatt
     1441 tttacaactt ttttcctgaa agcagtttag tccatacttt gcactgacat actttttcct
     1501 tctgtgctaa ggtaaggtat ccaccctcga tgcaatccac cttgtgtttt cttagggtgg
     1561 aatgtgatgt tcagcagcaa acttgcaaca gactggcctt ctgtttgtta ctttcaaaag
     1621 gcccacatga tacaattaga gaattcccac cgcacaaaaa aagttcctaa gtatgttaaa
     1681 tatgtcaagc tttttaggct tgtcacaaat gattgctttg ttttcctaag tcatcaaaat
     1741 gtatataaat tatctagatt ggataacagt cttgcatgtt tatcatgtta caatttaata
     1801 ttccatcctg cccaaccctt cctctcccat cctcaaaaaa gggccatttt atgatgcatt
     1861 gcacaccctc tggggaaatt gatctttaaa ttttgagaca gtataaggaa aatctggttg
     1921 gtgtcttaca agtgagctga caccattttt tattctgtgt atttagaatg aagtcttgaa
     1981 aaaaacttta taaagacatc tttaatcatt ccaaaattgt gtccgttttc ttgagcgttt
     2041 tgatttttta cttttagctt ataccagctg aatggcagcc ttgcctaatc cacctacaac
     2101 aagaatttct taagctttct tttatttgca tgagagagcc actaccaagg catgttttgt
     2161 tatgctgaaa ctgggctgct gcatactgct aaatggcacc tctgggattg gcctacctgg
     2221 ggatttcttg gtttgtgaaa acaggagagg agaaatatct catacaagtg aaaggatact
     2281 ggagagagaa attacccatt tctaaaaaaa aaccacactc tgtcgtatct gtgttaatgt
     2341 tttctagcat gtactctggt ttcaacagac acaaatttat atgttaaccc agttttcttg
     2401 ccgttctgta agtgttttat tcttagtgtg atttttttcc attgggatgt ttttgattga
     2461 acttgttcat tttgttttgc ttgggaggaa aataaacaat tttacttttt tccttaaaaa
     2521 aaaaaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinPubMedPubMedTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&7




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_021175. Homo sapiens hepc...[gi:10863972] Links  


LOCUS       HAMP                     391 bp    mRNA    linear   PRI 17-NOV-2001
DEFINITION  Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.
ACCESSION   NM_021175
VERSION     NM_021175.1  GI:10863972
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 391)
  AUTHORS   Krause,A., Neitz,S., Magert,H.J., Schulz,A., Forssmann,W.G.,
            Schulz-Knappe,P. and Adermann,K.
  TITLE     LEAP-1, a novel highly disulfide-bonded human peptide, exhibits
            antimicrobial activity
  JOURNAL   FEBS Lett. 480 (2-3), 147-150 (2000)
  MEDLINE   20487130
   PUBMED   11034317
REFERENCE   2  (bases 1 to 391)
  AUTHORS   Park,C.H., Valore,E.V., Waring,A.J. and Ganz,T.
  TITLE     Hepcidin, a urinary antimicrobial peptide synthesized in the liver
  JOURNAL   J. Biol. Chem. 276 (11), 7806-7810 (2001)
  MEDLINE   21269328
   PUBMED   11113131
REFERENCE   3  (bases 1 to 391)
  AUTHORS   Pigeon,C., Ilyin,G., Courselaud,B., Leroyer,P., Turlin,B.,
            Brissot,P. and Loreal,O.
  TITLE     A new mouse liver-specific gene, encoding a protein homologous to
            human antimicrobial peptide hepcidin, is overexpressed during iron
            overload
  JOURNAL   J. Biol. Chem. 276 (11), 7811-7819 (2001)
  MEDLINE   21269329
   PUBMED   11113132
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AJ277280.1.
FEATURES             Location/Qualifiers
     source          1..391
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.1"
                     /tissue_type="liver"
                     /clone_lib="RT-PCR fragments in pGEM"
                     /dev_stage="adult"
     gene            1..391
                     /gene="HAMP"
                     /note="LEAP-1; HEPC"
                     /db_xref="LocusID:57817"
                     /db_xref="MIM:606464"
     CDS             39..293
                     /gene="HAMP"
                     /function="antimicrobial"
                     /note="liver-expressed antimicrobial peptide"
                     /codon_start=1
                     /evidence=experimental
                     /product="hepcidin antimicrobial peptide"
                     /protein_id="NP_066998.1"
                     /db_xref="GI:10863973"
                     /db_xref="LocusID:57817"
                     /db_xref="MIM:606464"
                     /translation="MALSSQIWAACLLLLLLLASLTSGSVFPQQTGQLAELQPQDRAG
                     ARASWMPMFQRRRRRDTHFPICIFCCGCCHRSKCGMCCKT"
     mat_peptide     39..290
                     /gene="HAMP"
                     /product="hepcidin antimicrobial peptide"
                     /evidence=experimental
     sig_peptide     39..290
                     /gene="HAMP"
     polyA_signal    364..369
                     /gene="HAMP"
BASE COUNT       78 a    129 c     97 g     87 t
ORIGIN      
        1 tcaagaccca gcagtgggac agccagacag acggcacgat ggcactgagc tcccagatct
       61 gggccgcttg cctcctgctc ctcctcctcc tcgccagcct gaccagtggc tctgttttcc
      121 cacaacagac gggacaactt gcagagctgc aaccccagga cagagctgga gccagggcca
      181 gctggatgcc catgttccag aggcgaagga ggcgagacac ccacttcccc atctgcattt
      241 tctgctgcgg ctgctgtcat cgatcaaagt gtgggatgtg ctgcaagacg tagaacctac
      301 ctgccctgcc cccgtcccct cccttcctta tttattcctg ctgccccaga acataggtct
      361 tggaataaaa tggctggttc ttttgttttc c
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  



&&&&&&&&&&&





    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003272. Homo sapiens tran...[gi:4507544] Links  


LOCUS       TM7SF1                  1998 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens transmembrane 7 superfamily member 1 (upregulated in
            kidney) (TM7SF1), mRNA.
ACCESSION   NM_003272
VERSION     NM_003272.1  GI:4507544
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1998)
  AUTHORS   Spangenberg,C., Winterpacht,A., Zabel,B.U. and Lobbert,R.W.
  TITLE     Cloning and characterization of a novel gene (TM7SF1) encoding a
            putative seven-pass transmembrane protein that is upregulated
            during kidney development
  JOURNAL   Genomics 48 (2), 178-185 (1998)
  MEDLINE   98190517
   PUBMED   9521871
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF027826.1.
FEATURES             Location/Qualifiers
     source          1..1998
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42-q43"
     gene            1..1998
                     /gene="TM7SF1"
                     /db_xref="LocusID:7107"
                     /db_xref="MIM:604658"
     CDS             52..1251
                     /gene="TM7SF1"
                     /note="putative g protein-coupled receptor; transmembrane
                     7 superfamily member 1 (upregulated in"
                     /codon_start=1
                     /product="transmembrane 7 superfamily member 1
                     (upregulated in kidney)"
                     /protein_id="NP_003263.1"
                     /db_xref="GI:4507545"
                     /db_xref="LocusID:7107"
                     /db_xref="MIM:604658"
                     /translation="MRPERPRPRGSAPGPMETPPWDPARNDSLPPTLTPAVPPYVKLG
                     LTVVYTVFYALLFVFIYVQLWLVLRYRHKRLSYQSVFLFLCLFWASLRTVLFSFYFKD
                     FVAANSLSPFVFWLLYCFPVCLQFFTLTLMNLYFTQVIFKAKSKYSPELLKYRLPLYL
                     ASLFISLVFLLVNLTCAVLVKTGNWERKVIVSVRVAINDTLFVLCAVSLSICLYKISK
                     MSLANIYLESKGSSVCQVTAIGVTVILLYTSRACYNLFILSFSQNKSVHSFDYDWYNV
                     SDQADLKNQLGDAGYVLFGVVLFVWELLPTTLVVYFFRVRNPTKDLTNPGMVPSHGFS
                     PRSYFFDNPRRYDSDDDLAWNIAPQGLQGGFAPDYYDWGQQTNSFLAQAGTLQDSTLD
                     PDKPSLG"
     variation       complement(657)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3736902"
     variation       complement(1624)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:5873"
BASE COUNT      481 a    497 c    424 g    596 t
ORIGIN      
        1 cggcgcgatg cgcggagacc cccgcggggg cggcggcggc cgtgagcccc gatgaggccc
       61 gagcgtcccc ggccgcgcgg cagcgccccc ggcccgatgg agaccccgcc gtgggaccca
      121 gcccgcaacg actcgctgcc gcccacgctg accccggccg tgccccccta cgtgaagctt
      181 ggcctcaccg tcgtctacac cgtgttctac gcgctgctct tcgtgttcat ctacgtgcag
      241 ctctggctgg tgctgcgtta ccgccacaag cggctcagct accagagcgt cttcctcttt
      301 ctctgcctct tctgggcctc cctgcggacc gtcctcttct ccttctactt caaagacttc
      361 gtggcggcca attcgctcag ccccttcgtc ttctggctgc tctactgctt ccctgtgtgc
      421 ctgcagtttt tcaccctcac gctgatgaac ttgtacttca cgcaggtgat tttcaaagcc
      481 aagtcaaaat attctccaga attactcaaa taccggttgc ccctctacct ggcctccctc
      541 ttcatcagcc ttgttttcct gttggtgaat ttaacctgtg ctgtgctggt aaagacggga
      601 aattgggaga ggaaggttat cgtctctgtg cgagtggcca ttaatgacac gctcttcgtg
      661 ctgtgtgccg tctctctctc catctgtctc tacaaaatct ctaagatgtc cttagccaac
      721 atttacttgg agtccaaggg ctcctccgtg tgtcaagtga ctgccatcgg tgtcaccgtg
      781 atactgcttt acacctctcg ggcctgctac aacctgttca tcctgtcatt ttctcagaac
      841 aagagcgtcc attcctttga ttatgactgg tacaatgtat cagaccaggc agatttgaag
      901 aatcagctgg gagatgctgg atacgtatta tttggagtgg tgttatttgt ttgggaactc
      961 ttacctacca ccttagtcgt ttatttcttc cgagttagaa atcctacaaa ggaccttacc
     1021 aaccctggaa tggtccccag ccatggattc agtcccagat cttatttctt tgacaaccct
     1081 cgaagatatg acagtgatga tgaccttgcc tggaacattg cccctcaggg acttcaggga
     1141 ggttttgctc cagattacta tgattgggga caacaaacta acagcttcct ggcacaagca
     1201 ggaactttgc aagactcaac tttggatcct gacaaaccaa gccttgggta gcatcagtta
     1261 acagttttat ggacgattcc tcagatgaaa agcttcagaa aagcatagtg acagctgaat
     1321 ttttagggca cttttcctta agaaatagaa cttgattttt atttgttaca ggtttccaat
     1381 ggccccatag gaataagcaa taatgtagac tgataaaccc ttattttagt actaaagagg
     1441 gagccttgct atttcagtgg gtataattta aactttttaa agaaaatctg tacttttata
     1501 aagatgtatt ttgtataact taaataataa tgctaaagta tactagggtt tttttttctt
     1561 gagaatgtta ctgcaatcat gttgtagttt gcacagactt ttatgcataa ttcactttaa
     1621 aaatatagaa tatatggtct aatagttttt taaagctttt ggactaaagt attccacaaa
     1681 tcttacctct ttaggtcact gatggtcact ccgattctga gtgccacatt ggtagactcc
     1741 taaaatacag ttgacaactt agccaattgc aactccagtg ttgataatta aaatgaaatg
     1801 gtaaagcagc agactgtaag gtctttagag attttttttt aaggttcagg ccgtaggttc
     1861 ctcaaggaat ctcttaagtt ttgcccaaag actggtactt cctttcagta gggcgctaat
     1921 gtatacacat taatgataag ttgataacat taaaaatgta gctgacttat cctattaaac
     1981 ctcctctgct atgttcac
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_145342. Homo sapiens mito...[gi:21735558] Links  


LOCUS       MAP3K7IP2               4359 bp    mRNA    linear   PRI 12-JUL-2002
DEFINITION  Homo sapiens mitogen-activated protein kinase kinase kinase 7
            interacting protein 2 (MAP3K7IP2), transcript variant 2, mRNA.
ACCESSION   NM_145342
VERSION     NM_145342.1  GI:21735558
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4359)
  AUTHORS   Nagase,T., Ishikawa,K., Suyama,M., Kikuno,R., Miyajima,N.,
            Tanaka,A., Kotani,H., Nomura,N. and Ohara,O.
  TITLE     Prediction of the coding sequences of unidentified human genes. XI.
            The complete sequences of 100 new cDNA clones from brain which code
            for large proteins in vitro
  JOURNAL   DNA Res. 5 (5), 277-286 (1998)
  MEDLINE   99087487
   PUBMED   9872452
REFERENCE   2  (bases 1 to 4359)
  AUTHORS   Takaesu,G., Kishida,S., Hiyama,A., Yamaguchi,K., Shibuya,H.,
            Irie,K., Ninomiya-Tsuji,J. and Matsumoto,K.
  TITLE     TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK
            by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway
  JOURNAL   Mol. Cell 5 (4), 649-658 (2000)
  MEDLINE   20337949
   PUBMED   10882101
REFERENCE   3  (bases 1 to 4359)
  AUTHORS   Takaesu,G., Ninomiya-Tsuji,J., Kishida,S., Li,X., Stark,G.R. and
            Matsumoto,K.
  TITLE     Interleukin-1 (IL-1) receptor-associated kinase leads to activation
            of TAK1 by inducing TAB2 translocation in the IL-1 signaling
            pathway
  JOURNAL   Mol. Cell. Biol. 21 (7), 2475-2484 (2001)
  MEDLINE   21160279
   PUBMED   11259596
REFERENCE   4  (bases 1 to 4359)
  AUTHORS   Qian,Y., Commane,M., Ninomiya-Tsuji,J., Matsumoto,K. and Li,X.
  TITLE     IRAK-mediated translocation of TRAF6 and TAB2 in the
            interleukin-1-induced activation of NFkappa B
  JOURNAL   J. Biol. Chem. 276 (45), 41661-41667 (2001)
  MEDLINE   21551165
   PUBMED   11518704
REFERENCE   5  (bases 1 to 4359)
  AUTHORS   Mizukami,J., Takaesu,G., Akatsuka,H., Sakurai,H.,
            Ninomiya-Tsuji,J., Matsumoto,K. and Sakurai,N.
  TITLE     Receptor activator of NF-kappaB ligand (RANKL) activates TAK1
            mitogen-activated protein kinase kinase kinase through a signaling
            complex containing RANK, TAB2, and TRAF6
  JOURNAL   Mol. Cell. Biol. 22 (4), 992-1000 (2002)
  MEDLINE   21668974
   PUBMED   11809792
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL117407.1 and AB018276.2.
            Summary: The protein encoded by this gene is an activator of
            MAP3K7/TAK1, which is required for for the IL-1 induced activation
            of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase
            complex with TRAF6, MAP3K7 and TAB1, thus serves as an adaptor
            linking MAP3K7 and TRAF6. This protein, TAB1, and MAP3K7 also
            participate in the signal transduction induced by TNFSF11/RANKl
            through the activation of the receptor activator of NF-kappB
            (TNFRSF11A/RANK), which may regulate the development and function
            of osteoclasts. Two alternatively spliced transcript variants of
            this gene encoding distinct isoforms have been reported.
            Transcript Variant: This variant (2) contains an extra segment in
            the coding region which introduces a translation stop codon, when
            compared to variant 1. The resulting isoform (2) contains a
            distinct and shorter C-terminus, as compared to isoform 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..4359
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.1-q25.3"
     gene            1..4359
                     /gene="MAP3K7IP2"
                     /note="TAB2; FLJ21885; KIAA0733"
                     /db_xref="LocusID:23118"
                     /db_xref="MIM:605101"
     CDS             176..1786
                     /gene="MAP3K7IP2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     TAK1-binding protein 2"
                     /codon_start=1
                     /product="mitogen-activated protein kinase kinase kinase 7
                     interacting protein 2, isoform 2"
                     /protein_id="NP_663317.1"
                     /db_xref="GI:21735559"
                     /db_xref="LocusID:23118"
                     /db_xref="MIM:605101"
                     /translation="MAQGSHQIDFQVLHDLRQKFPEVPEVVVSRCMLQNNNNLDACCA
                     VLSQESTRYLYGEGDLNFSDDSGISGLRNHMTSLNLDLQSQNIYHHGREGSRMNGSRT
                     LTHSISDGQLQGGQSNSELFQQEPQTAPAQVPQGFNVFGMSSSSGASNSAPHLGFHLG
                     SKGTSSLSQQTPRFNPIMVTLAPNIQTGRNTPTSLHIHGVPPPVLNSPQGNSIYIRPY
                     ITTPGGTTRQTQQHSGWVSQFNPMNPQQVYQPSQPGPWTTCPASNPLSHTSSQQPNQQ
                     GHQTSHVYMPISSPTTSQPPTIHSSGSSQSSAHSQYNIQNISTGPRKNQIEIKLEPPQ
                     RNNSSKLRSSGPRTSSTSSSVNSQTLNRNQPTVYIAASPPNTDELMSRSQPKVYISAN
                     AATGDEQVMRNQPTLFISTNSGASAASRNMSGQVSMGPAFIHHHPPKSRAIGNNSATS
                     PRVVVTQPNTKYTFKITVSPNKPPAVSPGVVSPTFELTNLLNHPDHYVETENIQHLTD
                     PTLAHVDRISETRKLSMGSDDAAYTQDI"
     misc_feature    197..325
                     /gene="MAP3K7IP2"
                     /note="Region: pfam02845, CUE domain. Domain that may be
                     involved in binding ubiquitin-conjugating enzymes (UBCs).
                     CUE domains also occur in two protein of the IL-1 signal
                     transduction pathway, tollip and TAB2"
     misc_feature    197..325
                     /gene="MAP3K7IP2"
                     /note="Region: smart00546, CUE, Domain that may be
                     involved in binding ubiquitin-conjugating enzymes (UBCs);
                     CUE domains also occur in two protein of the IL-1 signal
                     transduction pathway, tollip and TAB2. Ponting (Biochem.
                     J.) 'Proteins of the Endoplasmic reticulum' (in press)"
     variation       1179
                     /gene="MAP3K7IP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1053435"
     variation       complement(1615)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3734296"
     misc_feature    1779..1988
                     /gene="MAP3K7IP2"
                     /note="Region: the region absent in variant 1"
     variation       complement(2458)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:652921"
     variation       3088
                     /gene="MAP3K7IP2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:7896"
     variation       complement(3516)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2744434"
     polyA_signal    4247..4252
                     /gene="MAP3K7IP2"
     polyA_site      4264
                     /gene="MAP3K7IP2"
                     /evidence=experimental
     polyA_signal    4335..4340
                     /gene="MAP3K7IP2"
     polyA_site      4353
                     /gene="MAP3K7IP2"
                     /evidence=experimental
BASE COUNT     1353 a    932 c    863 g   1211 t
ORIGIN      
        1 ggaggcgacg gtggagacgg ctgccctagt gggagaggcg gcggcggcgg ccgaggagga
       61 ggagggggaa gcggcggcgg caaaggaaaa tgcttggaca gaagagatga gtactatttc
      121 cactaaggcc tagaattgcc tactgtacaa atagtcctga tcaggcaata tacgaatggc
      181 ccaaggaagc caccaaattg attttcaggt tttacatgac ctgcgacaaa aattccctga
      241 agtacctgaa gttgttgtat ccaggtgcat gttacagaat aataataacc tggatgcctg
      301 ctgtgctgtt ctctctcagg agagtacaag atatctttat ggtgaaggag acttgaattt
      361 ttcagatgat tctggaattt ctggtctacg caatcacatg acttctctca acttggactt
      421 gcaatcacag aacatttacc accatggaag agaaggaagt aggatgaatg gaagtaggac
      481 tctaacgcac agcattagtg atggacaact tcaaggtggc cagtccaata gtgaactatt
      541 tcagcaggag ccacagacag caccagctca agttcctcaa ggctttaatg tttttggaat
      601 gtccagttcc tctggtgctt caaattcagc accacatctt ggatttcact taggcagcaa
      661 aggaacatct agcctttctc aacaaactcc cagatttaat cccattatgg taactttagc
      721 cccaaatatc cagactggtc gtaatactcc tacatctttg cacatacatg gtgtacctcc
      781 acctgtactt aacagtccac agggaaattc tatctatatt aggccttaca ttacaactcc
      841 tggtggtaca actcgacaga cacaacagca ttctggctgg gtatctcagt ttaatcccat
      901 gaaccctcag caagtttatc agccttcaca gcctggtccc tggactactt gtcctgcatc
      961 taatcctctg tcacatacct catctcaaca gccaaatcag caaggccacc agacctctca
     1021 tgtctacatg ccaatcagtt cacctactac ttcacaacca ccaaccattc attcatctgg
     1081 tagctcacag tcttctgccc atagccaata taacattcag aatatttcaa caggacctcg
     1141 aaaaaaccag attgaaatca aacttgaacc cccacaaaga aataattctt caaaactgcg
     1201 ttcttctgga cctcgaacct ccagcacttc ctcttcagtc aatagccaga ccttaaacag
     1261 aaatcagccc actgtttaca tagctgccag ccccccaaat acggatgagc tgatgtcccg
     1321 tagtcaacct aaggtctata tttcagcgaa tgctgccaca ggagatgaac aggtcatgcg
     1381 gaatcagccc acactcttca tatccacaaa ctctggagca tctgctgcct ccaggaacat
     1441 gtctgggcaa gtgagcatgg gtcctgcctt tattcatcac catcctccca aaagtcgagc
     1501 aataggcaat aactctgcaa cctctcctcg agtggtagtc actcagccca atacgaaata
     1561 cactttcaaa attacagtct ctcccaataa gccccctgca gtttcaccag gggtggtgtc
     1621 ccctaccttt gaacttacaa atcttcttaa tcatcctgat cattatgtag aaaccgagaa
     1681 tattcagcac ctcacggacc ctacattagc acatgtggat agaataagtg aaacacggaa
     1741 actgagtatg ggatctgatg atgctgccta cacacaagat atttgaagaa taagtaattc
     1801 ttggctgggc atggtggctc acgcctgtaa ttccagtgct ttgggaggcc aagatgggag
     1861 gatcatttga gcccaggagt ttgagaccag ctggggcaac atatggagac tccgtctcta
     1921 cagaaggttt tgaaattatg caggcatggt ggcacacacc tgtagtccca gttactcagt
     1981 agactgagct cttttggtac accagaaggc cagaatggaa cgacttcaaa gagaacttga
     2041 gattcaaaag aaaaagctgg ataaattaaa atctgaggtt aatgaaatgg aaaataatct
     2101 aactcgaagg cgcctgaaaa gatcaaattc tatatcccag ataccttccc ttgaagaaat
     2161 gcagcagctg agaagttgta atagacaact ccagattgac attgactgct taaccaaaga
     2221 aattgatctt tttcaagccc gaggaccaca ttttaacccc agcgctattc ataactttta
     2281 tgacaatatt ggatttgtag gtcctgtgcc accaaaaccc aaagatcaaa ggtccatcat
     2341 caaaacacca aagactcaag acacagaaga tgatgaggga gctcagtgga attgtaccgc
     2401 ctgtactttt ttgaaccatc cagccttaat tcgctgtgaa cagtgtgaga tgccaaggca
     2461 tttctgagcc aaatggccct gtatcttctc taaaaccaca tctaaagttc aagaaactag
     2521 tctgtcatcg ggaaaaagtt tcactgctac ataggatttt gtcaaattga aggtgtgaca
     2581 agatggtgtt ctgctaatgt taaatgtcag cccacagagc taataatacc tcagtataat
     2641 gtcatgagca gttgaaattc atcacatgaa aagtaatctg ctgaaagact tggttgccca
     2701 ctgcctaact gtgtacagtg ttaccagtgt cccattatgg ataattctca atatgttaac
     2761 acctaggtgt tcccaatacc tttttcccct catgtcacta ctgaattttg acaggaggaa
     2821 ggaatagaat gatagcttgt tttatttgta aagctttcag tgaaacacta catacacgaa
     2881 gaaaaggaac aaggtttaac tatttaagaa ccatttgctg ccgcatagtg ccattggata
     2941 gggaagaact tcagaaatct gtggtactct tggccttgtc tttgtcttcc ctgaacgtgt
     3001 ctccactctg tgaagccagc atctaggggc taaagatgca aaggaaagca gcatgcattg
     3061 tctgtacaaa tgtgcagcga aataccccaa agcttttcct actgtacaga tctctcgagt
     3121 ctgctttaag tgatttcttt tcttcttgat tattttctta tatttctata tgtatagtgt
     3181 aatagccttt tgttaactaa ttttcttttt tccttttagt aattaagcac gatcatgtcc
     3241 ctttttaagc cttacctgag aggaacaatg ccttaaaata aaaaagcatt aatgagatga
     3301 aagtatgcac agaataactt tcctctactt attctgtact ttgccctcat gagttccaat
     3361 gttgtgtgaa gacaggcaga tgctgcacag tgaattgcag atgatattac agaagtgatg
     3421 tctgtaggtc acattaaata ctgacttgag cagtgggtga cacaacacag tgtttgtctt
     3481 ccacagggaa gcttaaaaca aaagatattt ttaacccact gacagaacaa caaggttaag
     3541 cttcatctgc ttggtgtccc acagaacttg cacaagcagt tgttattggg aaagtacagt
     3601 ctcaaaacca gcaacagcag cagtacctac agcccttttt ttggagagaa gtttaaatgc
     3661 tttactgttg gggcagtcca tttctaatcc tgacttggtg acagtatcat gtgtatttat
     3721 aaaacaaggc tagccatatt taggacaact gaagaaaagc tggaaaaaaa aacaagcaaa
     3781 cttgaacact gaagcaacct caagcatctc tttattttga tgatatattt ttgtaaggaa
     3841 aatattcaga tgatcaggaa tgtatataac tgaaatcaag aaaaagaaca gtatgcattt
     3901 aaaaagacag aattatgaaa ttatatgagt gcttagaatg gggctaaggg aagtgctgaa
     3961 atagagcaaa ggatggaaga taatatagac taccacccac tgtaaatgtt tgcaagtggc
     4021 tgtgttttaa atgggattat tacagttgat ctctatgaat gtcagagccc taactttcag
     4081 gctttgcatt ttgtatatgg gaagaaatat gacaatccta ggtaattaaa ccatagaccc
     4141 aaagccctta cgtttgatgc aatttatttt taaaataggc cttgtttttc agcttcatct
     4201 gcagttctat gtgaagattg ataaatcagt ttttacttgt tttattaata aaacgtaatt
     4261 tggatatctt gagttgatgg ttttgtgatt tagctgggta aactatcttt gtaacagata
     4321 agttatttat aaaaattaaa aaacttatat tctaatgtg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001482. Homo sapiens glyc...[gi:4503932] Links  


LOCUS       GATM                    2330 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens glycine amidinotransferase (L-arginine:glycine
            amidinotransferase) (GATM), mRNA.
ACCESSION   NM_001482
VERSION     NM_001482.1  GI:4503932
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from S68805.1.
FEATURES             Location/Qualifiers
     source          1..2330
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     gene            1..2330
                     /gene="GATM"
                     /note="AGAT"
                     /db_xref="LocusID:2628"
                     /db_xref="MIM:602360"
     CDS             70..1341
                     /gene="GATM"
                     /note="This sequence comes from Fig. 4"
                     /codon_start=1
                     /product="glycine amidinotransferase (L-arginine:glycine
                     amidinotransferase)"
                     /protein_id="NP_001473.1"
                     /db_xref="GI:4503933"
                     /db_xref="LocusID:2628"
                     /db_xref="MIM:602360"
                     /translation="MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQSTQAATA
                     SSRNSCAADDKATEPLPKDCPVSSYNEWDPLEEVIVGRAENACVPPFTIEVKANTYEK
                     YWPFYQKQGGHYFPKDHLKKAVAEIEEMCNILKTEGVTVRRPDPIDWSLKYKTPDFES
                     TGLYSAMPRDILIVVGNEIIEAPMAWRSRFFEYRAYRSIIKDYFHRGAKWTTAPKPTM
                     ADELYNQDYPIHSVEDRHKLAAQGKFVTTEFEPCFDAADFIRAGRDIFAQRSQVTNYL
                     GIEWMRRHLAPDYRVHIISFKDPNPMHIDATFNIIGPGIVLSNPDRPCHQIDLFKKAG
                     WTIITPPTPIIPDDHPLWMSSKWLSMNVLMLDEKRVMVDANEVPIQKMFEKLGITTIK
                     VNIRNANSLGGGFHCWTCDVRRRGTLQSYLD"
     misc_feature    562..1338
                     /gene="GATM"
                     /note="Amidinotransf; Region: Amidinotransferase"
                     /db_xref="CDD:pfam02274"
     variation       399
                     /gene="GATM"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3759898"
     variation       897
                     /gene="GATM"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3210025"
     variation       903
                     /gene="GATM"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210026"
     variation       906
                     /gene="GATM"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3210027"
     variation       942
                     /gene="GATM"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3210028"
     variation       954
                     /gene="GATM"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210029"
     variation       963
                     /gene="GATM"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3210030"
     variation       997
                     /gene="GATM"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049491"
     variation       1038
                     /gene="GATM"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3210031"
     variation       1904
                     /gene="GATM"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1049502"
     variation       1941
                     /gene="GATM"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049503"
     variation       complement(2056)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1049508"
     variation       2067
                     /gene="GATM"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1049511"
     variation       2283
                     /gene="GATM"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049518"
BASE COUNT      676 a    491 c    479 g    684 t
ORIGIN      
        1 gaattcggca cgagcgacgc ggcccagagg ccaggaacat tccgcgcgtg gaccagccgg
       61 gccagggcga tgctgcgggt gcggtgtctg cgcggcggga gccgcggcgc cgaggcggtg
      121 cactacatcg gatctcggct tggacgaacc ttgacaggat gggtgcagcg aactttccag
      181 agcacccagg cagctacggc ttcctcccgg aactcctgtg cagctgacga caaagccact
      241 gagcctctgc ccaaggactg ccctgtctct tcttacaacg aatgggaccc cttagaggaa
      301 gtgatagtgg gcagagcaga aaacgcctgt gttccaccgt tcaccatcga ggtgaaggcc
      361 aacacatatg aaaagtactg gccattttac cagaagcaag gagggcatta ttttcccaaa
      421 gatcatttga aaaaggctgt tgctgaaatt gaagaaatgt gcaatatttt aaaaacggaa
      481 ggagtgacag taaggaggcc tgaccccatt gactggtcat tgaagtataa aactcctgat
      541 tttgagtcta cgggtttata cagtgcaatg cctcgagaca tcctgatagt tgtgggcaat
      601 gagattatcg aggctcccat ggcatggcgt tcacgcttct ttgagtaccg agcgtacagg
      661 tcaattatca aagactactt ccaccgtggc gccaagtgga caacagctcc taagcccaca
      721 atggctgatg agctttataa ccaggattat cccatccact ctgtagaaga cagacacaaa
      781 ttggctgctc agggaaaatt tgtgacaact gagtttgagc catgctttga tgctgctgac
      841 ttcattcgag ctggaagaga tatttttgca cagagaagcc aggttacaaa ctacctaggc
      901 attgaatgga tgcgtaggca tcttgctcca gactacagag tgcatatcat ctcctttaaa
      961 gatcccaatc ccatgcatat tgatgctacc ttcaacatca ttggacctgg tattgtgctt
     1021 tccaaccctg accgaccatg tcaccagatt gatcttttca agaaagcagg atggactatc
     1081 attactcctc caacaccaat catcccagac gatcatccac tctggatgtc atccaaatgg
     1141 ctttccatga atgtcttaat gctagatgaa aaacgtgtta tggtggatgc caatgaagtt
     1201 ccaattcaaa agatgtttga aaagctgggt atcactacca ttaaagttaa cattcgtaat
     1261 gccaattccc tgggaggagg cttccattgc tggacctgcg atgtccggcg ccgaggcacc
     1321 ctacagtcct acttggactg aacaggcctg atggagcttg tggctggcct cagatacacc
     1381 taagaagctt aggggcaagg ttcattctcc tgctttaaaa agtgcatgaa ctgtagtgct
     1441 ttaaacaatc atctccttaa caggggtcgt aagcctggtt tgcttctatt acttttcttt
     1501 gacataaaga aaataacttc tgctaggtat tactctctac tcctaaagtt atttactatt
     1561 tggcttcaag tataaaattt tggtgaatgt gtaccaagaa aaaattagtc acctgagtaa
     1621 cttggccact aataattaac catctacctc tgtttttaat tttctttcca aaaggcagct
     1681 tgaaatgttg gtcctaatct taattttttt tcctcttcta tagacttgag aatgtttttc
     1741 tctaaatgag agaaagactt agaatgtaca cagatccaaa atagaatcag attatctctt
     1801 tttttctaaa ggagagaaag acttagaaca tacacagatc ctaagtagaa ccaggtaatt
     1861 gtctcttttt ctaataagga atttgggtaa tttttaattt tttgtttttt aaaaaataac
     1921 ctagactatg caaaacatca aagtgaattt tccatgaatg tttttaatat tctcatctca
     1981 acattgtgat atatgctact aaaaaccttt tcatatacat cttacctcat ttcaagtgaa
     2041 ttattttaat ctttttctct ctttccaaaa atttacagga atgtttagtg taattggatt
     2101 tcgctatcag ttcccatcct taagttttga tattcaatat ctgatagata cactgcatct
     2161 ttggtcatct aagatttgtt tacaaatgtg caaattattt agagcataga ctttataagc
     2221 attaaaaaaa actaatggag gtaaaaccta aatgcgatgt gaaataattt tagtgttgat
     2281 actgtatgtg tatttttatt ctaataaact tttgtgttcc agattgaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_014308. Homo sapiens phos...[gi:7657432] Links  


LOCUS       P101-PI3K               3255 bp    mRNA    linear   PRI 10-DEC-2001
DEFINITION  Homo sapiens phosphoinositide-3-kinase, regulatory subunit,
            polypeptide p101 (P101-PI3K), mRNA.
ACCESSION   NM_014308
VERSION     NM_014308.1  GI:7657432
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3255)
  AUTHORS   Stephens,L., Hawkins,P.T. and Braselmann,S.
  TITLE     G-beta gamma regulated phosphatidylinositol 3-kinase
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF128881.1.
FEATURES             Location/Qualifiers
     source          1..3255
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.1"
     gene            1..3255
                     /gene="P101-PI3K"
                     /db_xref="LocusID:23533"
     CDS             68..2710
                     /gene="P101-PI3K"
                     /codon_start=1
                     /product="phosphoinositide-3-kinase, regulatory subunit,
                     polypeptide p101"
                     /protein_id="NP_055123.1"
                     /db_xref="GI:7657433"
                     /db_xref="LocusID:23533"
                     /translation="MQPGATTCTEDRIQHALERCLHGLSLSRRSTSWSAGLCLNCWSL
                     QELVSRDPGHFLILLEQILQKTREVQEKGTYDLLTPLALLFYSTVLCTPHFPPDSDLL
                     LKAASTYHRFLTWPVPYCSICQELLTFIDAELKAPGISYQRLVRAEQGLPIRSHRSST
                     VTVLLLNPVEVQAEFLAVANKLSTPGHSPHSAYTTLLLHAFQATFGAHCDVPGLHCRL
                     QAKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAVGEKAGFPGVLDTAKPG
                     KLHTIPIPVARCYTYSWSQDSFDILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDL
                     ETDGHCAERDSLLSTSSLASHDSTLSLASSQASGPALSRHLLTSFVSGLSDGMDSGYV
                     EDSEESSSEWPWRRGSQERRGHRRPGQKFIRIYKLFKSTSQLVLRRDSRSLEGSSDTA
                     LPLRRAGSLCSPLDEPVSPPSRAQRSRSLPQPKLGTQLPSWLLAPASRPQRRRPFLSG
                     DEDPKASTLRVVVFGSDRISGKVARAYSNLRRLENNRPLLTRFFKLQFFYVPVKRSHG
                     TSPGACPPPRSQTPSPPTDSPRHASPGELGTTPWEESTNDISHYLGMLDPWYERNVLG
                     LMHLPPEVLCQQSLKAEAQALEGSPTQLPILADMLLYYCRFAARPVLLQLYQTELTFI
                     TGEKTTEIFIHSLELGHSAATRAIKASGPGSKRLGIDGDREAVPLTLQIIYSKGAISG
                     RSRWSNLEKVCTSVNLNKACRKQEELDSSMEALTLNLTEVVKRQNSKSKKGFNQISTS
                     QIKVDKVQIIGSNSCPFAVCLDQDERKILQSVVRCEVSPCYKPEKSDLSSPPQTPPDL
                     PAQAAPDLCSLLCLPIMTFSGALP"
     variation       complement(1142)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:381309"
BASE COUNT      682 a   1050 c    906 g    617 t
ORIGIN      
        1 aagcttactc agcgcatctg ctacagcatt ttatcttccc aagagcccca tgaggcgatg
       61 acccaggatg cagccagggg ccacgacatg cacggaggac cgcatccagc atgccctgga
      121 acgctgcctg catggactca gcctcagccg ccgctccacc tcctggtcag ctgggctgtg
      181 tctgaactgc tggagcctgc aggagctggt cagcagggac ccgggccact tccttatcct
      241 ccttgagcag atcctgcaga agacccgaga ggtccaggag aagggcacct acgacctgct
      301 caccccgctg gccctgctct tctattccac tgttctttgt acaccacact tcccaccaga
      361 ctcggatctc cttctgaagg cagccagcac ctaccaccgg ttcctgacct ggcctgttcc
      421 ttactgcagc atctgccagg agctgctcac cttcattgat gctgaactca aggccccagg
      481 gatctcctac cagagactgg tgagggctga gcagggcctg cccatcagga gtcaccgcag
      541 ctccaccgtc accgtgctgc tgctgaaccc agtggaagtg caggccgagt tccttgctgt
      601 agccaataag ctgagtacgc ccggacactc gcctcacagt gcctacacca ccctgctcct
      661 gcacgccttc caggccacct ttggggccca ctgtgacgtc ccgggcctgc actgcaggct
      721 acaggccaag accctggcag agcttgagga catcttcacg gagaccgcag aggcacagga
      781 gctggcatct ggcatcgggg atgctgcaga ggcccggcgg tggctcagga ccaagctgca
      841 ggcggtggga gaaaaagctg gcttccctgg ggtgttagac actgcaaaac cagggaagct
      901 ccacaccatc cccatccctg tcgccaggtg ctacacctac agctggagcc aggacagctt
      961 tgacatcctg caggaaatcc tgctcaagga acaggagcta ctccagccag ggatcctggg
     1021 agatgatgaa gaggaggaag aggaggagga ggaggtggag gaggacttgg aaactgacgg
     1081 gcactgtgcc gagagagatt ccctgctctc caccagctct ttggcgtccc atgactccac
     1141 cttgtccctt gcatcctccc aggcctcggg gccggccctc tcgcgccatc tgctgacttc
     1201 ctttgtctca ggcctctctg atggcatgga cagcggctac gtggaggaca gcgaggagag
     1261 ctcctccgag tggccttgga ggcgtggcag ccaggaacgc cgaggccacc gcaggcctgg
     1321 gcagaagttc atcaggatct ataaactctt caagagcacc agccagctgg tactgcggag
     1381 ggactctcgg agcctggagg gcagctcgga cacggccctg cccctgaggc gggcagggag
     1441 cctctgcagc cccctggacg aaccagtatc acccccttcc cgggcccagc gctcccgctc
     1501 cctgccccag cccaaactcg gtacccagct gcccagctgg cttctggccc ctgcttcacg
     1561 cccccagcgc cgccgcccct tcctgagtgg agatgaggat cccaaggctt ccacgctacg
     1621 tgttgtggtc tttggctccg atcggatttc agggaaggtg gctcgggcgt acagcaacct
     1681 tcggcggctg gagaacaatc gcccactcct cacacggttc ttcaaacttc agttcttcta
     1741 cgtgcctgtg aagcgaagtc atgggaccag ccctggtgcc tgtccacccc ctcggagcca
     1801 gacgccctca cccccgacag actcccctag gcacgccagc cctggagagc tgggcaccac
     1861 cccatgggag gagagcacca atgacatctc ccactacctc ggcatgctgg acccctggta
     1921 tgagcgcaat gtactgggcc tcatgcacct gccccctgaa gtcctgtgcc agcagtccct
     1981 gaaggctgaa gcccaggccc tggagggctc cccaacccag ctgcccatcc tggctgacat
     2041 gctactctac tactgccgct ttgccgccag accggtgctg ctgcaactct atcagaccga
     2101 gctgaccttc atcactgggg agaagacgac agagatcttc atccactcct tggagctggg
     2161 tcactccgct gccacacgtg ccatcaaggc gtcaggtcct ggcagcaagc ggctgggcat
     2221 cgatggcgac cgggaggctg ttcctctaac actacagatt atttacagca agggggccat
     2281 cagtggacga agtcgctgga gcaacctgga gaaggtctgt acctccgtga acctcaacaa
     2341 ggcctgccgg aagcaggagg agctggattc cagcatggag gccctgacgc taaacctgac
     2401 agaagtggtg aaaaggcaga actccaaatc caagaagggc tttaaccaga ttagcacatc
     2461 gcagatcaaa gtggacaagg tgcagatcat cggctccaac agctgcccct ttgctgtgtg
     2521 cctggaccag gatgagagaa agatcctgca gagtgtagtc agatgtgagg tctcaccgtg
     2581 ctacaagcca gagaagagcg acctctcctc accaccccag acgcctcctg acctgccggc
     2641 ccaggccgca cctgatctct gctcccttct ctgcctgccc atcatgactt tcagtggagc
     2701 tctgccctag tgtgggccca gcgccagact ggacagaagc cctggggcaa cctcctcggc
     2761 cacccctcca ggacagtccc tctctgtgga gaactgaatg gccctgtgca gagccatagt
     2821 cccactgtgg gtcctgcaat gagcaggggc tgggagtaga gggtttctgg ggcctcaggg
     2881 ttctgggaaa gcaacagcta tcagagagag aagggccaga ccccatagcc tcttagattc
     2941 ctggcagtag aaggagaagg atgggtaaat tgacctctga agtccctgac cattagcatg
     3001 gtctaggatc ctttctagaa ggaagatctg aggctctggt gctcaggggg atggcttggg
     3061 ccttttctct caaccttggc tgagcctacc ccttactttg ccaaagactt gaggaccctg
     3121 tatgtctgga gttcagtccc ctcctctgtg gggctcaggt gattgaaatg tggatgaaac
     3181 atttctctac ttcaagacca cctctccctg caaacaccac acacacatgg catgcatgta
     3241 cgcacatgcg caccg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  




&&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_017805. Homo sapiens hypo...[gi:8923375] Links  


LOCUS       FLJ20401                1457 bp    mRNA    linear   PRI 10-DEC-2001
DEFINITION  Homo sapiens hypothetical protein FLJ20401 (FLJ20401), mRNA.
ACCESSION   NM_017805
VERSION     NM_017805.1  GI:8923375
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Watanabe,K., Kumagai,A., Itakura,S., Yamazaki,M., Tashiro,H.,
            Ota,T., Suzuki,Y., Obayashi,M., Nishi,T., Shibahara,T., Tanaka,T.,
            Nakamura,Y., Isogai,T. and Sugano,S.
  TITLE     NEDO human cDNA sequencing project
  JOURNAL   Unpublished (2000)
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AK000408.1.
FEATURES             Location/Qualifiers
     source          1..1457
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
                     /clone="KAT00901"
                     /cell_line="KATO III"
                     /cell_type="signet-ring cell carcinoma"
                     /clone_lib="KAT"
                     /note="cloning vector pME18SFL3"
     gene            1..1457
                     /gene="FLJ20401"
                     /db_xref="LocusID:54922"
     variation       complement(113)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2287922"
     CDS             251..1204
                     /gene="FLJ20401"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="hypothetical protein FLJ20401"
                     /protein_id="NP_060275.1"
                     /db_xref="GI:8923376"
                     /db_xref="LocusID:54922"
                     /translation="MLWMANTTELLSFVQEKVLEMEKEADQEDPQLCNDLELCDEAMA
                     LLDEVIMCTFQQSVYYLTKTLYSTLPALLDSNPFTAGAELPGPGAELGAMPPGLRPTL
                     GVFQAALELTSQCELHPDLVSQTFGYLFFFSNASLLNSLMERGQGRPFYQWSRAVQIR
                     TNLDLVLDWLQGAGLGDIATEFFRKLSMAVNLLCVPRTSLLKASWSSLRTDHPTLTPA
                     QLHHLLSHYQLGPGRGPPAAWDPPPAEREAVDTGDIFESFSSHPPLILPLGSSRLRLT
                     GPVTDDALHRELRRLRRLLWDLEQQELPANYRHGPPVATSP"
     misc_feature    620..934
                     /gene="FLJ20401"
                     /note="DIL; Region: DIL domain. The DIL domain has no
                     known function"
                     /db_xref="CDD:pfam01843"
BASE COUNT      306 a    446 c    416 g    289 t
ORIGIN      
        1 agccgccggc tcgggagacc tgccgcccct cgggcccgcc acgctgctgg cgctgtgcgt
       61 gcagcattcc gcccgtgagc tggagctggg ccacctgcca cgactgctgg gccgcctggc
      121 ccggctcatc aaggaggccg tctgggaaaa gattaaggaa attggagacc gtcagccaga
      181 aaaccaccct gagggggtcc ccgaggtgcc cctgactcct gaagctgtgt ctgtggagct
      241 gcggccactc atgctgtgga tggccaacac cacggagctg cttagctttg tgcaggagaa
      301 ggtgctggaa atggagaagg aggctgacca agaggaccca cagctctgca atgacttgga
      361 attatgtgat gaggccatgg ccctcctgga tgaggtcatc atgtgtacct tccagcagtc
      421 tgtctactac ctcaccaaga ctctctattc aacgctgcct gctctcctgg atagtaaccc
      481 tttcacagct ggtgcagagc tgccggggcc tggcgcggag ctgggggcca tgcctccagg
      541 attgagacct accctgggcg tgttccaggc agccttggag ctgaccagcc agtgcgagct
      601 gcaccctgac ctcgtgtctc agacttttgg ctacttgttc ttcttctcca acgcatccct
      661 tctcaactcg ctgatggaac gaggtcaagg ccggcctttc tatcaatggt cccgagctgt
      721 tcaaatccga accaacctgg acctcgtctt ggactggcta cagggagctg ggctgggcga
      781 cattgccact gagttcttcc ggaaactctc catggctgtg aacctgctct gtgtgccccg
      841 cacttccctg ctcaaggctt catggagcag cctaagaacc gaccacccca ccttgacccc
      901 cgcccagctg caccatctgc tcagccacta tcagctgggc cctggccgcg ggccgccagc
      961 cgcgtgggac cctccccctg cagagcggga ggctgtggac acaggggaca tcttcgaaag
     1021 cttctcctcg cacccgcccc tcatcctccc cctggggagc tcgcgcctgc gcctcactgg
     1081 tccagtgacg gacgatgcct tgcaccgtga actccgtagg ctccgccgcc tcctctggga
     1141 tcttgagcag caggagctgc cagccaatta tcgccatggg cctcccgtgg ccacgtctcc
     1201 ttgagaacca ataccaaacg agcgcgcgaa ccttgaaatg tcacgggctt ctacggacag
     1261 gagcccgcct gagcgcaaag ctttctggga gttgtagttc ttatcccgcg tggaatgttg
     1321 ggagattgag ttttcgggaa gtagcggatg ggacggtggg agcatgggct taggatgtga
     1381 atgccaggga gcaataaagg tatccgtggt atcggcaaaa aaaaaaaaaa aaaaaaaaaa
     1441 aaaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_014864. Homo sapiens KIAA...[gi:7662149] Links  


LOCUS       KIAA0475                5983 bp    mRNA    linear   PRI 02-NOV-2000
DEFINITION  Homo sapiens KIAA0475 gene product (KIAA0475), mRNA.
ACCESSION   NM_014864
VERSION     NM_014864.1  GI:7662149
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Seki,N., Ohira,M., Nagase,T., Ishikawa,K., Miyajima,N.,
            Nakajima,D., Nomura,N. and Ohara,O.
  TITLE     Characterization of cDNA clones in size-fractionated cDNA libraries
            from human brain
  JOURNAL   DNA Res. 4 (5), 345-349 (1997)
  MEDLINE   98116662
   PUBMED   9455484
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AB007944.1.
FEATURES             Location/Qualifiers
     source          1..5983
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1"
                     /clone="HH0451"
                     /sex="male"
                     /tissue_type="brain"
                     /clone_lib="pBluescriptII SK plus"
     gene            1..5983
                     /gene="KIAA0475"
                     /db_xref="LocusID:9917"
     CDS             337..1566
                     /gene="KIAA0475"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="KIAA0475 gene product"
                     /protein_id="NP_055679.1"
                     /db_xref="GI:7662150"
                     /db_xref="LocusID:9917"
                     /translation="MKLKQRVVLLAILLVIFIFTKVFLIDNLDTSAANREDQRAFHRM
                     MTGLRVELAPKLDHTLQSPWEIAAQWVVPREVYPEETPELGAVMHAMATKKIIKADVG
                     YKGTQLKALLILEGGQKVVFKPKRYSRDHVVEGEPYAGYDRHNAEVAAFHLDRILGFH
                     RAPLVVGRFVNLRTEIKPVATEQLLSTFLTVGNNTCFYGKCYYCRETEPACADGDIME
                     GSVTLWLPDVWPLQKHRHPWGRTYREGKLARWEYDESYCDAVKKTSPYDSGPRLLDII
                     DTAVFDYLIGNADRHHYESFQDDEGASMLILLDNAKSFGNPSLDERSILAPLYQCCII
                     RVSTWNRLNYLKNGVLKSALKSAMAHDPISPVLSDPHLDAVDQRLLSVLATVKQCTDQ
                     FGMDTVLVEDRMPLSHL"
     variation       complement(1685)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2025584"
     variation       complement(1685)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3766627"
     variation       complement(3825)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3766626"
     variation       complement(3839)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3766625"
     variation       4588
                     /gene="KIAA0475"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2018786"
     variation       complement(5291)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2147768"
     variation       5759
                     /gene="KIAA0475"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:9249"
     variation       complement(5759)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3766624"
     variation       5786
                     /gene="KIAA0475"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1220"
     variation       complement(5786)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3820162"
     variation       5838
                     /gene="KIAA0475"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:15325"
BASE COUNT     1690 a   1227 c   1404 g   1662 t
ORIGIN      
        1 gtgtgggact gccgctctgc gcggcgagag gtggcctggg aatggccggg ccgggggtgg
       61 gccggagccg ctgtggcggc ggcggcggct gggggcggtg agcgcggcgt ggggctgccc
      121 ctccccggag gcggcggggg cggccggggc cgcgccgcac cgcaccgcgc gggcggccat
      181 ggagcgagcc tagggcccga caggaactgt ggaaggtgca tcagtgaaga aatggaccaa
      241 tgtgtataat catggaatct ccttgctaac catcaccacc agctctcctt aatacatgag
      301 caagagtggg tcaggggaga aggaaaagag gtcaacatga agctaaagca gcgagtcgtg
      361 ctgttagcaa ttctccttgt catttttatc ttcaccaaag ttttcctgat tgacaactta
      421 gatacatcag ctgccaaccg ggaggaccag agggcctttc accgaatgat gactggcttg
      481 cgggtggagc tggcacccaa gctggaccat accttgcagt ctccctggga gattgcagcc
      541 cagtgggtgg ttccccggga agtgtaccct gaagagacac cagagctggg ggcagtcatg
      601 catgccatgg ccaccaagaa aatcattaaa gctgatgtgg gttataaagg gacacagctg
      661 aaagccttac tgatacttga aggaggccag aaagttgttt tcaaacctaa gcggtatagc
      721 cgagaccatg tggtggaagg ggaaccgtat gctggttatg atagacacaa tgcagaggta
      781 gcagcctttc acttggacag gattctgggt ttccaccgag cccccttggt agttggcaga
      841 tttgttaatc ttcggacaga gatcaaacct gtcgccacag agcagctgtt gagcaccttc
      901 ctaactgtag gaaacaatac ttgtttttat gggaagtgct attactgccg agaaacagaa
      961 ccagcttgtg ctgatggaga cataatggag ggatctgtca cactttggct tccagatgtg
     1021 tggcctctgc agaagcaccg tcacccatgg ggcaggactt accgagaagg caaattggcc
     1081 aggtgggagt atgatgagag ctactgtgat gctgtgaaga aaacgtcccc ttatgactct
     1141 ggcccgcgcc tcttggacat cattgacaca gctgtctttg attacctgat tggcaatgct
     1201 gaccgccatc actatgagag ctttcaagat gatgaaggcg ctagtatgct catccttctt
     1261 gataatgcca aaagctttgg gaacccctcg ctggatgaaa gaagcattct tgcccctctc
     1321 tatcagtgtt gcatcattcg ggtgtccacc tggaacagac tgaactacct aaagaatggt
     1381 gtgctaaagt ctgccttaaa atctgccatg gcccatgacc ccatctcccc agtgctctct
     1441 gatcctcatc tggacgccgt ggaccagcgg ctcctgagtg tcctggccac cgtgaagcag
     1501 tgcaccgacc agtttgggat ggacacagta ctggtggaag acaggatgcc tctctcacac
     1561 ttgtaattct cgacacaaaa taagtgaaac ttctttttac aaagatagag aaacagcaca
     1621 atcaattcca aatggtatga gatggattgg aagtggccag cagcaagttc tggtgacagg
     1681 acagggtggc cttggatgtc tttggtattt tctgtagtag aaactaaagc aaagaccaca
     1741 agtttcagag catggagaca ttcctgctga atcgccttct cacctcctcg gcaattgctc
     1801 attctagggt tgggcatcat agttggtcag tcttaattcc catgccaaag gacaaacagg
     1861 tgtgacattt ggatagatga atactgggat tggctctgga gcatgtgttt tgagttgaac
     1921 cttgcagtcc tttctctacg cccgtggatt ttgtggaaac actttgcaat ctctttgtct
     1981 tttttttttt accagaacta gttacattgg aatgcttact gtcctacaga gtggcagcaa
     2041 ataaaacctt gcattccatc aagccaaaat agcacactct gttagaggag atacatgttt
     2101 aagatagaat tggagggaag gacaaaaaca gaaaaatgtt tgggctttta agccattggg
     2161 tagtattgtt ttgatgatct tagaggaggg aagaagagag agagacccaa tggtagaacc
     2221 agaatcaggg agatgactga actactgaaa aacaggttcc cttgtattta ggatcttaag
     2281 gtgtataaaa agcaaacatg actttgcacc taagtaaatt ctgcattctc atagttgtgt
     2341 cccaattaac caaaaagttg tctctagaga aaataatatt acaatctaag catgattctc
     2401 tgtggagact aattttttcc ccttttgcca aaagcagtcc ttcccaaatt aacaaagcaa
     2461 actgaaataa taccttgaat aacaggttgc ctgtggtctc tgtcatcctc gtctctcttc
     2521 tgaaatgaat ttccacctct gcctttaagg catttttgtc actgaagctg ctgttcccaa
     2581 gagataggca acctttttgt ccctttctca taagaaaggg acactcctac aggtgagagt
     2641 gtatacctta ctctctcaga taagtggctg gacttatctt gtgatttggg gccatggaag
     2701 attggaaaca aagattttaa gccttcttct tttttgcttt tttctttttt ttttgagacc
     2761 aagtctcact ctgttgccca ggctggagtg cagtggcacg atcttggctc actgcaacct
     2821 ccgtctccca ggttcaagcg attctcttgc ctcagcctcc agagtagctg ggattacagg
     2881 cgcccgccat cgtgcccagc taatttttat atttttagtg gagacagggt ttcgggtttc
     2941 accatgttgg ccaggttgat cttggactcc tgaccccagg tgatccacct gcctcagcct
     3001 tccaaagtgc tgggattaca ggcatgagcc accgtggccg gccaagattt taagccttct
     3061 gagccttgaa attgaggagg ttaaaaggaa gagccttaag attttgattt atgtcaaatc
     3121 ctaattctat cattcagtct tgtttggagt tctgaaccca tgatgttgta ttatgcttct
     3181 ttctcctctt agcactctca aatttcaggt ttgtaaaaca cagtttttgt tttgtgttct
     3241 ggcaaagtga tctcaacatg taagtagttg cagtaaaaca caggggcaaa ggaagacagg
     3301 cctgatgtgc ccactcatct atggactcag agctgtgtgc tttgctcctg catcttgttg
     3361 aggtgctgtt ccagctttgc atttctgtca agtagaggcg aatatataaa cagtgtggtt
     3421 gaatacattt aatgccagcc attggaaact agttttaggc aaccactctc aaaaacagct
     3481 ttagaattta tgcccagttt tcttgcattg aaagataact gagtaataac ctgtaactat
     3541 ttttaaatgg catgaaatta ggaaactttt gtacatttta tatacatttt gagatgaaca
     3601 gaacaatggg ctgagttata aaaagcgtgt attgaattta agaagacaga ctagcacaaa
     3661 acacagaatt cgtgttaacc aaaggaggca ttgatttcag ttttaaggct actcagtgtt
     3721 gtgtgtccag ggaaattcac agctcagtat gagaatacct tggttagtgc tcacccacaa
     3781 gcttccagga gccagctggg aggagacaat aggaagagat gtcagctctg ctctccctgt
     3841 aaatgttagt tgaactaagt tatggatttg tggtctttca aatacatgac gcctttagta
     3901 tgccacactg aaatgaataa gaagtcttct gaaactggga acttcataac attgaaggca
     3961 gaagattctg ctaaggaaaa aagcaggcag gaaagaaaat gtctcatcct ttcttgaaag
     4021 catttgcaga aaatatatca tttcatttta ttcccatctg ttttcaaact cgtgatctta
     4081 aaaggcattc tgatgataaa tttagaattt tcatctataa aatttagaac tctaatccat
     4141 aaagttagaa ttgagctaat agagtggtat gacatggcac taaaaatata aatttttgtt
     4201 gtaagtcagg attggagtaa gctggaaaag tatgtttagg caaatcttgg agaaaaccaa
     4261 ccataaactt acagctctaa aattcagaaa gccctaaaat ttcaaacact gtttgaaaga
     4321 agaggtgggg gccgggtgcc gtggctcatg cctgtcatcc cagcatttgg gaggctgagg
     4381 caggcagatc acctgaggcc aggagttcga gaccagcctg gctggctagc atggtgagac
     4441 cgtctctact aaaaatgcaa aaattaacag ggcacggtgg catgcgcctg tagtcccagc
     4501 tactcgggag gctgaggcag gagaatcact tgaatccagg aggcgaaggt tgcagtgagc
     4561 tgagattgtg ctgctgcact ccagcctggg agacagagcg agactctgtc ttaaaaaaaa
     4621 aaaaaggagg tgaatttttt tttaagtttt gtaacactgt cctactttat ttattagaat
     4681 ctaaggctgt tacaatcaag tcgttgcagg gtttggatca gctgtaagtt aggtatgcct
     4741 accaaacatc caaaggtaga cgtggagaca ttttaatact acaaaactag gaaaatcaga
     4801 actcatggcc atttcctgcc ctcctccaac ttgttaaaac atgtttattc taaagttcga
     4861 atggataaat ttgagtataa aggttttgtt ataaaactgt tctttagtgt aaggctgcat
     4921 tgtgggtttg ggggaaatgt aaataatttt ctgtgtaaaa caaattcata ggatctgatt
     4981 tgctcagagt attattcaag aatgtattaa taaggcattg ccccctgttt gcactcaggg
     5041 ttaatatgtc aaatgaaatt taagaaggaa atggaagaat tcaggtacat taattgcata
     5101 ttattttggg aaagatgagt cctatacgtg gcaatttttc aatgtcatct gaagccagca
     5161 ttatcttcca aagaaatcga tctttttttt ctaaaaaaaa aaaatgcttt tgccttccct
     5221 tcccttccca tccgccatat ttcttcagcc tttcttctcg atcacccgtg tattctttga
     5281 ccagtaaatg accacacctc aatgatggta aaacagcatc atcagtaagc tatcttatat
     5341 gcctcatcct gtgagtttga gcttcaggaa acatgagtaa aagtatatgt aatgtatata
     5401 gtcgtatatg tattctagca agaaaaacat atttattttg acaaagggga acactgactt
     5461 tctgaaggat tcagaaagaa ccttagtgaa aggttctcag tctctgagag tggaccctaa
     5521 ttaacataaa gaccattcat cagcgaataa ctactgagca actctagtgt gccagcacag
     5581 gccagacata ctagtgagcc aggcacatct ggccttggga aactcatcct acaggggaag
     5641 gccagttttt ttcccttcaa ttcctcaagt ctgggtggtg acaaggtagg ggctaggtac
     5701 tggactacca caggttttta ggaactaagg tgtttctcat aaacacaaaa tgttgggtga
     5761 aactgggaac aactactcag aagctcattt atttgcttaa atggaaagtg tgggagccac
     5821 taccctctct tttgatctgc caaggatttc ctctcagagc tgttgcacag acagagattg
     5881 tacttggtaa gataccaaac aagacagata tggatctaaa tttctaatgt gttctatggg
     5941 tttcaattct gaaaaaagaa aatgaataaa gattttaata aat
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_022837. Homo sapiens hypo...[gi:12383083] Links  


LOCUS       FLJ22833                3032 bp    mRNA    linear   PRI 23-JAN-2001
DEFINITION  Homo sapiens hypothetical protein FLJ22833 (FLJ22833), mRNA.
ACCESSION   NM_022837
VERSION     NM_022837.1  GI:12383083
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Kawakami,T., Noguchi,S., Itoh,T., Shigeta,K., Senba,T.,
            Matsumura,K., Nakajima,Y., Mizuno,T., Morinaga,M., Tanigami,A.,
            Fujiwara,T., Ono,T., Yamada,K., Fujii,Y., Ozaki,K., Hirao,M.,
            Ohmori,Y., Ota,T., Suzuki,Y., Obayashi,M., Nishi,T., Shibahara,T.,
            Tanaka,T., Nakamura,Y., Isogai,T. and Sugano,S.
  TITLE     NEDO human cDNA sequencing project
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AK026486.1.
FEATURES             Location/Qualifiers
     source          1..3032
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /clone="KAIA4266"
                     /tissue_type="ileal mucosa"
                     /clone_lib="kaia"
                     /note="cloning vector pME18SFL3"
     gene            1..3032
                     /gene="FLJ22833"
                     /note="FLJ13624"
                     /db_xref="LocusID:64859"
     variation       359
                     /gene="FLJ22833"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1133214"
     variation       362
                     /gene="FLJ22833"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3194744"
     variation       388
                     /gene="FLJ22833"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3209207"
     CDS             480..884
                     /gene="FLJ22833"
                     /codon_start=1
                     /product="hypothetical protein FLJ22833"
                     /protein_id="NP_073748.1"
                     /db_xref="GI:12383084"
                     /db_xref="LocusID:64859"
                     /translation="MNRVNDPLIFIRDIKPGLKNLNVVFIVLEIGRVTKTKDGHEVRS
                     CKVADKTGSITISVWDEIGGLIQPGDIIRLTRGYASMWKGCLTLYTGRGGELQKIGDL
                     GAVQAAAMRDSIHYYPGNDLHPDLEEPSSLGV"
BASE COUNT      882 a    546 c    644 g    960 t
ORIGIN      
        1 agtcgctgtt tgggacgctg ggtgtgcggt gttctgtctc cgctcccgtt tcgctgtcac
       61 agcccgttcc ttcccggagc ccgggacagg ctgggcgcgc gcccgtgtga gtgagcggga
      121 ctcagggcag aagtgtcccc tcactgcgtt tttttttcct tttatccaaa gaacggggca
      181 gttagtacgc ttgccttcct gtcgcccggt tgggagcggg gttggtgtgc ggagtggttc
      241 gccttttttt ctttagaact tgtgagcctt tttttttttt tttttttctt tccttttttt
      301 aggctcagtg ctgtccgggc tggtttgccc ggtccctgac taacggcttt ctgccccttc
      361 tctcgccacc cctgcccaag gtcgcccctc tgccttcgcc cctgtcccgg gagggtggga
      421 agctttgacc ccgccctgcc cactcgcgtc tccgcagccg tagccgcgcc tgtcccaata
      481 tgaatagggt caacgaccca cttattttta taagagatat taagcccgga ctgaaaaact
      541 taaatgtcgt ctttattgtc ctggagatag gacgcgtgac caaaaccaaa gacggccatg
      601 aagtgagatc gtgcaaagta gcagataaaa cgggcagcat cactatttcc gtgtgggatg
      661 agatcggagg tcttatacag ccaggggata ttattcggtt gaccagaggg tatgcatcca
      721 tgtggaaagg atgtctgaca ctttatactg gaaggggtgg tgaacttcaa aaaattgggg
      781 atctaggtgc ggtgcaggca gccgcaatgc gagattccat acactactac cctggtaatg
      841 atctccaccc tgacctggag gagccatcct ctctaggggt gtaagatttt gtatggttta
      901 ttcagaagtg ccaaatttca gtgaacccaa cccagattat cgaggacagc agaacaaagg
      961 ggcacagagt gaacagaaga ataattccat gaatagtaat atgggtacag gtacatttgg
     1021 accagtggga aatggtgttc acactggccc tgaatcaagg gaacaccagt tttcacatgc
     1081 tggcagaagc aatggccggg gacttataaa tccacaacta caaggaacag ctagtaatca
     1141 aacagtgatg accacaataa gtaatggcag ggaccctcgg agagccttta aaagatgacc
     1201 tatgctaaat actcatgtgt agtttttata ctacatgccc tacttgaaca cttattgcac
     1261 ttttatttat tgttaactgt gaaaagtacg tcctttattg ggtttccttt tatattcttg
     1321 gtttgttaag aagaatggtt tgtttttata gcaaaactgt taagctgctc gagtctcctg
     1381 ttgaagaatg ggaacactga aaagtagggg catttatttt tagagtaaaa agattattgg
     1441 atagccttta aaaaacctgc acccatttca tgggtgagtt acttaagaca tcagctttat
     1501 agcctctatg agtctatctt ctgtataagt tttgtaatat ttaacataag gcttaatggg
     1561 agatgttctt ttgtcttgta ttcagatatt gccaactaaa gcaataacca tcaaaaaaca
     1621 caagaacttg tcaatgctag cagtaatttt tgagtgtttg tggctctcgg aatgattgac
     1681 ttcgttcagt gactactatt aagattttcc aaggactgac tcatcccaaa tttttgttgt
     1741 attaccaaaa aaacagattc cttatcagaa tttggaatag aatgtgatct ctattgcaac
     1801 aagtaatttt aaaagaaagc tacatttatt ttagagtagt gctcctaaca tgtattatca
     1861 actttgtgga ttacattgga ggaaaattta aaactggggc cttgaatatt tattttttga
     1921 aactaccatg ttaaatactg aagtataatt tgggggagtt ataaagttat gataaacatt
     1981 catctgatta ttttaaacaa tagttgtggt agataaacat actggaggtg agtaaaattg
     2041 aattcatata gtaacatgca gtctgaagtc ctagttactt aataggtact cagcctggag
     2101 tgaaaatcct gggtactgac tttgagagga gtgagtgtgc atgttgtcaa agtttctgaa
     2161 cacagttcac atagccttat tagcaaaagt tttaagaaat ggctctatca aagaagcaat
     2221 tgcagcttta ttcagaaata taaaagtgga atttatgtac atgtcataag tggtacccac
     2281 ttcccctttt tactgtaggg tggataactc ttaggattta actctttgaa tattatctct
     2341 tgaataaagc atgtgttaat gttaacaaac ctacgtaatt tttgcccttt caatgactta
     2401 cagtggagag ccagtacatc ttaactactg ttgtagtgat ggtatcaacc tcatggttac
     2461 ttagctctgc atttgttgct ttgttttttt tccacttcaa atcacaaaat aagtagattt
     2521 tgttttctga aaactccata gcatttgaat acaaaaagtt gtgccagatt gtttgcccta
     2581 attcactgtg tttaacaaat atttcagtac acactatgta ttaggcactg tgtggaaagt
     2641 gttaaggggt agacaagata ccgaataatc tccacaagtt tatttgtggt ctatagtact
     2701 tttgtaactg gggttacaaa aattatagaa atttttttcc tttgttcata tgcatattca
     2761 tgattataat ttggctttgt ttgtgattaa tgttttctta agattttcac attatagaat
     2821 acctcaaaag aagttgtcta aggactggga tagagagtat gtttcataaa attgtagatg
     2881 tttagaattt ttaaaaaccc tacaaattag tatatgattg ttttatataa gtaagatagg
     2941 agcaacactt taaattattt gtgggagaat acagcattaa aggtgatttt aaaagaaaaa
     3001 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  




&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_016619. Homo sapiens plac...[gi:7706157] Links  


LOCUS       PLAC8                    760 bp    mRNA    linear   PRI 18-OCT-2002
DEFINITION  Homo sapiens placenta-specific 8 (PLAC8), mRNA.
ACCESSION   NM_016619
VERSION     NM_016619.1  GI:7706157
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 760)
  AUTHORS   Zhao,M., Song,H., Li,N., Peng,Y., Han,Z. and Chen,Z.
  TITLE     A novel gene expressed in human bone marrow
  JOURNAL   Unpublished
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AF208846.1.
FEATURES             Location/Qualifiers
     source          1..760
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.22"
                     /tissue_type="bone marrow"
     gene            1..760
                     /gene="PLAC8"
                     /db_xref="LocusID:51316"
     CDS             102..449
                     /gene="PLAC8"
                     /note="hypothetical protein LOC51316"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="placenta-specific 8"
                     /protein_id="NP_057703.1"
                     /db_xref="GI:7706158"
                     /db_xref="LocusID:51316"
                     /translation="MQAQAPVVVVTQPGVGPGPAPQNSNWQTGMCDCFSDCGVCLCGT
                     FCFPCLGCQVAADMNECCLCGTSVAMRTLYRTRYGIPGSICDDYMATLCCPHCTLCQI
                     KRDINRRRAMRTF"
BASE COUNT      221 a    161 c    151 g    227 t
ORIGIN      
        1 gagttttcat ttgtggtgag attctctccc aggccacaag acatttcctg ctcggaacct
       61 tgtttactaa tttccactgc ttttaaggcc ctgcactgaa aatgcaagct caggcgccgg
      121 tggtcgttgt gacccaacct ggagtcggtc ccggtccggc cccccagaac tccaactggc
      181 agacaggcat gtgtgactgt ttcagcgact gcggagtctg tctctgtggc acattttgtt
      241 tcccgtgcct tgggtgtcaa gttgcagctg atatgaatga atgctgtctg tgtggaacaa
      301 gcgtcgcaat gaggactctc tacaggaccc gatatggcat ccctggatct atttgtgatg
      361 actatatggc aactctttgc tgtcctcatt gtactctttg ccaaatcaag agagatatca
      421 acagaaggag agccatgcgt actttctaaa aactgatggt gaaaagctct taccgaagca
      481 acaaaattca gcagacacct cttcagcttg agttcttcac catcttttgc aactgaaata
      541 tgatggatat gcttaagtac aactgatggc atgaaaaaaa tcaaattttt gatttattat
      601 aaatgaatgt tgtccctgaa cttagctaaa tggtgcaact tagtttctcc ttgctttcat
      661 attatcgaat ttcctggctt ataaactttt taaattacat ttgaaatata aaccaaatga
      721 aatattttaa ctgataaaaa aaaaaaaaaa aaataaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  



&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_007268. Homo sapiens Ig s...[gi:6005957] Links  


LOCUS       Z39IG                   1787 bp    mRNA    linear   PRI 14-AUG-2001
DEFINITION  Homo sapiens Ig superfamily protein (Z39IG), mRNA.
ACCESSION   NM_007268
VERSION     NM_007268.1  GI:6005957
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1787)
  AUTHORS   Langnaese,K., Colleaux,L., Kloos,D.U., Fontes,M. and Wieacker,P.
  TITLE     Cloning of Z39Ig, a novel gene with immunoglobulin-like domains
            located on human chromosome X
  JOURNAL   Biochim. Biophys. Acta 1492 (2-3), 522-525 (2000)
  MEDLINE   20461865
   PUBMED   11004523
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AJ132502.1.
FEATURES             Location/Qualifiers
     source          1..1787
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq12-q13.3"
                     /clone_lib="Human fetal brain Lambda cDNA library
                     (Stratagene #937227)"
     gene            1..1787
                     /gene="Z39IG"
                     /db_xref="LocusID:11326"
                     /db_xref="MIM:300353"
     CDS             46..1245
                     /gene="Z39IG"
                     /codon_start=1
                     /product="Ig superfamily protein"
                     /protein_id="NP_009199.1"
                     /db_xref="GI:6005958"
                     /db_xref="LocusID:11326"
                     /db_xref="MIM:300353"
                     /translation="MGILLGLLLLGHLTVDTYGRPILEVPESVTGPWKGDVNLPCTYD
                     PLQGYTQVLVKWLVQRGSDPVTIFLRDSSGDHIQQAKYQGRLHVSHKVPGDVSLQLST
                     LEMDDRSHYTCEVTWQTPDGNQVVRDKITELRVQKLSVSKPTVTTGSGYGFTVPQGMR
                     ISLQCQARGSPPISYIWYKQQTNNQEPIKVATLSTLLFKPAVIADSGSYFCTAKGQVG
                     SEQHSDIVKFVVKDSSKLLKTKTEAPTTMTYPLKATSTVKQSWDWTTDMDGYLGETSA
                     GPGKSLPVFAIILIISLCCMVVFTMAYIMLCRKTSQQEHVYEAARAHAREANDSGETM
                     RVAIFASGCSSDEPTSQNLGNNYSDEPCIGQEYQIIAQINGNYARLLDTVPLDYEFLA
                     TEGKSVC"
     sig_peptide     46..102
                     /gene="Z39IG"
     mat_peptide     103..1242
                     /gene="Z39IG"
                     /product="Ig superfamily protein"
     misc_feature    151..390
                     /gene="Z39IG"
                     /note="IGv; Region: Immunoglobulin V-Type"
                     /db_xref="CDD:smart00406"
     misc_feature    505..708
                     /gene="Z39IG"
                     /note="IG; Region: Immunoglobulin"
                     /db_xref="CDD:smart00409"
     misc_feature    514..699
                     /gene="Z39IG"
                     /note="IGc2; Region: Immunoglobulin C-2 Type"
                     /db_xref="CDD:smart00408"
     variation       1624
                     /gene="Z39IG"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1044165"
     variation       complement(1707)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:13686"
     polyA_signal    1746..1751
                     /gene="Z39IG"
BASE COUNT      453 a    488 c    431 g    415 t
ORIGIN      
        1 ggtagcagga ggctggaaga aaggacagaa gtagctctgg ctgtgatggg gatcttactg
       61 ggcctgctac tcctggggca cctaacagtg gacacttatg gccgtcccat cctggaagtg
      121 ccagagagtg taacaggacc ttggaaaggg gatgtgaatc ttccctgcac ctatgacccc
      181 ctgcaaggct acacccaagt cttggtgaag tggctggtac aacgtggctc agaccctgtc
      241 accatctttc tacgtgactc ttctggagac catatccagc aggcaaagta ccagggccgc
      301 ctgcatgtga gccacaaggt tccaggagat gtatccctcc aattgagcac cctggagatg
      361 gatgaccgga gccactacac gtgtgaagtc acctggcaga ctcctgatgg caaccaagtc
      421 gtgagagata agattactga gctccgtgtc cagaaactct ctgtctccaa gcccacagtg
      481 acaactggca gcggttatgg cttcacggtg ccccagggaa tgaggattag ccttcaatgc
      541 caggctcggg gttctcctcc catcagttat atttggtata agcaacagac taataaccag
      601 gaacccatca aagtagcaac cctaagtacc ttactcttca agcctgcggt gatagccgac
      661 tcaggctcct atttctgcac tgccaagggc caggttggct ctgagcagca cagcgacatt
      721 gtgaagtttg tggtcaaaga ctcctcaaag ctactcaaga ccaagactga ggcacctaca
      781 accatgacat accccttgaa agcaacatct acagtgaagc agtcctggga ctggaccact
      841 gacatggatg gctaccttgg agagaccagt gctgggccag gaaagagcct gcctgtcttt
      901 gccatcatcc tcatcatctc cttgtgctgt atggtggttt ttaccatggc ctatatcatg
      961 ctctgtcgga agacatccca acaagagcat gtctacgaag cagccagggc acatgccaga
     1021 gaggccaacg actctggaga aaccatgagg gtggccatct tcgcaagtgg ctgctccagt
     1081 gatgagccaa cttcccagaa tctgggcaac aactactctg atgagccctg cataggacag
     1141 gagtaccaga tcatcgccca gatcaatggc aactacgccc gcctgctgga cacagttcct
     1201 ctggattatg agtttctggc cactgagggc aaaagtgtct gttaaaaatg ccccattagg
     1261 ccaggatctg ctgacataat tgcctagtca gtccttgcct tctgcatggc cttcttccct
     1321 gctacctctc ttcctggata gcccaaagtg tccgcctacc aacactggag ccgctgggag
     1381 tcactggctt tgccctggaa tttgccagat gcatctcaag taagccagct gctggatttg
     1441 gctctgggcc cttctagtat ctctgccggg ggcttctggt actcctctct aaataccaga
     1501 gggaagatgc ccatagcact aggacttggt catcatgcct acagacacta ttcaactttg
     1561 gcatcttgcc accagaagac ccgagggagg ctcagctctg ccagctcaga ggaccagcta
     1621 tatccaggat catttctctt tcttcagggc cagacagctt ttaattgaaa ttgttatttc
     1681 acaggccagg gttcagttct gctcctccac tataagtcta atgttctgac tctctcctgg
     1741 tgctcaataa atatctaatc ataacagcaa aaaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&






    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005133. Homo sapiens RCE1...[gi:4826975] Links  


LOCUS       RCE1                    1485 bp    mRNA    linear   PRI 20-DEC-2001
DEFINITION  Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae)
            (RCE1), mRNA.
ACCESSION   NM_005133
VERSION     NM_005133.1  GI:4826975
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1485)
  AUTHORS   Otto,J.C., Kim,E., Young,S.G. and Casey,P.J.
  TITLE     Cloning and characterization of a mammalian prenyl protein-specific
            protease
  JOURNAL   J. Biol. Chem. 274 (13), 8379-8382 (1999)
  MEDLINE   99185052
   PUBMED   10085068
REFERENCE   2  (bases 1 to 1485)
  AUTHORS   Freije,J.M., Blay,P., Pendas,A.M., Cadinanos,J., Crespo,P. and
            Lopez-Otin,C.
  TITLE     Identification and chromosomal location of two human genes encoding
            enzymes potentially involved in proteolytic maturation of
            farnesylated proteins
  JOURNAL   Genomics 58 (3), 270-280 (1999)
  MEDLINE   99303558
   PUBMED   10373325
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF121951.1.
            Summary: This gene encodes an integral membrane protein which is
            classified as a member of the metalloproteinase family.  This
            enzyme is thought to function in the maintenance and processing of
            CAAX-type prenylated proteins.
FEATURES             Location/Qualifiers
     source          1..1485
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13"
     gene            1..1485
                     /gene="RCE1"
                     /note="FACE-2; HRCE1; FACE2; RCE1B; RCE1A"
                     /db_xref="LocusID:9986"
                     /db_xref="MIM:605385"
     CDS             45..1034
                     /gene="RCE1"
                     /note="RCE1 (S. Cerevisiae) homolog, prenyl protein
                     protease; farnesylated protein-converting enzyme 2; prenyl
                     protein protease RCE1B"
                     /codon_start=1
                     /product="prenyl protein protease RCE1"
                     /protein_id="NP_005124.1"
                     /db_xref="GI:4826976"
                     /db_xref="LocusID:9986"
                     /db_xref="MIM:605385"
                     /translation="MAALGGDGLRLLSVSRPERPPESAALGGLGPGLCCWVSVFSCLS
                     LACSYVGSLYVWKSELPRDHPAVIKRRFTSVLVVSSLSPLCVLLWRELTGIQPGTSLL
                     TLMGFRLEGIFPAALLPLLLTMILFLGPLMQLSMDCPCDLADGLKVVLAPRSWARCLT
                     DMRWLRNQVIAPLTEELVFRACMLPMLAPCMGLGPAVFTCPLFFGVAHFHHIIEQLRF
                     RQSSVGNIFLSAAFQFSYTAVFGAYTAFLFIRTGHLIGPVLCHSFCNYMGFPAVCAAL
                     EHPQRRPLLAGYALGVGLFLLLLQPLTDPKLYGSLPLCVLLERAGDSEAPLCS"
     misc_feature    528..857
                     /gene="RCE1"
                     /note="Abi; Region: CAAX amino terminal protease family.
                     Members of this family are probably proteases. the family
                     contains CAAX prenyl protease. The proteins contain a
                     highly conserved Glu-Glu motif at the amino end of the
                     alignment. The alignment also contains two histidine
                     residues that may be involved in zinc binding. One member
                     however is an abortive infection protein"
                     /db_xref="CDD:pfam02517"
     polyA_signal    1443..1448
                     /gene="RCE1"
BASE COUNT      228 a    463 c    431 g    363 t
ORIGIN      
        1 tccctgggac tgcgtcactg gtgcgcgccg cgggtcaggg cgcaatggcg gcgctgggcg
       61 gggatgggct gcgactgctg tcggtgtcgc ggccggagcg gccgcccgag tcggcggcgc
      121 tgggcggcct gggccccggg ctgtgctgct gggtgtcagt gttctcctgc ctcagcctcg
      181 cctgctccta cgtgggcagc ctctacgtct ggaagagcga actgcccagg gaccatcccg
      241 cggtcatcaa gcgacgcttc accagcgtcc tggtggtgtc cagtctctca cccctgtgcg
      301 tgctgctctg gagggaactc acaggcatcc agccaggcac atccctgctc accctgatgg
      361 gcttcaggct ggagggcatt ttcccagcgg cgctgctgcc cctgttgctg accatgattc
      421 ttttcctggg cccactgatg cagctctcta tggattgccc ttgtgacctg gcagatgggc
      481 tgaaggttgt cctggccccc cgctcctggg cccgctgcct cacagacatg cgttggctgc
      541 ggaaccaagt gatcgccccg ctgacagagg agctggtgtt ccgggcctgt atgctgccca
      601 tgttagcacc gtgcatgggc ctgggccctg ctgtgttcac ctgcccgctc ttttttggag
      661 ttgcccattt tcaccatatt attgagcagc tgcgtttccg ccagagcagc gtggggaaca
      721 tcttcttgtc tgctgcgttc cagttctcct acacagctgt cttcggtgcc tacactgctt
      781 tcctcttcat ccgcacagga cacctgattg ggccggttct ctgccattcc ttctgcaatt
      841 acatgggttt cccagctgtt tgcgcggcct tggagcaccc acagaggcgg cccctgctgg
      901 caggctatgc cctgggtgtg ggactcttcc tgcttctgct ccagcccctc acggacccca
      961 agctctacgg cagccttccc ctttgtgtgc ttttggagcg ggcaggggac tcagaggctc
     1021 ccctgtgctc ctgacctatg ctcctgggat acgctatgaa ctctcaccgg ctccccaagc
     1081 cctccccacc aaggggtact gcaggggaag ggctggctgg ggtccccgaa gatctcagga
     1141 atttttgtag ggattgaagc cagagctagt tgcgtcccag ggaccaagag aaagaagcag
     1201 atatccaaag ggtgcagccc cttttgaaag gggtgtttac gagcagctgt gagtgagggg
     1261 acaaggggca ggtcccagga gccacacact cccttcctca ctttggactg ctgcttctct
     1321 tagctcctct gcctctgaaa agctgctcgg ggttttttat ttataaaacc tctccccacc
     1381 ccccaccccc caacttcctg ggttttctca ttgtcttttt gcatcagtac tttgtatggg
     1441 atattaaaga gatttaactt gggtaacatg gcttgggcct ttggg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  


&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_000393. Homo sapiens coll...[gi:16554580] Links  


LOCUS       COL5A2                  6217 bp    mRNA    linear   PRI 31-OCT-2001
DEFINITION  Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.
ACCESSION   NM_000393
VERSION     NM_000393.2  GI:16554580
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6217)
  AUTHORS   Myers,J.C., Loidl,H.R., Seyer,J.M. and Dion,A.S.
  TITLE     Complete primary structure of the human alpha 2 type V procollagen
            COOH-terminal propeptide
  JOURNAL   J. Biol. Chem. 260 (20), 11216-11222 (1985)
  MEDLINE   85289337
   PUBMED   2411731
REFERENCE   2  (bases 1 to 6217)
  AUTHORS   Weil,D., Bernard,M., Gargano,S. and Ramirez,F.
  TITLE     The pro alpha 2(V) collagen gene is evolutionarily related to the
            major fibrillar-forming collagens
  JOURNAL   Nucleic Acids Res. 15 (1), 181-198 (1987)
  MEDLINE   87146331
   PUBMED   3029669
REFERENCE   3  (bases 1 to 6217)
  AUTHORS   Woodbury,D., Benson-Chanda,V. and Ramirez,F.
  TITLE     Amino-terminal propeptide of human pro-alpha 2(V) collagen conforms
            to the structural criteria of a fibrillar procollagen molecule
  JOURNAL   J. Biol. Chem. 264 (5), 2735-2738 (1989)
  MEDLINE   89123368
   PUBMED   2914927
REFERENCE   4  (bases 1 to 6217)
  AUTHORS   Greenspan,D.S., Lee,S.T., Lee,B.S. and Hoffman,G.G.
  TITLE     Homology between alpha 2(V) and alpha 1(III) collagen promoters and
            evidence for negatively acting elements in the alpha 2(V) first
            intron and 5' flanking sequences
  JOURNAL   Gene Expr. 1 (1), 29-39 (1991)
  MEDLINE   92314691
   PUBMED   1820205
REFERENCE   5  (bases 1 to 6217)
  AUTHORS   Michalickova,K., Susic,M., Willing,M.C., Wenstrup,R.J. and
            Cole,W.G.
  TITLE     Mutations of the alpha2(V) chain of type V collagen impair matrix
            assembly and produce ehlers-danlos syndrome type I
  JOURNAL   Hum. Mol. Genet. 7 (2), 249-255 (1998)
  MEDLINE   98087576
   PUBMED   9425231
REFERENCE   6  (bases 1 to 6217)
  AUTHORS   Valkkila,M., Melkoniemi,M., Kvist,L., Kuivaniemi,H., Tromp,G. and
            Ala-Kokko,L.
  TITLE     Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2
            has evolved differently than the other minor fibrillar collagen
            genes
  JOURNAL   Matrix Biol. 20 (5-6), 357-366 (2001)
  MEDLINE   21451029
   PUBMED   11566270
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Y14690.1, BC015705.1 and
            M58529.1.
            On Oct 31, 2001 this sequence version replaced gi:4502958.
            Summary: This gene encodes an alpha chain for one of the low
            abundance fibrillar collagens. Fibrillar collagen molecules are
            trimers that can be composed of one or more types of alpha chains.
            Type V collagen is found in tissues containing type I collagen and
            appears to regulate the assembly of heterotypic fibers composed of
            both type I and type V collagen. This gene product is closely
            related to type XI collagen and it is possible that the collagen
            chains of types V and XI constitute a single collagen type with
            tissue-specific chain combinations. Mutations in this gene are
            associated with Ehlers-Danlos syndrome, types I and II. Two
            transcripts that differ in the length of the 3'UTR due to the use
            of alternative polyadenylation signals have been identified for
            this gene.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..6217
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14-q32"
     gene            1..6217
                     /gene="COL5A2"
                     /db_xref="LocusID:1290"
                     /db_xref="MIM:120190"
     CDS             158..4648
                     /gene="COL5A2"
                     /note="collagen V, alpha-2 polypeptide; AB collagen;
                     collagen, fetal membrane, A polypeptide"
                     /codon_start=1
                     /product="alpha 2 type V collagen preproprotein"
                     /protein_id="NP_000384.1"
                     /db_xref="GI:4502959"
                     /db_xref="LocusID:1290"
                     /db_xref="MIM:120190"
                     /db_xref="LocusID:1290"
                     /db_xref="MIM:120190"
                     /translation="MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQN
                     GQMYLNRDIWKPAPCQICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVCSQTPGG
                     GNTNFGRGRKGQKGEPGLVPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGI
                     DGEPGVPGQPGAPGPPGHPSHPGPDGLSRPFSAQMAGLDEKSGLGSQVGLMPGSVGPV
                     GPRGPQGLQGQQGGAGPTGPPGEPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRNGNPG
                     EVGFAGSPGARGFPGAPGLPGLKGHRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGP
                     LGPRGMPGERGRLGPQGAPGQRGAHGMPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPT
                     GARGPEGPQGQRGETGPPGPVGSPGLPGAIGTDGTPGPKGPTGSPGTSGPPGSAGPPG
                     SPGPQGSTGPQGNSGLPGDPGFKGEAGPKGEPGPHGIQGPIGPPGEEGKRGPRGDPGT
                     LGPPGPVGERGAPGNRGFPGSDGLPGPKGAQGERGPVGSSGPKGSQGDPGRPGEPGLP
                     GARGLTGNPGVQGPEGKLGPLGAPGEDGRPGPPGSIGIKGQPGTMGLPGPKGSNGDPG
                     KPGEAGNPGVPGQRGAPGKDGKVGPYGPPGPPGLRGERGEQGPPGPTGFQGHPGPPGP
                     PGEGGKPGDQGVPGGPGAVGPLGPRGERGNPGERGEPGITGLPGEKGMAGGHGPDGPK
                     GSPGPSGTPGDTGPPGLQGMPGERGIAGTPGPKGDRGGIGEKGAEGTAGNDGAGGLPG
                     PLGPPGPAGLLGEKGEPGPRGLVGPPGSRGNPGSRGENGPTGAVGFAGPQGSDGQPGV
                     KGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRGTQGPPGATGFPGSAGRV
                     GPPGPAGAPGPAGPLGEPGKEGPPGPRGDPGSHGRVGVRGPAGPPGGPGDKGDPGEDG
                     QPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVGPTGATGDKGPPGP
                     VGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPGSQGAPGTPGPV
                     GAPGDAGQRGDPGSRGPIGHLGRAGKRGLPGPQGPRGDKGDHGDRGDRGQKGHRGFTG
                     LQGLPGPPGPNGEQGSAGIPGPFGPRGPPGPVGPSGKEGNPGPLGPLGPPGVRGSVGE
                     AGPEGPPGEPGPPGPPGPPGHLTAALGDIMGHYDESMPDPLPEFTEDQAAPDDKNKTD
                     PGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSVEDA
                     IKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSPN
                     TAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNI
                     RFRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVC
                     FV"
     sig_peptide     158..235
                     /gene="COL5A2"
     mat_peptide     236..3835
                     /gene="COL5A2"
                     /product="alpha 2 type V collagen"
     misc_feature    278..445
                     /gene="COL5A2"
                     /note="VWC; Region: von Willebrand factor (vWF) type C
                     domain"
                     /db_xref="CDD:smart00214"
     misc_feature    278..445
                     /gene="COL5A2"
                     /note="vwc; Region: von Willebrand factor type C domain.
                     The high cutoff was used to prevent overlap with
                     pfam00094"
                     /db_xref="CDD:pfam00093"
     misc_feature    1685..1861
                     /gene="COL5A2"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    1685..1855
                     /gene="COL5A2"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    1784..1957
                     /gene="COL5A2"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    2684..2863
                     /gene="COL5A2"
                     /note="Collagen; Region: Collagen triple helix repeat (20
                     copies). Members of this family belong to the collagen
                     superfamily. Collagens are generally extracellular
                     structural proteins involved in formation of connective
                     tissue structure. The alignment contains 20 copies of the
                     G-X-Y repeat that forms a triple helix. The first position
                     of the repeat is G"
                     /db_xref="CDD:pfam01391"
     misc_feature    3941..4642
                     /gene="COL5A2"
                     /note="COLFI; Region: Fibrillar collagens C-terminal
                     domain"
                     /db_xref="CDD:smart00038"
     misc_feature    3992..4642
                     /gene="COL5A2"
                     /note="COLFI; Region: Fibrillar collagen C-terminal
                     domain. Found at C-termini of fibrillar collagens:
                     Ephydatia muelleri procollagen EMF1 alpha"
                     /db_xref="CDD:pfam01410"
     misc_feature    236..4648
                     /gene="COL5A2"
                     /note="alpha 2 type V collagen proprotein"
     variation       1468
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229495"
     variation       1986
                     /gene="COL5A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1131425"
     variation       2016
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1131426"
     variation       2051
                     /gene="COL5A2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1131427"
     variation       2068
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1131428"
     variation       4117
                     /gene="COL5A2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1131429"
     variation       4896
                     /gene="COL5A2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:15930"
     polyA_signal    4931..4936
                     /gene="COL5A2"
     polyA_site      4937
                     /gene="COL5A2"
     variation       4946
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3191510"
     variation       4946
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7586"
     variation       5040
                     /gene="COL5A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1131518"
     variation       5040
                     /gene="COL5A2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3191516"
     variation       complement(5812)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:13914"
     variation       complement(6047)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12886"
     variation       complement(6049)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:11186"
     variation       6130
                     /gene="COL5A2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1140641"
     variation       6132
                     /gene="COL5A2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1140642"
     polyA_signal    6178..6183
                     /gene="COL5A2"
     polyA_site      6202
                     /gene="COL5A2"
BASE COUNT     1647 a   1404 c   1702 g   1464 t
ORIGIN      
        1 cgcagactgt gctggagctg gtgctgaaaa agggggtttg cagaggctgc cctggggctg
       61 gtgctgaaag aagagcccac agctgacttc atggtgctac aataacctca gaatctactt
      121 ttcactctca ggagaaccca cagtctaata tttagacatg atggcaaact gggcggaagc
      181 aagacctctc ctcattctta ttgttttatt agggcaattt gtctcaataa aagcccagga
      241 agaagacgag gatgaaggat atggtgaaga aatagcctgc actcagaatg gccagatgta
      301 cttaaacagg gacatttgga aacctgcccc ttgtcagatc tgtgtctgtg acaatggagc
      361 cattctctgt gacaagatag aatgccagga tgtgctggac tgtgccgacc ctgtaacgcc
      421 ccctggggaa tgctgtcctg tctgttcaca aacacctgga ggtggcaata caaattttgg
      481 tagaggaaga aagggacaaa agggagaacc aggattagtg cctgttgtaa caggcatacg
      541 tggtcgtcca ggaccggcag gacctccagg atcacaggga ccaagaggag agcgagggcc
      601 aaaaggaaga cctggccctc gtggacctca gggaattgat ggagaaccag gtgttcctgg
      661 tcaacctggt gctccaggac ctcctggaca tccgtcccac ccaggacccg atggcttgag
      721 caggccgttt tcagctcaaa tggctgggtt ggatgaaaaa tctggacttg ggagtcaagt
      781 aggactaatg cctggctctg tgggtcctgt tggcccaagg ggaccacagg gtttacaagg
      841 acagcaaggt ggtgcaggac ctacaggacc tcctggtgaa cctggtgatc ctggaccaat
      901 gggtccgatt ggttcacgtg gaccagaggg ccctcctggt aaacctgggg aagatggtga
      961 acctggcaga aatggaaatc ctggtgaagt gggatttgca ggatctccgg gagctcgtgg
     1021 atttcctggg gctcctggtc ttccaggtct gaagggtcac cgaggacaca aaggtcttga
     1081 aggccctaaa ggtgaagttg gagcacctgg ttccaagggt gaagctggcc ccactggtcc
     1141 aatgggtgcc atgggtcctc tgggtccgag gggaatgcca ggagagagag ggagacttgg
     1201 gccacagggt gctcctggac aacgaggtgc acatggtatg cctggaaaac ctggaccaat
     1261 gggtcctctt gggataccag gctcttctgg ttttccagga aatcctggaa tgaagggaga
     1321 agcaggtcct acaggggcgc gaggccctga aggtcctcag gggcagagag gtgaaactgg
     1381 gcccccaggt ccagttggct ctccaggtct tcctggtgca ataggaactg atggtactcc
     1441 tggtcccaaa ggcccaacgg gctctccggg tacctctggt cctcctggct cagcagggcc
     1501 tcctggatct ccaggacctc agggtagcac tggtcctcag gggaattcgg gccttccggg
     1561 tgatccaggt ttcaaaggag aagctggccc aaaaggggaa ccagggccac atggtattca
     1621 gggtccgata ggcccacccg gtgaagaagg caaaagaggt cccagaggtg acccaggaac
     1681 acttggtcct ccagggccag tgggagaaag gggtgctcct ggcaatcgtg gttttccagg
     1741 ctctgatggt ttacctgggc caaagggtgc tcaaggagaa cggggtcctg taggttcttc
     1801 aggacccaaa ggaagccagg gggatccagg acgtccaggg gaacctgggc ttccaggtgc
     1861 tcggggtttg acaggaaatc ctggtgttca aggtcctgaa ggaaaacttg gacctttggg
     1921 tgcgccaggg gaagatggcc gtccaggtcc tccaggctcc ataggaatca aagggcagcc
     1981 cgggaccatg ggccttccag gccccaaagg tagcaatggt gaccctggga aacctggaga
     2041 agcaggaaat cctggagttc ctgggcaaag gggagctcct ggaaaagatg gtaaagttgg
     2101 tccttatggt cctcctgggc cgccgggtct acgtggtgaa agaggagaac aaggacctcc
     2161 agggcccaca ggttttcagg ggcatcctgg tcctccaggt cctcctggag aaggtggaaa
     2221 accaggtgat caaggtgttc ctggaggtcc cggagcagtt ggcccgttag gacctagagg
     2281 agaacgagga aatcctgggg aaagaggaga acctgggata actggactcc ctggtgagaa
     2341 gggaatggct ggaggacatg gtcctgatgg cccaaaaggc agtccaggtc catctgggac
     2401 ccctggagat acaggcccac caggtcttca aggtatgccg ggagaaagag gaattgcagg
     2461 aactcctggc cccaagggtg acagaggtgg cataggagaa aaaggtgctg aaggcacagc
     2521 tggaaatgat ggtgcaggag gtcttccagg tcctttgggc cctccaggtc cggcaggcct
     2581 actgggagaa aagggtgaac ctggtcctcg aggtttagtt ggtcctcctg gctcccgggg
     2641 caatcctggt tctcgaggtg aaaatgggcc aactggagct gttggttttg ccggacccca
     2701 ggggtctgac ggacagcctg gagtaaaagg tgaacctgga gagccaggac agaagggaga
     2761 tgctggttct cctggaccac aaggtttagc aggatcccct ggccctcatg gtcctaatgg
     2821 tgttcctgga ctaaaaggtg gtcgaggaac ccaaggtccg cctggtgcta caggatttcc
     2881 tggttctgcg ggcagagttg gacctccagg ccctgctgga gctccaggac ctgcgggacc
     2941 cctaggggaa cccgggaagg agggacctcc aggtcctcgt ggggaccctg gctctcatgg
     3001 gcgtgtggga gtccgaggac cagctggccc ccctggtggc ccaggagaca aaggggaccc
     3061 aggagaagat gggcaacctg gtccagatgg cccccctggt ccagctggaa cgaccgggca
     3121 gagaggaatt gttggcatgc ctgggcaacg tggagagaga ggcatgcccg gcctaccagg
     3181 cccagcggga acaccaggaa aagtaggacc aactggtgca acaggagata aaggtccacc
     3241 tggacctgtg gggcccccag gctccaatgg tcctgtaggg gaacctggac cagaaggtcc
     3301 agctggcaat gatggtaccc caggacggga tggtgctgtt ggagaacgtg gtgatcgtgg
     3361 agaccctggg cctgcaggtc tgccaggctc tcagggtgcc cctggaactc ctggccctgt
     3421 gggtgctcca ggagatgcag gacaaagagg agatccgggt tctcggggtc ctataggaca
     3481 cctgggtcga gctggaaaac gtggattacc tggaccccaa ggacctcgtg gtgacaaagg
     3541 tgatcatgga gaccgaggcg acagaggtca gaagggccac agaggcttta ctggtcttca
     3601 gggtcttcct ggccctcctg gtccaaatgg tgaacaagga agtgctggaa tccctggacc
     3661 atttggccca agaggtcctc caggcccagt tggtccttca ggtaaagaag gaaaccctgg
     3721 gccacttggg ccattgggac ctccaggtgt acgaggcagt gtaggagaag caggacctga
     3781 gggccctcct ggtgagcctg gcccacctgg ccctccgggt ccccctggcc accttacagc
     3841 tgctcttggg gatatcatgg ggcactatga tgaaagcatg ccagatccac ttcctgagtt
     3901 tactgaagat caggcggctc ctgatgacaa aaacaaaacg gacccagggg ttcatgctac
     3961 cctgaagtca ctcagtagtc agattgaaac catgcgcagc cccgatggct cgaaaaagca
     4021 cccagcccgc acgtgtgatg acctaaagct ttgccattcc gcaaagcaga gtggtgaata
     4081 ctggattgat cctaaccaag gatctgttga agatgccatc aaagtttact gcaacatgga
     4141 aacaggagaa acatgtattt cagcaaaccc atccagtgta ccacgtaaaa cctggtgggc
     4201 cagtaaatct cctgacaata aacctgtttg gtatggtctt gatatgaaca gagggtctca
     4261 gttcgcttat ggagaccacc aatcacctaa tacagccatt actcagatga cttttttgcg
     4321 ccttttatca aaagaagcct cccagaacat cacttacatc tgtaaaaaca gtgtaggata
     4381 catggacgat caagctaaga acctcaaaaa agctgtggtt ctcaaagggg caaatgactt
     4441 agatatcaaa gcagagggaa atattagatt ccggtatatc gttcttcaag acacttgctc
     4501 taagcggaat ggaaatgtgg gcaagactgt ctttgaatat agaacacaga atgtggcacg
     4561 cttgcccatc atagatcttg ctcctgtgga tgttggcggc acagaccagg aattcggcgt
     4621 tgaaattggg ccagtttgtt ttgtgtaaag taagccaaga cacatcgaca atgagcacca
     4681 ccatcaatga ccaccgccat tcacaagaac tttgactgtt tgaagttgat cctgagactc
     4741 ttgaagtaat ggctgatcct gcatcagcat tgtatatatg gtcttaagtg cctggcctcc
     4801 ttatccttca gaatatttat tttacttaca atcctcaagt tttaattgat tttaaatatt
     4861 tttcaataca acagtttagg tttaagatga ccaatgacaa tgaccacctt tgcagaaagt
     4921 aaactgattg aataaataaa tctccgtttt cttcaattta tttcagtgta atgaaaaagt
     4981 tgcttagtat ttatgaggaa attcttcttc ctggcaggta gcttaaagag tggggtatat
     5041 agagccacaa cacatgttta ttttgcttgg ctgcagttga aaaatagaaa ttagtgccct
     5101 tttgtgacct ctcattccaa gattgtcaat taaaaatgag tttaaaatgt ttaacttgtg
     5161 atcgagacct acatgcatgt cttgatattg tgtaactata atagagactc tttaaggaga
     5221 atcttaaaaa aaaaaaacgt ttctcactgt cttaaataga atttttaaat agtatatatt
     5281 cagtggcatt ttggagaaca aagtgaattt acttcgactt cttaaatttt tgtaaaagac
     5341 tataagttta gacatctttc tcattcaaat ttaaagatat ctttctcctc ttgatcaatc
     5401 tatcaatatt gatagaagtc acactagtat ataccattta atacatttac actttcttat
     5461 ttaagaagat attgaatgca aaataattga catatagaac tttacaaaca tatgtccaag
     5521 gactctaaat tgagactctt ccacatgtac aatctcatca tcctgaagcc tataatgaag
     5581 aaaaagatct agaaactgag ttgtggagct gactctaatc aaatgtgatg attggaatta
     5641 gaccatttgg cctttgaact ttcataggaa aaatgaccca acatttctta gcatgagcta
     5701 cctcatctct agaagctggg atggacttac tattcttgtt tatattttag atactgaaag
     5761 gtgctatgct tctgttatta ttccaagact ggagataggc agggctaaaa aggtattatt
     5821 atttttcctt taatgatggt gctaaaattc ttcctataaa attccttaaa aataaagatg
     5881 gtttaatcac taccattgtg aaaacataac tgttagactt cccgtttctg aaagaaagag
     5941 catcgttcca atgcttgttc actgttcctc tgtcatactg tatctggaat gctttgtaat
     6001 acttgcatgc ttcttagacc agaacatgta ggtccccttg tgtctcaata cttttttttt
     6061 cttaattgca tttgttggct ctattttaat ttttttcttt taaaataaac agctgggacc
     6121 atcccaaaag acaagccatg catacaactt tggtcatgta tctctgcaaa gcatcaaatt
     6181 aaatgcacgc ttttgtcatg tcaaaaaaaa aaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004955. Homo sapiens solu...[gi:4826715] Links  


LOCUS       SLC29A1                 2162 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens solute carrier family 29 (nucleoside transporters),
            member 1 (SLC29A1), mRNA.
ACCESSION   NM_004955
VERSION     NM_004955.1  GI:4826715
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2162)
  AUTHORS   Griffiths,M., Beaumont,N., Yao,S.Y.M., Sundaram,M., Boumah,C.E.,
            Davies,A., Kwong,F.Y.P., Coe,I., Cass,C.E., Young,J.D. and
            Baldwin,S.A.
  TITLE     Cloning of a human nucleoside transporter implicated in the
            cellular uptake of adenosine and chemotherapeutic drugs
  JOURNAL   Nat. Med. 3 (1), 89-93 (1997)
  MEDLINE   97140266
   PUBMED   8986748
REFERENCE   2  (bases 1 to 2162)
  AUTHORS   Coe IR, Griffiths M, Young JD, Baldwin SA and Cass CE.
  TITLE     Assignment of the human equilibrative nucleoside transporter
            (hENT1) to 6p21.1-p21.2
  JOURNAL   Genomics 45 (2), 459-460 (1997)
  MEDLINE   98127401
   PUBMED   9344680
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U81375.1.
FEATURES             Location/Qualifiers
     source          1..2162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1-p21.2"
                     /tissue_type="placenta"
                     /note="expressed in adult erythrocytes, placenta, heart,
                     brain, mammary gland, and in fetal liver and/or spleen"
     gene            1..2162
                     /gene="SLC29A1"
                     /note="ENT1"
                     /db_xref="LocusID:2030"
                     /db_xref="MIM:602193"
     CDS             179..1549
                     /gene="SLC29A1"
                     /note="broad substrate specificity for purines and
                     pyrimidines; inhibited by nitrobenzylthioinosine (NBMPR),
                     dipyridamole and dilazep; equilibrative sensitive type
                     transporter; integral plasma membrane protein; similar to
                     M. musculus nucleolar protein HNP36, to human nucleolar
                     protein HNP36, to S. cerevisiae FUN26, to C. elegans
                     ZK809.4, to C. elegans K09A9.3, and to C. elegans F16H11.3
                     encoded, respectively, by GenBank Accession Numbers
                     X86682, X86681, L05146, Z68303, Z79601, and U55376"
                     /codon_start=1
                     /product="solute carrier family 29 (nucleoside
                     transporters), member 1"
                     /protein_id="NP_004946.1"
                     /db_xref="GI:4826716"
                     /db_xref="LocusID:2030"
                     /db_xref="MIM:602193"
                     /translation="MTTSHQPQDRYKAVWLIFFMLGLGTLLPWNFFMTATQYFTNRLD
                     MSQNVSLVTAELSKDAQASAAPAAPLPERNSLSAIFNNVMTLCAMLPLLLFTYLNSFL
                     HQRIPQSVRILGSLVAILLVFLITAILVKVQLDALPFFVITMIKIVLINSFGAILQGS
                     LFGLAGLLPASYTAPIMSGQGLAGFFASVAMICAIASGSELSESAFGYFITACAVIIL
                     TIICYLGLPRLEFYRYYQQLKLEGPGEQETKLDLISKGEEPRAGKEESGVSVSNSQPT
                     NESHSIKAILKNISVLAFSVCFIFTITIGMFPAVTVEVKSSIAGSSTWERYFIPVSCF
                     LTFNIFDWLGRSLTAVFMWPGKDSRWLPSLVLARLVFVPLLLLCNIKPRRYLTVVFEH
                     DAWFIFFMAAFAFSNGYLASLCMCFGPKKVKPAEAETAGAIMAFFLCLGLALGAVFSF
                     LFRAIV"
     misc_feature    608..1480
                     /gene="SLC29A1"
                     /note="Nucleoside_tran; Region: Nucleoside transporter"
                     /db_xref="CDD:pfam01733"
     variation       778
                     /gene="SLC29A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1128870"
     variation       1991
                     /gene="SLC29A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:14623"
     variation       2018
                     /gene="SLC29A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3734703"
     variation       2045
                     /gene="SLC29A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1046309"
BASE COUNT      389 a    638 c    560 g    575 t
ORIGIN      
        1 gggctgcgct gtccagctgt ggctatggcc ccagccccga gatgaggagg gagagaacta
       61 ggggcccgca ggcctgggaa tttccgtccc ccaccaagtc cggatgctca ctccaaagtc
      121 tcagcaggcc cctgagggag ggagctgtca gccagggaaa accgagaaca ccatcaccat
      181 gacaaccagt caccagcctc aggacagata caaagctgtc tggcttatct tcttcatgct
      241 gggtctggga acgctgctcc cgtggaattt tttcatgacg gccactcagt atttcacaaa
      301 ccgcctggac atgtcccaga atgtgtcctt ggtcactgct gaactgagca aggacgccca
      361 ggcgtcagcc gcccctgcag cacccttgcc tgagcggaac tctctcagtg ccatcttcaa
      421 caatgtcatg accctatgtg ccatgctgcc cctgctgtta ttcacctacc tcaactcctt
      481 cctgcatcag aggatccccc agtccgtacg gatcctgggc agcctggtgg ccatcctgct
      541 ggtgtttctg atcactgcca tcctggtgaa ggtgcagctg gatgctctgc ccttctttgt
      601 catcaccatg atcaagatcg tgctcattaa ttcatttggt gccatcctgc agggcagcct
      661 gtttggtctg gctggccttc tgcctgccag ctacacggcc cccatcatga gtggccaggg
      721 cctagcaggc ttctttgcct ccgtggccat gatctgcgct attgccagtg gctcggaact
      781 atcagaaagt gccttcggct actttatcac agcctgtgct gttatcattt tgaccatcat
      841 ctgttacctg ggcctgcccc gcctggaatt ctaccgctac taccagcagc tcaagcttga
      901 aggacccggg gagcaggaga ccaagttgga cctcattagc aaaggagagg agccaagagc
      961 aggcaaagag gaatctggag tttcagtctc caactctcag cccaccaatg aaagccactc
     1021 tatcaaagcc atcctgaaaa atatctcagt cctggctttc tctgtctgct tcatcttcac
     1081 tatcaccatt gggatgtttc cagccgtgac tgttgaggtc aagtccagca tcgcaggcag
     1141 cagcacctgg gaacgttact tcattcctgt gtcctgtttc ttgactttca atatctttga
     1201 ctggttgggc cggagcctca cagctgtatt catgtggcct gggaaggaca gccgctggct
     1261 gccaagcctg gtgctggccc ggctggtgtt tgtgccactg ctgctgctgt gcaacattaa
     1321 gccccgccgc tacctgactg tggtcttcga gcacgatgcc tggttcatct tcttcatggc
     1381 tgcctttgcc ttctccaacg gctacctcgc cagcctctgc atgtgcttcg ggcccaagaa
     1441 agtgaagcca gctgaggcag agaccgcagg agccatcatg gccttcttcc tgtgtctggg
     1501 tctggcactg ggggctgttt tctccttcct gttccgggca attgtgtgac aaaggatgga
     1561 cagaaggact gcctgcctcc ctccctgtct gcctcctgcc ccttccttct gccaggggtg
     1621 atcctgagtg gtctggcggt tttttcttct aactgacttc tgctttccac ggcgtgtgct
     1681 gggcccggat ctccaggccc tggggaggga gcctctggac ggacagtggg gacattgtgg
     1741 gtttggggct cagagtcgag ggacggggtg tagcctcggc atttgcttga gtttctccac
     1801 tcttggctct gactgatccc tgcttgtgca ggccagtgga ggctcttggg cttggagaac
     1861 acgtgtgtct ctgtgtatgt gtctgtgtgt ctgcgtccgt gtctgtcaga ctgtctgcct
     1921 gtcctggggt ggctaggagc tgggtctgac cgttgtatgg tttgacctga tatactccat
     1981 tctcccctgc gcctcctcct ctgtgttttt tccatgtccc cctcccaact ccccatgccc
     2041 agtttttacc catcatgcac cctgtacagt tgccacgtta ctgccttttt taaaaatata
     2101 tttgacagaa accaggtgcc ttcagaggct ctctgattta aataaacctt tcttgttttt
     2161 tt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004955. Homo sapiens solu...[gi:4826715] Links  


LOCUS       SLC29A1                 2162 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens solute carrier family 29 (nucleoside transporters),
            member 1 (SLC29A1), mRNA.
ACCESSION   NM_004955
VERSION     NM_004955.1  GI:4826715
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2162)
  AUTHORS   Griffiths,M., Beaumont,N., Yao,S.Y.M., Sundaram,M., Boumah,C.E.,
            Davies,A., Kwong,F.Y.P., Coe,I., Cass,C.E., Young,J.D. and
            Baldwin,S.A.
  TITLE     Cloning of a human nucleoside transporter implicated in the
            cellular uptake of adenosine and chemotherapeutic drugs
  JOURNAL   Nat. Med. 3 (1), 89-93 (1997)
  MEDLINE   97140266
   PUBMED   8986748
REFERENCE   2  (bases 1 to 2162)
  AUTHORS   Coe IR, Griffiths M, Young JD, Baldwin SA and Cass CE.
  TITLE     Assignment of the human equilibrative nucleoside transporter
            (hENT1) to 6p21.1-p21.2
  JOURNAL   Genomics 45 (2), 459-460 (1997)
  MEDLINE   98127401
   PUBMED   9344680
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from U81375.1.
FEATURES             Location/Qualifiers
     source          1..2162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1-p21.2"
                     /tissue_type="placenta"
                     /note="expressed in adult erythrocytes, placenta, heart,
                     brain, mammary gland, and in fetal liver and/or spleen"
     gene            1..2162
                     /gene="SLC29A1"
                     /note="ENT1"
                     /db_xref="LocusID:2030"
                     /db_xref="MIM:602193"
     CDS             179..1549
                     /gene="SLC29A1"
                     /note="broad substrate specificity for purines and
                     pyrimidines; inhibited by nitrobenzylthioinosine (NBMPR),
                     dipyridamole and dilazep; equilibrative sensitive type
                     transporter; integral plasma membrane protein; similar to
                     M. musculus nucleolar protein HNP36, to human nucleolar
                     protein HNP36, to S. cerevisiae FUN26, to C. elegans
                     ZK809.4, to C. elegans K09A9.3, and to C. elegans F16H11.3
                     encoded, respectively, by GenBank Accession Numbers
                     X86682, X86681, L05146, Z68303, Z79601, and U55376"
                     /codon_start=1
                     /product="solute carrier family 29 (nucleoside
                     transporters), member 1"
                     /protein_id="NP_004946.1"
                     /db_xref="GI:4826716"
                     /db_xref="LocusID:2030"
                     /db_xref="MIM:602193"
                     /translation="MTTSHQPQDRYKAVWLIFFMLGLGTLLPWNFFMTATQYFTNRLD
                     MSQNVSLVTAELSKDAQASAAPAAPLPERNSLSAIFNNVMTLCAMLPLLLFTYLNSFL
                     HQRIPQSVRILGSLVAILLVFLITAILVKVQLDALPFFVITMIKIVLINSFGAILQGS
                     LFGLAGLLPASYTAPIMSGQGLAGFFASVAMICAIASGSELSESAFGYFITACAVIIL
                     TIICYLGLPRLEFYRYYQQLKLEGPGEQETKLDLISKGEEPRAGKEESGVSVSNSQPT
                     NESHSIKAILKNISVLAFSVCFIFTITIGMFPAVTVEVKSSIAGSSTWERYFIPVSCF
                     LTFNIFDWLGRSLTAVFMWPGKDSRWLPSLVLARLVFVPLLLLCNIKPRRYLTVVFEH
                     DAWFIFFMAAFAFSNGYLASLCMCFGPKKVKPAEAETAGAIMAFFLCLGLALGAVFSF
                     LFRAIV"
     misc_feature    608..1480
                     /gene="SLC29A1"
                     /note="Nucleoside_tran; Region: Nucleoside transporter"
                     /db_xref="CDD:pfam01733"
     variation       778
                     /gene="SLC29A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1128870"
     variation       1991
                     /gene="SLC29A1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:14623"
     variation       2018
                     /gene="SLC29A1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3734703"
     variation       2045
                     /gene="SLC29A1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1046309"
BASE COUNT      389 a    638 c    560 g    575 t
ORIGIN      
        1 gggctgcgct gtccagctgt ggctatggcc ccagccccga gatgaggagg gagagaacta
       61 ggggcccgca ggcctgggaa tttccgtccc ccaccaagtc cggatgctca ctccaaagtc
      121 tcagcaggcc cctgagggag ggagctgtca gccagggaaa accgagaaca ccatcaccat
      181 gacaaccagt caccagcctc aggacagata caaagctgtc tggcttatct tcttcatgct
      241 gggtctggga acgctgctcc cgtggaattt tttcatgacg gccactcagt atttcacaaa
      301 ccgcctggac atgtcccaga atgtgtcctt ggtcactgct gaactgagca aggacgccca
      361 ggcgtcagcc gcccctgcag cacccttgcc tgagcggaac tctctcagtg ccatcttcaa
      421 caatgtcatg accctatgtg ccatgctgcc cctgctgtta ttcacctacc tcaactcctt
      481 cctgcatcag aggatccccc agtccgtacg gatcctgggc agcctggtgg ccatcctgct
      541 ggtgtttctg atcactgcca tcctggtgaa ggtgcagctg gatgctctgc ccttctttgt
      601 catcaccatg atcaagatcg tgctcattaa ttcatttggt gccatcctgc agggcagcct
      661 gtttggtctg gctggccttc tgcctgccag ctacacggcc cccatcatga gtggccaggg
      721 cctagcaggc ttctttgcct ccgtggccat gatctgcgct attgccagtg gctcggaact
      781 atcagaaagt gccttcggct actttatcac agcctgtgct gttatcattt tgaccatcat
      841 ctgttacctg ggcctgcccc gcctggaatt ctaccgctac taccagcagc tcaagcttga
      901 aggacccggg gagcaggaga ccaagttgga cctcattagc aaaggagagg agccaagagc
      961 aggcaaagag gaatctggag tttcagtctc caactctcag cccaccaatg aaagccactc
     1021 tatcaaagcc atcctgaaaa atatctcagt cctggctttc tctgtctgct tcatcttcac
     1081 tatcaccatt gggatgtttc cagccgtgac tgttgaggtc aagtccagca tcgcaggcag
     1141 cagcacctgg gaacgttact tcattcctgt gtcctgtttc ttgactttca atatctttga
     1201 ctggttgggc cggagcctca cagctgtatt catgtggcct gggaaggaca gccgctggct
     1261 gccaagcctg gtgctggccc ggctggtgtt tgtgccactg ctgctgctgt gcaacattaa
     1321 gccccgccgc tacctgactg tggtcttcga gcacgatgcc tggttcatct tcttcatggc
     1381 tgcctttgcc ttctccaacg gctacctcgc cagcctctgc atgtgcttcg ggcccaagaa
     1441 agtgaagcca gctgaggcag agaccgcagg agccatcatg gccttcttcc tgtgtctggg
     1501 tctggcactg ggggctgttt tctccttcct gttccgggca attgtgtgac aaaggatgga
     1561 cagaaggact gcctgcctcc ctccctgtct gcctcctgcc ccttccttct gccaggggtg
     1621 atcctgagtg gtctggcggt tttttcttct aactgacttc tgctttccac ggcgtgtgct
     1681 gggcccggat ctccaggccc tggggaggga gcctctggac ggacagtggg gacattgtgg
     1741 gtttggggct cagagtcgag ggacggggtg tagcctcggc atttgcttga gtttctccac
     1801 tcttggctct gactgatccc tgcttgtgca ggccagtgga ggctcttggg cttggagaac
     1861 acgtgtgtct ctgtgtatgt gtctgtgtgt ctgcgtccgt gtctgtcaga ctgtctgcct
     1921 gtcctggggt ggctaggagc tgggtctgac cgttgtatgg tttgacctga tatactccat
     1981 tctcccctgc gcctcctcct ctgtgttttt tccatgtccc cctcccaact ccccatgccc
     2041 agtttttacc catcatgcac cctgtacagt tgccacgtta ctgccttttt taaaaatata
     2101 tttgacagaa accaggtgcc ttcagaggct ctctgattta aataaacctt tcttgttttt
     2161 tt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001908. Homo sapiens cath...[gi:22538429] Links  


LOCUS       CTSB                    1978 bp    mRNA    linear   PRI 29-AUG-2002
DEFINITION  Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.
ACCESSION   NM_001908
VERSION     NM_001908.2  GI:22538429
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1978)
  AUTHORS   Fong,D., Calhoun,D.H., Hsieh,W.T., Lee,B. and Wells,R.D.
  TITLE     Isolation of a cDNA clone for the human lysosomal proteinase
            cathepsin B
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 83 (9), 2909-2913 (1986)
  MEDLINE   86206063
   PUBMED   3010323
REFERENCE   2  (bases 1 to 1978)
  AUTHORS   Chan,S.J., San Segundo,B., McCormick,M.B. and Steiner,D.F.
  TITLE     Nucleotide and predicted amino acid sequences of cloned human and
            mouse preprocathepsin B cDNAs
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 83 (20), 7721-7725 (1986)
  MEDLINE   87017021
   PUBMED   3463996
REFERENCE   3  (bases 1 to 1978)
  AUTHORS   Tagawa,K., Kunishita,T., Maruyama,K., Yoshikawa,K., Kominami,E.,
            Tsuchiya,T., Suzuki,K., Tabira,T., Sugita,H. and Ishiura,S.
  TITLE     Alzheimer's disease amyloid beta-clipping enzyme (APP secretase):
            identification, purification, and characterization of the enzyme
  JOURNAL   Biochem. Biophys. Res. Commun. 177 (1), 377-387 (1991)
  MEDLINE   91254304
   PUBMED   1645961
REFERENCE   4  (bases 1 to 1978)
  AUTHORS   Fong,D., Chan,M.M., Hsieh,W.T., Menninger,J.C. and Ward,D.C.
  TITLE     Confirmation of the human cathepsin B gene (CTSB) assignment to
            chromosome 8
  JOURNAL   Hum. Genet. 89 (1), 10-12 (1992)
  MEDLINE   92249998
   PUBMED   1577456
REFERENCE   5  (bases 1 to 1978)
  AUTHORS   Moin,K., Day,N.A., Sameni,M., Hasnain,S., Hirama,T. and Sloane,B.F.
  TITLE     Human tumour cathepsin B. Comparison with normal liver cathepsin B
  JOURNAL   Biochem. J. 285 (Pt 2), 427-434 (1992)
  MEDLINE   92344620
   PUBMED   1637335
REFERENCE   6  (bases 1 to 1978)
  AUTHORS   Tam,S.W., Cote-Paulino,L.R., Peak,D.A., Sheahan,K. and Murnane,M.J.
  TITLE     Human cathepsin B-encoding cDNAs: sequence variations in the
            3'-untranslated region
  JOURNAL   Gene 139 (2), 171-176 (1994)
  MEDLINE   94156195
   PUBMED   7509303
REFERENCE   7  (bases 1 to 1978)
  AUTHORS   Cao,L., Taggart,R.T., Berquin,I.M., Moin,K., Fong,D. and
            Sloane,B.F.
  TITLE     Human gastric adenocarcinoma cathepsin B: isolation and sequencing
            of full-length cDNAs and polymorphisms of the gene
  JOURNAL   Gene 139 (2), 163-169 (1994)
  MEDLINE   94156194
   PUBMED   8112600
REFERENCE   8  (bases 1 to 1978)
  AUTHORS   Berquin,I.M., Cao,L., Fong,D. and Sloane,B.F.
  TITLE     Identification of two new exons and multiple transcription start
            points in the 5'-untranslated region of the human
            cathepsin-B-encoding gene
  JOURNAL   Gene 159 (2), 143-149 (1995)
  MEDLINE   95347589
   PUBMED   7622042
REFERENCE   9  (bases 1 to 1978)
  AUTHORS   Soderstrom,M., Salminen,H., Glumoff,V., Kirschke,H., Aro,H. and
            Vuorio,E.
  TITLE     Cathepsin expression during skeletal development
  JOURNAL   Biochim. Biophys. Acta 1446 (1-2), 35-46 (1999)
  MEDLINE   99326135
   PUBMED   10395917
REFERENCE   10 (bases 1 to 1978)
  AUTHORS   MacKenzie,J.R., Mason,S.L., Hickford,J.G., Kohonen-Corish,M.R. and
            Bickerstaffe,R.
  TITLE     A polymorphic marker for the human cathepsin B gene
  JOURNAL   Mol. Cell. Probes 15 (4), 235-237 (2001)
  MEDLINE   21406036
   PUBMED   11513559
REFERENCE   11 (bases 1 to 1978)
  AUTHORS   Kukor,Z., Mayerle,J., Kruger,B., Toth,M., Steed,P.M., Halangk,W.,
            Lerch,M.M. and Sahin-Toth,M.
  TITLE     Presence of cathepsin B in the human pancreatic secretory pathway
            and its role in trypsinogen activation during hereditary
            pancreatitis
  JOURNAL   J. Biol. Chem. 277 (24), 21389-21396 (2002)
  MEDLINE   22050610
   PUBMED   11932257
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from L16510.1, AK092070.1 and
            BM008741.1.
            On Aug 29, 2002 this sequence version replaced gi:4503138.
            Summary: The protein encoded by this gene is a lysosomal cysteine
            proteinase composed of a dimer of disulfide-linked heavy and light
            chains, both produced from a single protein precursor. It is also
            known as amyloid precursor protein secretase and is involved in the
            proteolytic processing of amyloid precursor protein (APP).
            Incomplete proteolytic processing of APP has been suggested to be a
            causative factor in Alzheimer disease, the most common cause of
            dementia. Overexpression of the encoded protein, which is a member
            of the peptidase C1 family, has been associated with esophageal
            adenocarcinoma and other tumors. At least five transcript variants
            encoding the same protein have been found for this gene.
            Transcript Variant: This variant (1) represents the shortest but
            predominant transcript.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1978
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..1978
                     /gene="CTSB"
                     /note="APPS; CPSB"
                     /db_xref="LocusID:1508"
                     /db_xref="MIM:116810"
     CDS             152..1171
                     /gene="CTSB"
                     /EC_number="3.4.22.1"
                     /note="APP secretase; preprocathepsin B; cathepsin B1;
                     amyloid precursor protein secretase"
                     /codon_start=1
                     /product="cathepsin B preproprotein"
                     /protein_id="NP_001899.1"
                     /db_xref="GI:4503139"
                     /db_xref="LocusID:1508"
                     /db_xref="MIM:116810"
                     /translation="MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAG
                     HNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKLPASFDAREQWPQCPTIKEIRDQ
                     GSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWN
                     FWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPT
                     YKQDKHYGYNSYSVSNSEKDIMAEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMG
                     GHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCGIESEVVAGIPRTDQ
                     YWEKI"
     sig_peptide     152..202
                     /gene="CTSB"
     misc_feature    389..1138
                     /gene="CTSB"
                     /note="Region: pfam00112, Peptidase_C1, Papain family
                     cysteine protease"
     misc_feature    389..1138
                     /gene="CTSB"
                     /note="Region: smart00645, Pept_C1, Papain family cysteine
                     protease"
     mat_peptide     389..529
                     /gene="CTSB"
                     /product="cathepsin B light chain"
     mat_peptide     536..1150
                     /gene="CTSB"
                     /product="cathepsin B heavy chain"
     misc_feature    203..1168
                     /gene="CTSB"
                     /note="cathepsin B proprotein"
     polyA_signal    1955..1960
                     /gene="CTSB"
     polyA_site      1978
                     /gene="CTSB"
                     /evidence=experimental
BASE COUNT      461 a    539 c    546 g    432 t
ORIGIN      
        1 gggagggtac ttagggccgg ggctggccca ggctacggcg gctgcagggc tccggcaacc
       61 gctccggcaa cgccaaccgc tccgctgcgc gcaggctggg ctgcaggctc tcggctgcag
      121 cgctgggtgg atctaggatc cggcttccaa catgtggcag ctctgggcct ccctctgctg
      181 cctgctggtg ttggccaatg cccggagcag gccctctttc catcccctgt cggatgagct
      241 ggtcaactat gtcaacaaac ggaataccac gtggcaggcc gggcacaact tctacaacgt
      301 ggacatgagc tacttgaaga ggctatgtgg taccttcctg ggtgggccca agccacccca
      361 gagagttatg tttaccgagg acctgaagct gcctgcaagc ttcgatgcac gggaacaatg
      421 gccacagtgt cccaccatca aagagatcag agaccagggc tcctgtggct cctgctgggc
      481 cttcggggct gtggaagcca tctctgaccg gatctgcatc cacaccaatg cgcacgtcag
      541 cgtggaggtg tcggcggagg acctgctcac atgctgtggc agcatgtgtg gggacggctg
      601 taatggtggc tatcctgctg aagcttggaa cttctggaca agaaaaggcc tggtttctgg
      661 tggcctctat gaatcccatg tagggtgcag accgtactcc atccctccct gtgagcacca
      721 cgtcaacggc tcccggcccc catgcacggg ggagggagat acccccaagt gtagcaagat
      781 ctgtgagcct ggctacagcc cgacctacaa acaggacaag cactacggat acaattccta
      841 cagcgtctcc aatagcgaga aggacatcat ggccgagatc tacaaaaacg gccccgtgga
      901 gggagctttc tctgtgtatt cggacttcct gctctacaag tcaggagtgt accaacacgt
      961 caccggagag atgatgggtg gccatgccat ccgcatcctg ggctggggag tggagaatgg
     1021 cacaccctac tggctggttg ccaactcctg gaacactgac tggggtgaca atggcttctt
     1081 taaaatactc agaggacagg atcactgtgg aatcgaatca gaagtggtgg ctggaattcc
     1141 acgcaccgat cagtactggg aaaagatcta atctgccgtg ggcctgtcgt gccagtcctg
     1201 ggggcgagat cggggtagaa atgcatttta ttctttaagt tcacgtaaga tacaagtttc
     1261 agacagggtc tgaaggactg gattggccaa acatcagacc tgtcttccaa ggagaccaag
     1321 tcctggctac atcccagcct gtggttacag tgcagacagg ccatgtgagc caccgctgcc
     1381 agcacagagc gtccttcccc ctgtagacta gtgccgtagg gagtacctgc tgccccagct
     1441 gactgtggcc ccctccgtga tccatccatc tccagggagc aagacagaga cgcaggaatg
     1501 gaaagcggag ttcctaacag gatgaaagtt cccccatcag ttcccccagt acctccaagc
     1561 aagtagcttt ccacatttgt cacagaaatc agaggagaga tggtgttggg agccctttgg
     1621 agaacgccag tctcccaggc cccctgcatc tatcgagttt gcaatgtcac aacctctctg
     1681 atcttgtgct cagcatgatt ctttaataga agttttattt tttcgtgcac tctgctaatc
     1741 atgtgggtga gccagtggaa cagcgggaga cctgtgctag ttttacagat tgcctcctaa
     1801 tgacgcggct caaaaggaaa ccaagtggtc aggagttgtt tctgacccac tgatctctac
     1861 taccacaagg aaaatagttt aggagaaacc agcttttact gtttttgaaa aattacagct
     1921 tcaccctgtc aagttaacaa ggaatgcctg tgccaataaa agttttctcc aacttgaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedTaxonomyTaxonomyUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_020648. Homo sapiens twis...[gi:21314788] Links  


LOCUS       TSG                     3693 bp    mRNA    linear   PRI 01-OCT-2002
DEFINITION  Homo sapiens twisted gastrulation (TSG), mRNA.
ACCESSION   NM_020648
VERSION     NM_020648.3  GI:21314788
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3693)
  AUTHORS   Oelgeschlager,M., Larrain,J., Geissert,D. and De Robertis,E.M.
  TITLE     The evolutionarily conserved BMP-binding protein Twisted
            gastrulation promotes BMP signalling
  JOURNAL   Nature 405 (6788), 757-763 (2000)
  MEDLINE   20322558
   PUBMED   10866189
REFERENCE   2  (bases 1 to 3693)
  AUTHORS   Scott,I.C., Blitz,I.L., Pappano,W.N., Maas,S.A., Cho,K.W. and
            Greenspan,D.S.
  TITLE     Homologues of Twisted gastrulation are extracellular cofactors in
            antagonism of BMP signalling
  JOURNAL   Nature 410 (6827), 475-478 (2001)
  MEDLINE   21160349
   PUBMED   11260715
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC020490.1.
            On Jun 3, 2002 this sequence version replaced gi:20149659.
FEATURES             Location/Qualifiers
     source          1..3693
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.3"
                     /clone="MGC:10034 IMAGE:3889103"
                     /tissue_type="Lung, carcinoma, large cell
                     undifferentiated."
                     /clone_lib="NIH_MGC_69"
                     /lab_host="DH10B"
                     /note="Vector: pCMV-SPORT6"
     gene            1..3693
                     /gene="TSG"
                     /db_xref="LocusID:57045"
                     /db_xref="MIM:605049"
     CDS             106..777
                     /gene="TSG"
                     /codon_start=1
                     /product="twisted gastrulation"
                     /protein_id="NP_065699.1"
                     /db_xref="GI:10190664"
                     /db_xref="LocusID:57045"
                     /db_xref="MIM:605049"
                     /translation="MKLHYVAVLTLAILMFLTWLPESLSCNKALCASDVSKCLIQELC
                     QCRPGEGNCSCCKECMLCLGALWDECCDCVGMCNPRNYSDTPPTSKSTVEELHEPIPS
                     LFRALTEGDTQLNWNIVSFPVAEELSHHENLVSFLETVNQPHHQNVSVPSNNVHAPYS
                     SDKEHMCTVVYFDDCMSIHQCKISCESMGASKYRWFHNACCECIGPECIDYGSKTVKC
                     MNCMF"
     variation       1057
                     /gene="TSG"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1045268"
     variation       complement(1073)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2298545"
     variation       1675
                     /gene="TSG"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:13285"
     variation       1954
                     /gene="TSG"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7846"
     variation       2071
                     /gene="TSG"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3185190"
     variation       3427
                     /gene="TSG"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1062359"
BASE COUNT     1154 a    607 c    662 g   1270 t
ORIGIN      
        1 cgcgccccgg gctcggccga cccggcgggg atctaggggt gggcgacttc gcgggaccgt
       61 ggcgcatgtt tcctgggagt tactgatcat cttctttgaa gaaacatgaa gttacactat
      121 gttgctgtgc ttactctagc catcctgatg ttcctgacat ggcttccaga atcactgagc
      181 tgtaacaaag cactctgtgc tagtgatgtg agcaaatgcc tcattcagga gctctgccag
      241 tgccggccgg gagaaggcaa ttgctcctgc tgtaaggagt gcatgctgtg tcttggggcc
      301 ctttgggacg agtgctgtga ctgtgttggt atgtgtaatc ctcgaaatta tagtgacaca
      361 cctccaactt caaagagcac agtggaggag ctgcatgaac cgatcccttc tctcttccgg
      421 gcactcacag aaggagatac tcagttgaat tggaacatcg tttctttccc tgttgcagaa
      481 gaactttcac atcatgagaa tctggtttca tttttagaaa ctgtgaacca gccacaccac
      541 cagaatgtgt ctgtccccag caataatgtt cacgcgcctt attccagtga caaagaacac
      601 atgtgtactg tggtttattt tgatgactgc atgtccatac atcagtgtaa aatatcctgt
      661 gagtccatgg gagcatccaa atatcgctgg tttcataatg cctgctgcga gtgcattggt
      721 ccagaatgta ttgactatgg tagtaaaact gtcaaatgta tgaactgcat gttttaaaga
      781 agacaaatgc aaaccaaagc aacttagtaa aataataggt ataaaaagtt attctgtaag
      841 tctgttggtt gtatcttgta tcagaatccc agtaagttaa gttgtaaaga ctttggaata
      901 agtttctttt aaaaatatga catagccagt gatgtgttta attatataac tgttcttact
      961 gattttattg ccccctagca ataagccctt tcctttgaat acatgtacaa ctttggtcat
     1021 atgagaagca ggtgcgcaga gaattccttg aaagatctga ggtttttaac ataaagtctg
     1081 atgtggtttt cctctagcat tccaaaaggt ttttgctttg aaagtgttag cagaagcatg
     1141 ttgatgtgaa ttatgatttc ttcatgtgct actgttagca cactgagttt ttatagttgc
     1201 acatcattcc tcattgtgcc ttgttttatc cattttataa atagagtaga tatttgatat
     1261 accactctga taactcatat aaaaatatca tcataaaaag cttaatttca tcccttttat
     1321 gttggtttta aaaggtaaat gcttaccata ttttataatt gagaactctt acatagtaga
     1381 atccattcta taatacatgt gttgacaaag ctttagagaa agtttcctat tctcttccat
     1441 ttcccctgcc caaagtgctg acataggcag tgatgaagaa tctttaccaa gattttcagg
     1501 gtgtacctat gaaattgctt taaatgcact gctggtgtaa ataattagca agcaaaagcg
     1561 tttctgtgac ttcaggtacc agcttaaaga gcactaggga tggggaacga atgccaaatc
     1621 agactccacc tagagcacca ggaaacagct tgtaccctgg tagggaaatg gtgtcgctga
     1681 aaggggaggc tgagccagtg cgagactgaa cttgtgcagc cttagccaag acaaagcagt
     1741 gtttttcagc agacggctga tgggacagga attgaagaag agaattgact cgtatgaaca
     1801 ggacagggtg aaaatgctgg gaattataat gggaaacaaa actatctatg ttcatatttt
     1861 gtaatatttc atttgttaag tttatatctg gatataatgt tctttttaaa caagtataat
     1921 catatcgtcg gaggttaaga ttatgaaatt ttaaaatctc tattcaagat gatgttcact
     1981 ccaaatacac tacagaattt agtcaacatt ttatataatg tttcaataaa tgtttctttc
     2041 aataaagata ctatgtgccc ttcatagtaa taaaatctca atcttaaagc atgaatctaa
     2101 aacataaata tttatattac agactcaatt ttacaaaatt actaattgct ctagtgcata
     2161 tttgaactac aagcaacttt ttaggaatac ctctttatac gtctacatat tttagtatat
     2221 aaaaatagat aatgctcttg gacacatttt gtattattca tgatctgaat agtagttagt
     2281 taaaagatca tttgtaatat tatgatcaac tgttataaat taaggtctta ataccttttc
     2341 tgctctttca aataactcta atgaatattc aagatatttt agccttttaa aaagttgaga
     2401 tttagctcat ggatatattt tttggtaggg aaacattagg gtctcctttt cttcctttta
     2461 cctagaatgc ctcatttaaa agtgccttga aaacatttag ctccccttct tcatgagcat
     2521 ctgtagagct gaaagtattc tggaacttta gacagaaagc tgaaaggaat ctgcagtctc
     2581 ctgctgcagt tcaactctgc tgtttttcag tcatttccta ctgtgagtgg agtgatgttt
     2641 gtgtgtgtgt tggcaacatg cctaatgttt tcttaatgat gacaacaaat attttaaaac
     2701 tgcatttatc attttttagg tcttcattaa attttaaaat gtaatatctg tttcccaccc
     2761 cctacattag gaggataatt tcttaaacca cattgtttta attgattttt cttatcttga
     2821 tttctttcat tagaaactat ccctaaatgt aaagatcttt tgccttcaaa tttggcttat
     2881 tttttctgat ttatgagggt ttgaaagaaa gaattcacct aaaagattcc atttccagtt
     2941 ttataatgta tttcaggttc tgaataacaa tatttttcca aattgaaagt aaatattcaa
     3001 gaagttgata gcctggttaa aagttagatc ctctattacc attctaagca cattcacttc
     3061 tatattgaag ttttggtaaa aattcttttt tcttttttaa taaaaaatta ggttattact
     3121 ttttttataa ccagattttt aaagcactag gttttaaatc agtgggtatc ataaaagcca
     3181 tatataaaag atcctttctt atagtaagac ttgtgcttgt tagcaggttt ttctgttagt
     3241 ttttccccca taacatttaa ttattactaa aattgtattt acaatagtgg tgccaaatca
     3301 aatggtaatt taaataaaat ctattctgtg tttatgtagg gtggtataaa aaagaggtct
     3361 tcatttagac atgtgatttc taaaattcca gaaagcaaaa ttgataagat gttagaaatt
     3421 tggaccgtta tttataatca gggtagcatt aaaatggaga aaagaaagtt ttctgaaaaa
     3481 atgcagtaaa tataagccac atttctaaag tttattttta tgaaagcttc ttttaagatt
     3541 ttgaaatcta ttctgcattc ccaagagttt atgtttattg tattttatat gatctacaac
     3601 atataaaatt gtgtattttt ctttggttgt ccctattaac aaaaaagtat tttaataaaa
     3661 aattgaaatg aaaaaaaaaa aaaaaaaaaa aaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001112. Homo sapiens aden...[gi:4501918] Links  


LOCUS       ADARB1                  3785 bp    mRNA    linear   PRI 19-JAN-2002
DEFINITION  Homo sapiens adenosine deaminase, RNA-specific, B1 (RED1 homolog
            rat) (ADARB1), transcript variant DRADA2a, mRNA.
ACCESSION   NM_001112
VERSION     NM_001112.1  GI:4501918
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3785)
  AUTHORS   Melcher,T., Maas,S., Herb,A., Sprengel,R., Seeburg,P.H. and
            Higuchi,M.
  TITLE     A mammalian RNA editing enzyme
  JOURNAL   Nature 379 (6564), 460-464 (1996)
  MEDLINE   96158881
   PUBMED   8559253
REFERENCE   2  (bases 1 to 3785)
  AUTHORS   O'Connell,M.A., Gerber,A. and Keller,W.
  TITLE     Purification of human double-stranded RNA-specific editase 1
            (hRED1) involved in editing of brain glutamate receptor B pre-mRNA
  JOURNAL   J. Biol. Chem. 272 (1), 473-478 (1997)
  MEDLINE   97150749
   PUBMED   8995285
REFERENCE   3  (bases 1 to 3785)
  AUTHORS   Villard,L., Tassone,F., Haymowicz,M., Welborn,R. and Gardiner,K.
  TITLE     Map location, genomic organization and expression patterns of the
            human RED1 RNA editase
  JOURNAL   Somat. Cell Mol. Genet. 23 (2), 135-145 (1997)
  MEDLINE   97471700
   PUBMED   9330641
REFERENCE   4  (bases 1 to 3785)
  AUTHORS   Mittaz,L., Scott,H.S., Rossier,C., Seeburg,P.H., Higuchi,M. and
            Antonarakis,S.E.
  TITLE     Cloning of a human RNA editing deaminase (ADARB1) of glutamate
            receptors that maps to chromosome 21q22.3
  JOURNAL   Genomics 41 (2), 210-217 (1997)
  MEDLINE   97288518
   PUBMED   9143496
REFERENCE   5  (bases 1 to 3785)
  AUTHORS   Yang,J.H., Sklar,P., Axel,R. and Maniatis,T.
  TITLE     Purification and characterization of a human RNA adenosine
            deaminase for glutamate receptor B pre-mRNA editing
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 94 (9), 4354-4359 (1997)
  MEDLINE   97272227
   PUBMED   9113993
REFERENCE   6  (bases 1 to 3785)
  AUTHORS   Lai,F., Chen,C.X., Carter,K.C. and Nishikura,K.
  TITLE     Editing of glutamate receptor B subunit ion channel RNAs by four
            alternatively spliced DRADA2 double-stranded RNA adenosine
            deaminases
  JOURNAL   Mol. Cell. Biol. 17 (5), 2413-2424 (1997)
  MEDLINE   97265373
   PUBMED   9111310
REFERENCE   7  (bases 1 to 3785)
  AUTHORS   Gerber,A., O'Connell,M.A. and Keller,W.
  TITLE     Two forms of human double-stranded RNA-specific editase 1 (hRED1)
            generated by the insertion of an Alu cassette
  JOURNAL   RNA 3 (5), 453-463 (1997)
  MEDLINE   97293174
   PUBMED   9149227
REFERENCE   8  (bases 1 to 3785)
  AUTHORS   Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS,
            Toyoda A, Ishii K, Totoki Y, Choi DK, Soeda E, Ohki M, Takagi T,
            Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J,
            Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M
            and Schudy A.
  TITLE     The DNA sequence of human chromosome 21
  JOURNAL   Nature 405 (6784), 311-319 (2000)
  MEDLINE   20289799
   PUBMED   10830953
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U76420.1.
            Summary: This gene encodes the enzyme responsible for pre-mRNA
            editing of the glutamate receptor subunit B by site-specific
            deamination of adenosines.  Alternative splicing of this gene
            results in several transcript variants, three which have been
            characterized by the presence or absence of an ALU cassette insert
            and a short or long C-terminal region.
            Transcript Variant: Transcript variant DRADA2a lacks the ALU
            cassette insert but contains the long C-terminal region, as
            compared to the full-length variant DRADA2b.
FEATURES             Location/Qualifiers
     source          1..3785
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..3785
                     /gene="ADARB1"
                     /note="RED1; ADAR2; DRADA2; DRABA2"
                     /db_xref="LocusID:104"
                     /db_xref="MIM:601218"
     CDS             414..2519
                     /gene="ADARB1"
                     /note="Isoform DRADA2a is encoded by transcript variant
                     DRADA2a; RNA editase; human dsRNA adenosine deaminase
                     DRADA2b"
                     /codon_start=1
                     /product="RNA-specific adenosine deaminase  B1, isoform
                     DRADA2a"
                     /protein_id="NP_001103.1"
                     /db_xref="GI:4501919"
                     /db_xref="LocusID:104"
                     /db_xref="MIM:601218"
                     /translation="MDIEDEENMSSSSTDVKENRNLDNVSPKDGSTPGPGEGSQLSNG
                     GGGGPGRKRPLEEGSNGHSKYRLKKRRKTPGPVLPKNALMQLNEIKPGLQYTLLSQTG
                     PVHAPLFVMSVEVNGQVFEGSGPTKKKAKLHAAEKALRSFVQFPNASEAHLAMGRTLS
                     VNTDFTSDQADFPDTLFNGFETPDKAEPPFYVGSNGDDSFSSSGDLSLSASPVPASLA
                     QPPLPVLPPFPPPSGKNPVMILNELRPGLKYDFLSESGESHAKSFVMSVVVDGQFFEG
                     SGRNKKLAKARAAQSALAAIFNLHLDQTPSRQPIPSEGLQLHLPQVLADAVSRLVLGK
                     FGDLTDNFSSPHARRKVLAGVVMTTGTDVKDAKVISVSTGTKCINGEYMSDRGLALND
                     CHAEIISRRSLLRFLYTQLELYLNNKDDQKRSIFQKSERGGFRLKENVQFHLYISTSP
                     CGDARIFSPHEPILEEPADRHPNRKARGQLRTKIESGEGTIPVRSNASIQTWDGVLQG
                     ERLLTMSCSDKIARWNVVGIQGSLLSIFVEPIYFSSIILGSLYHGDHLSRAMYQRISN
                     IEDLPPLYTLNKPLLSGISNAEARQPGKAPNFSVNWTVGDSAIEVINATTGKDELGRA
                     SRLCKHALYCRWMRVHGKVPSHLLRSKITKPNVYHESKLAAKEYQAAKARLFTAFIKA
                     GLGAWVEKPTEQDQFSLTP"
     misc_feature    648..791
                     /gene="ADARB1"
                     /note="dsrm; Region: Double-stranded RNA binding motif"
                     /db_xref="CDD:pfam00035"
     misc_feature    648..791
                     /gene="ADARB1"
                     /note="DSRM; Region: Double-stranded RNA binding motif"
                     /db_xref="CDD:smart00358"
     misc_feature    1119..1253
                     /gene="ADARB1"
                     /note="dsrm; Region: Double-stranded RNA binding motif"
                     /db_xref="CDD:pfam00035"
     misc_feature    1119..1253
                     /gene="ADARB1"
                     /note="DSRM; Region: Double-stranded RNA binding motif"
                     /db_xref="CDD:smart00358"
     misc_feature    1377..2504
                     /gene="ADARB1"
                     /note="ADEAMc; Region: tRNA-specific and double-stranded
                     RNA adenosine deaminase (RNA-specific editase)"
                     /db_xref="CDD:smart00552"
     misc_feature    1521..2492
                     /gene="ADARB1"
                     /note="A_deamin; Region: Adenosine-deaminase (editase)
                     domain"
                     /db_xref="CDD:pfam02137"
     misc_feature    2427..2516
                     /gene="ADARB1"
                     /note="Region: long C-terminal region"
     variation       641
                     /gene="ADARB1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2838798"
     variation       2375
                     /gene="ADARB1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3191756"
     variation       2375
                     /gene="ADARB1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051367"
     variation       2807
                     /gene="ADARB1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3191757"
     variation       3171
                     /gene="ADARB1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2253763"
BASE COUNT      900 a   1013 c   1060 g    812 t
ORIGIN      
        1 gcggcggcgg cggcggcggc ggcagcggcg gccaagcggc caggttggcg gccggggctc
       61 cgggccgcgc gaggccacgg ccacgccgcg ccgctgcgca caaccaacga ggcagagcgc
      121 cgcccggcgc gagactgcgg ccgaagcgtg gggcgcgcgt gcggaggacc aggcgcggcg
      181 cggctgcggc tgagagtgga gcctttcagg ctggcatgga gagcttaagg ggcaactgaa
      241 ggagacacac tggccaagcg cggagttctg cttacttcag tcctgctgag atactctctc
      301 agtccgctcg caccgaagga agctgccttg ggatcagagc agacataaag ctagaaaaat
      361 ttcaagacag aaacagtctc cgccagtcaa gaaaccctca aaagtatttt gccatggata
      421 tagaagatga agaaaacatg agttccagca gcactgatgt gaaggaaaac cgcaatctgg
      481 acaacgtgtc ccccaaggat ggcagcacac ctgggcctgg cgagggctct cagctctcca
      541 atgggggtgg tggtggcccc ggcagaaagc ggcccctgga ggagggcagc aatggccact
      601 ccaagtaccg cctgaagaaa aggaggaaaa caccagggcc cgtcctcccc aagaacgccc
      661 tgatgcagct gaatgagatc aagcctggtt tgcagtacac actcctgtcc cagactgggc
      721 ccgtgcacgc gcctttgttt gtcatgtctg tggaggtgaa tggccaggtt tttgagggct
      781 ctggtcccac aaagaaaaag gcaaaactcc atgctgctga gaaggccttg aggtctttcg
      841 ttcagtttcc taatgcctct gaggcccacc tggccatggg gaggaccctg tctgtcaaca
      901 cggacttcac atctgaccag gccgacttcc ctgacacgct cttcaatggt tttgaaactc
      961 ctgacaaggc ggagcctccc ttttacgtgg gctccaatgg ggatgactcc ttcagttcca
     1021 gcggggacct cagcttgtct gcttccccgg tgcctgccag cctagcccag cctcctctcc
     1081 ctgtcttacc accattccca cccccgagtg ggaagaatcc cgtgatgatc ttgaacgaac
     1141 tgcgcccagg actcaagtat gacttcctct ccgagagcgg ggagagccat gccaagagct
     1201 tcgtcatgtc tgtggtcgtg gatggtcagt tctttgaagg ctcggggaga aacaagaagc
     1261 ttgccaaggc ccgggctgcg cagtctgccc tggccgccat ttttaacttg cacttggatc
     1321 agacgccatc tcgccagcct attcccagtg agggtcttca gctgcattta ccgcaggttt
     1381 tagctgacgc tgtctcacgc ctggtcctgg gtaagtttgg tgacctgacc gacaacttct
     1441 cctcccctca cgctcgcaga aaagtgctgg ctggagtcgt catgacaaca ggcacagatg
     1501 ttaaagatgc caaggtgata agtgtttcta caggaacaaa atgtattaat ggtgaataca
     1561 tgagtgatcg tggccttgca ttaaatgact gccatgcaga aataatatct cggagatcct
     1621 tgctcagatt tctttataca caacttgagc tttacttaaa taacaaagat gatcaaaaaa
     1681 gatccatctt tcagaaatca gagcgagggg ggtttaggct gaaggagaat gtccagtttc
     1741 atctgtacat cagcacctct ccctgtggag atgccagaat cttctcacca catgagccaa
     1801 tcctggaaga accagcagat agacacccaa atcgtaaagc aagaggacag ctacggacca
     1861 aaatagagtc tggtgagggg acgattccag tgcgctccaa tgcgagcatc caaacgtggg
     1921 acggggtgct gcaaggggag cggctgctca ccatgtcctg cagtgacaag attgcacgct
     1981 ggaacgtggt gggcatccag ggatccctgc tcagcatttt cgtggagccc atttacttct
     2041 cgagcatcat cctgggcagc ctttaccacg gggaccacct ttccagggcc atgtaccagc
     2101 ggatctccaa catagaggac ctgccacctc tctacaccct caacaagcct ttgctcagtg
     2161 gcatcagcaa tgcagaagca cggcagccag ggaaggcccc caacttcagt gtcaactgga
     2221 cggtaggcga ctccgctatt gaggtcatca acgccacgac tgggaaggat gagctgggcc
     2281 gcgcgtcccg cctgtgtaag cacgcgttgt actgtcgctg gatgcgtgtg cacggcaagg
     2341 ttccctccca cttactacgc tccaagatta ccaagcccaa cgtgtaccat gagtccaagc
     2401 tggcggcaaa ggagtaccag gccgccaagg cgcgtctgtt cacagccttc atcaaggcgg
     2461 ggctgggggc ctgggtggag aagcccaccg agcaggacca gttctcactc acgccctgac
     2521 ccgggcagac atgatggggg gtgcaggggg ctgtgggcat ccagcgtcat cctccagaac
     2581 ctcacatctg aactgggggc aggtgcatac cttggggagg gagtaggggg acacggggga
     2641 ccaccaggtg tccacggttg tccccagcat ctcacatcag acctggggca ggtgcgcagt
     2701 gtggggaggg gatggggtgc gtcagggccc agcatcgccg cctggcatct ctctgccgca
     2761 gcatttcccc ttctgaaccg tccagtgact gctttcaatc tcggtttacg tttagaaatt
     2821 gagttctact gagtagggct tccttaagtt taggaaaata gaaattactt tgtgtgaaat
     2881 tcttgaataa ataatttatt cagagctagg aatgtggttt ataaaatagg aagtaattgt
     2941 gtcaggtcac ttttatgcca cattatttta attgcaaaaa agcatctata tatggaggag
     3001 ggtgggaaaa tagaggtagg aaatagtagc ctaaaggaaa tcgccacacg tctgtctaaa
     3061 cttaggtctc ttttctccgt aggtacctcc ctgggtagtt ccacacacta ggttgtaaca
     3121 gtctctccct gaggagcaga ctcccagcat ggtgtagcgt ggccctgtca tgcacatggg
     3181 gtcccgcagc agtgactgtg tgtcctgcag aggcgtgacc caggcccctg tagccctcag
     3241 cctcctctag aagcttctgt actccttgta ggatcagatc atggaaaact tttctcagtt
     3301 tacttctaag taatcacaga taatacatgg ccagtaatcc caggctggcc attcattcag
     3361 gttttttaaa ggatatttaa cttttatgga ctagaaggaa tcacgagggc tactgcacaa
     3421 tacatggcct aagttccctc tgttccttcc tctgaatcga atggatgtgg gtgaccgccc
     3481 gaaggccttc acaggatgga agtagaatga tttcagtaga tactcattct tggaaaatgc
     3541 catagtttta aattattgtt tccagcttta tcaaagacat gtttgaaaaa taaaaagcat
     3601 ccaagtgaga gctggtgaga ccacgtgctg ctggcgtagt gtaggccaga cattgacagt
     3661 cctgacggga gctcagggct gcccagcgcc cagcgtgcac gggacggccc cacgacagag
     3721 ggagtcagcc cgggaggtca ggagcgcggc gggcgagggc cctgtgtgga ccacctccac
     3781 caagc
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  



&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_015429. Homo sapiens DKFZ...[gi:14149685] Links  


LOCUS       NESHBP                  3023 bp    mRNA    linear   PRI 28-SEP-2001
DEFINITION  Homo sapiens DKFZP586L2024 protein (NESHBP), mRNA.
ACCESSION   NM_015429
VERSION     NM_015429.1  GI:14149685
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3023)
  AUTHORS   Matsuda,S., Iriyama,C., Yokozaki,S., Ichigotani,Y., Shirafuji,N.,
            Yamaki,K., Hayakawa,T. and Hamaguchi,M.
  TITLE     Cloning and sequencing of a novel human gene that encodes a
            putative target protein of Nesh-SH3
  JOURNAL   J. Hum. Genet. 46 (8), 483-486 (2001)
  MEDLINE   21392857
   PUBMED   11501947
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AB056106.1.
FEATURES             Location/Qualifiers
     source          1..3023
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q12"
                     /tissue_type="placenta"
     gene            1..3023
                     /gene="NESHBP"
                     /note="DKFZP586L2024; TARSH"
                     /db_xref="LocusID:25890"
                     /db_xref="MIM:606279"
     CDS             364..1824
                     /gene="NESHBP"
                     /standard_name="Nesh binding Protein"
                     /note="target of Nesh-SH3"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="DKFZP586L2024 protein"
                     /protein_id="NP_056244.1"
                     /db_xref="GI:14149686"
                     /db_xref="LocusID:25890"
                     /db_xref="MIM:606279"
                     /translation="MISPSPSQEELQTTLEETDQSTQEPFTTKIPRTTELAKTTQAPH
                     RFYTTVRPRTSDKPHIRPVLNRTTTRPTRPKPSGMPSGNGVGTGVKQAPRPSGADRNV
                     SVDSTHPTKKPGTRRPPLPPRPTHPRRKPLPPNNVTGKPGSAGIISSGPITTPPLRST
                     PRPTGTPLERIETDIKQPTVPASGEELENITDFSSSPTRETDPLGKPRFKGPHVRYIQ
                     KPDNSPCSITDSVKRFPKEEATEGNATSPPQNPPTNLTVVTVEGCPSFVILDWEKPLN
                     DTVTEYEVISRENGSFSGKNKSIQMTNQTFSTVENLKPNTSYEFQVKPKNPLGEGPVS
                     NTVAFSTESADPRVSEPVSAGRDAIWTERPFNSDSYSECKGKQYVKRTWYKKFVGVQL
                     CNSLRYKIYLSDSLTGKFYNIGDQRGHGEDHCQFVDSFLDGRTGQQLTSDQLPIKEGY
                     FRAVRQEPVQFGEIGGHTQINYVQWYECGTTIPGKW"
     misc_feature    1114..1365
                     /gene="NESHBP"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     misc_feature    1114..1341
                     /gene="NESHBP"
                     /note="FN3; Region: Fibronectin type 3 domain"
                     /db_xref="CDD:smart00060"
     variation       2663
                     /gene="NESHBP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1048364"
     variation       2755..2756
                     /gene="NESHBP"
                     /allele="-"
                     /allele="AACT"
                     /db_xref="dbSNP:16334"
     polyA_site      2981
                     /gene="NESHBP"
                     /note="42 a nucleotides"
BASE COUNT     1026 a    653 c    518 g    826 t
ORIGIN      
        1 ccatttaatg tatagtttat ttctaggttt tccttctgtg tttttagaca ctgaaatgcc
       61 taaatattga tttgtttatt attttgtttc tttatttttc cagctcccgg taaaacacaa
      121 tttatttctc tgaaacctaa aatccctctc agcccagaag tgacacacac caaacctgct
      181 cccaagcaga caccacgtgc tcctcctaag ccaaaaacat caccacgccc aagaatccca
      241 caaacacaac cagttcctaa ggtgccccag cgtgttactg caaaaccaaa aacgtcacca
      301 agtccagaag tgtcatacac cacacctgct cctctagaga cacgaggcat cccttttata
      361 cccatgattt ccccaagtcc tagtcaagag gaactacaga ccactctgga agaaacagac
      421 caatccaccc aagaaccttt cacaactaag attccacgaa caactgaact agcaaagaca
      481 actcaggcgc cacacagatt ttatactact gtgaggccca gaacatctga caagccacac
      541 atcagacctg ttctgaatag gacaactaca agacctacta ggcccaaacc cagtgggatg
      601 cccagtggga atggagtggg aacaggggtc aagcaagcac ccaggccatc aggtgctgat
      661 agaaatgtat cagtggactc tacccacccc actaaaaagc cagggactcg ccgcccaccc
      721 ttgccaccca gacctacaca cccacgaaga aaacctttac caccaaataa tgtcactgga
      781 aagccaggaa gtgcaggaat catttcatca ggcccaataa ctacaccacc cctgaggtca
      841 acacccaggc ctactggaac tcccttggag agaatagaga cagatataaa gcaaccaaca
      901 gttcctgcct ctggagaaga actggaaaat ataactgact ttagctcaag cccaacaaga
      961 gaaactgatc ctcttgggaa gccaagattc aaaggacctc atgtgcgata catccaaaag
     1021 cctgacaaca gtccctgctc cattactgac tctgtcaaac ggttccccaa agaggaggcc
     1081 acagagggga atgccaccag cccaccacag aacccaccca ccaacctcac tgtggtcacc
     1141 gtggaagggt gcccctcatt tgtcatcttg gactgggaaa agccactaaa tgacactgtc
     1201 actgaatatg aagttatatc cagagaaaat gggtcattca gtgggaagaa caagtccatt
     1261 caaatgacaa atcagacatt ttccacagta gaaaatctga aaccaaacac gagttatgaa
     1321 ttccaggtga aacccaaaaa cccacttggt gaaggcccgg tcagcaacac agtggcattc
     1381 agtactgaat cagcggaccc aagagtgagt gagccagttt ctgcaggaag agatgccatc
     1441 tggactgaaa gaccctttaa ttcagactct tactcagagt gtaagggcaa acaatatgtc
     1501 aaaaggacat ggtataaaaa atttgtagga gtgcagctgt gcaactctct cagatacaag
     1561 atttacttga gcgactccct cacaggaaaa ttttataaca taggtgatca gaggggccat
     1621 ggagaagatc actgccagtt tgtggattca tttttagatg gacgcactgg gcagcaactc
     1681 acttctgacc agttaccaat caaagaaggt tatttcagag cagttcgcca ggaacctgtc
     1741 caatttggag aaataggtgg tcacacccaa atcaattatg ttcagtggta tgaatgtggg
     1801 actacaattc ctggaaaatg gtagatgctg cacaaagtta ccttctgttt catcattgca
     1861 aacaaaaatc attgaaaata ctatgccgca ttcatttaaa gctattttgt ttactatgta
     1921 taaaagtcta caatctaatt aatagcaata ctagatgttt attattagaa aagattgctg
     1981 agagtattta tcaggtttta caaagtcatt ttaagaaagc aagatactga tgttaacaga
     2041 ataacatttt tggggaagct ggctccctat tcatggtatt ttaagagatc atttgtatat
     2101 tatttatcac actgttgtaa tgatgttttg agatactttt ataacaaaat taacatcaaa
     2161 aaggtatata ctttttaaaa aaaatttact tttattgatg tgtactcttc ctattgatga
     2221 gttaattcca taaatctcta cttagtttaa cttattggat caaattatct tcagcatgta
     2281 tatctgggga aaaaaggtcc gaattttcac atttatattt aaacttcaat tttttatatt
     2341 taaacttcaa ttttttagca acagctgaat agctttgcgg aggagtttaa tagttacaca
     2401 ttcatgctaa tatacatttc ctttaaacat ccacaaattc ttaaaaagat tgaatcagta
     2461 aatttcattt cagctaaaaa tggagtctaa tatattgttt caaaagatac atttttaccc
     2521 accataaatg ttacaatatc tgaatatgct ttgtcaaact atccctttat gcaatcgtct
     2581 tcatattgtt tttatgattc taatcaagct gtatgtagag actgaatgtg aagtcaagtc
     2641 tgagcacaaa aagataatgc acgatgagat tgcctaccat tttataggat atttactatg
     2701 tatttatacg ttaagacctc tatgaatgaa tgtatcagag aatgtctttg taactgttta
     2761 attcaatctg taataaaaat ctaactaact aactcattta tttctattaa aaaggtattg
     2821 tcctttaggc ggggaatggg aatccttgct gcactgttgc agtcattctg aaaggacctt
     2881 tccctgtact tacctttcaa catgcttcaa tcttatcaac gctacatttt gtatttttca
     2941 aacaagtata aattctgcaa taaagagatg tagttttttt taaaaaaaaa aaaaaaaaaa
     3001 aaaaaaaaaa aaaaaaaaaa aaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002541. Homo sapiens oxog...[gi:4505492] Links  


LOCUS       OGDH                    4122 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase
            (lipoamide) (OGDH), mRNA.
ACCESSION   NM_002541
VERSION     NM_002541.1  GI:4505492
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Koike,K., Urata,Y. and Goto,S.
  TITLE     Cloning and nucleotide sequence of the cDNA encoding human
            2-oxoglutarate dehydrogenase (lipoamide)
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 89 (5), 1963-1967 (1992)
  MEDLINE   92179301
REFERENCE   2  (bases 1 to 4122)
  AUTHORS   Szabo,P., Cai,X., Ali,G. and Blass,J.P.
  TITLE     Localization of the gene (OGDH) coding for the E1k component of the
            alpha-ketoglutarate dehydrogenase complex to chromosome 7p13-p11.2
  JOURNAL   Genomics 20 (2), 324-326 (1994)
  MEDLINE   94292223
   PUBMED   8020988
REFERENCE   3  (sites)
  AUTHORS   Koike,K.
  TITLE     The gene encoding human 2-oxoglutarate dehydrogenase: structural
            organization and mapping to chromosome 7p13-p14
  JOURNAL   Gene 159 (2), 261-266 (1995)
  MEDLINE   95347609
REFERENCE   4  (bases 1 to 4122)
  AUTHORS   Koike,K.
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from D10523.1.
FEATURES             Location/Qualifiers
     source          1..4122
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14-p13"
                     /clone_lib="lamda gt11"
     gene            1..4122
                     /gene="OGDH"
                     /db_xref="LocusID:4967"
                     /db_xref="MIM:203740"
     old_sequence    39
                     /gene="OGDH"
                     /citation=[1]
                     /replace="g"
     CDS             58..3066
                     /gene="OGDH"
                     /EC_number="1.2.4.2"
                     /note="oxoglutarate dehydrogenase (lipoamide)"
                     /codon_start=1
                     /product="oxoglutarate (alpha-ketoglutarate) dehydrogenase
                     (lipoamide)"
                     /protein_id="NP_002532.1"
                     /db_xref="GI:4505493"
                     /db_xref="LocusID:4967"
                     /db_xref="MIM:203740"
                     /translation="MFHLRTCAAKLRPLTASQTVKTFSQNRPAAARTFQQIRCYSAPV
                     AAEPFLSGTSSNYVEEMYCAWLENPKSVHKSWDIFFRNTNAGAPPGTAYQSPLPLSRG
                     SLAAVAHAQSLVEAQPNVDKLVEDHLAVQSLIRAYQIRGHHVAQLDPLGILDADLDSS
                     VPADIISSTDKLGFYGLDESDLDKVFHLPTTTFIGGQESALPLREIIRRLEMAYCQHI
                     GVEFMFINDLEQCQWIRQKFETPGIMQFTNEEKRTLLARLVRSTRFEEFLQRKWSSEK
                     RFGLEGCEVLIPALKTIIDKSSENGVDYVIMGMPHRGRLNVLANVIRKELEQIFCQFD
                     SKLEAADEGSGDVKYHLGMYHRRINRVTDRNITLSLVANPSHLEAADPVVMGKTKAEQ
                     FYCGDTEGKKVMSILLHGDAAFAGQGIVYETFHLSDLPSYTTHGTVHVVVNNQIGFTT
                     DPRMARSSPYPTDVARVVNAPIFHVNSDDPEAVMYVCKVAAEWRSTFHKDVVVDLVCY
                     RRNGHNEMDEPMFTQPLMYKQIRKQKPVLQKYAELLVSQGVVNQPEYEEEISKYDKIC
                     EEAFARSKDEKILHIKHWLDSPWPGFFTLDGQPRSMSCPSTGLTEDILTHIGNVASSV
                     PVENFTIHGGLSRILKTRGEMVKNRTVDWALAEYMAFGSLLKEGIHIRLSGQDVERGT
                     FSHRHHVLHDQNVDKRTCIPMNHLWPNQAPYTVCNSSLSEYGVLGFEAGLRMASPNAL
                     VLWEAQFGDFHNTAQCIIDQFICPGQAKWVRQNGIVLLLPHGMEGMGPEHSSARPERF
                     LQMCNDDPDVLPDLKEANFDINQLYDCNWVVVNCSTPGNFFHVLRRQILLPFRKPLII
                     FTPKSLLRHPEARSSFDEMLPGTHFQRVIPEDGPAAQNPENVKRLLFCTGKVYYDLTR
                     ERKARDMVGQVAITRIEQLSPFPFDLLLKEVQKYPNAELAWCQEEHKNQGYYDYVKPR
                     LRTTISRAKPVWYAGRNPAAAPATGNKKTH"
     sig_peptide     58..177
                     /gene="OGDH"
     mat_peptide     178..3063
                     /gene="OGDH"
                     /product="2-oxoglutarate dehydrogenase"
                     /EC_number="1.2.4.2"
     misc_feature    823..1803
                     /gene="OGDH"
                     /note="Region: pfam00676, E1_dehydrog, Dehydrogenase E1
                     component. This family uses thiamine pyrophosphate as a
                     cofactor. This family includes pyruvate dehydrogenase,
                     2-oxoglutarate dehydrogenase and 2-oxoisovalerate
                     dehydrogenase"
     misc_feature    2002..2649
                     /gene="OGDH"
                     /note="Region: pfam02779, transket_pyr, Transketolase,
                     pyridine binding domain. This family includes
                     transketolase enzymes, pyruvate dehydrogenases, and
                     branched chain alpha-keto acid decarboxylases"
     variation       221
                     /gene="OGDH"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230445"
     old_sequence    322
                     /gene="OGDH"
                     /citation=[1]
                     /replace=""
     old_sequence    325
                     /gene="OGDH"
                     /citation=[1]
                     /replace=""
     old_sequence    332
                     /gene="OGDH"
                     /citation=[1]
                     /replace=""
     old_sequence    350
                     /gene="OGDH"
                     /citation=[1]
                     /replace=""
     old_sequence    538..540
                     /gene="OGDH"
                     /citation=[1]
                     /replace="tgc"
     old_sequence    627
                     /gene="OGDH"
                     /citation=[1]
                     /replace="c"
     variation       1042
                     /gene="OGDH"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3208708"
     old_sequence    1087
                     /gene="OGDH"
                     /citation=[1]
                     /replace="g"
     old_sequence    1149
                     /gene="OGDH"
                     /citation=[1]
                     /replace="c"
     variation       1207
                     /gene="OGDH"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3208709"
     variation       1540
                     /gene="OGDH"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2230446"
     old_sequence    2247
                     /gene="OGDH"
                     /citation=[1]
                     /replace="a"
     old_sequence    2403..2404
                     /gene="OGDH"
                     /citation=[1]
                     /replace="ta"
     old_sequence    2440
                     /gene="OGDH"
                     /citation=[1]
                     /replace="g"
     old_sequence    2452
                     /gene="OGDH"
                     /citation=[1]
                     /replace="g"
     old_sequence    2779
                     /gene="OGDH"
                     /citation=[1]
                     /replace="g"
     old_sequence    2857..2858
                     /gene="OGDH"
                     /citation=[1]
                     /replace="cg"
     variation       3006
                     /gene="OGDH"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3198550"
     variation       3006
                     /gene="OGDH"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1135689"
     variation       3022
                     /gene="OGDH"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1135690"
     old_sequence    3026
                     /gene="OGDH"
                     /citation=[1]
                     /replace="g"
     old_sequence    3044..3045
                     /gene="OGDH"
                     /citation=[1]
                     /replace="cg"
     variation       3108
                     /gene="OGDH"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2070607"
     old_sequence    3152..3153
                     /gene="OGDH"
                     /citation=[1]
                     /replace=""
     old_sequence    3209
                     /gene="OGDH"
                     /citation=[1]
                     /replace="t"
     variation       3229
                     /gene="OGDH"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1057984"
     old_sequence    3231..3232
                     /gene="OGDH"
                     /citation=[1]
                     /replace="cc"
     old_sequence    3425
                     /gene="OGDH"
                     /citation=[1]
                     /replace="c"
     variation       3433
                     /gene="OGDH"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:14239"
     old_sequence    3435
                     /gene="OGDH"
                     /citation=[1]
                     /replace="a"
     old_sequence    3590..3595
                     /gene="OGDH"
                     /citation=[1]
                     /replace="ggagtc"
     old_sequence    3614
                     /gene="OGDH"
                     /citation=[1]
                     /replace="g"
     old_sequence    3620..3623
                     /gene="OGDH"
                     /citation=[1]
                     /replace="ggag"
     old_sequence    3663
                     /gene="OGDH"
                     /citation=[1]
                     /replace="a"
     old_sequence    3671
                     /gene="OGDH"
                     /citation=[1]
                     /replace="g"
     old_sequence    3674
                     /gene="OGDH"
                     /citation=[1]
                     /replace="g"
     old_sequence    3684
                     /gene="OGDH"
                     /citation=[1]
                     /replace="c"
     old_sequence    3688..3689
                     /gene="OGDH"
                     /citation=[1]
                     /replace="tg"
     old_sequence    3710
                     /gene="OGDH"
                     /citation=[1]
                     /replace="a"
     variation       3859
                     /gene="OGDH"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:12868"
     variation       3980
                     /gene="OGDH"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1058128"
     old_sequence    4066
                     /gene="OGDH"
                     /citation=[1]
                     /replace=""
     old_sequence    4078..4089
                     /gene="OGDH"
                     /citation=[1]
                     /replace=""
     polyA_site      4122
                     /gene="OGDH"
BASE COUNT      895 a   1196 c   1142 g    889 t
ORIGIN      
        1 cgggttcggg tggagctgag ccggagacag gcaattgtga aaaacttcag gacaaaaatg
       61 tttcatttaa ggacttgtgc tgctaagttg aggccattga cggcttccca gactgttaag
      121 acattttcac aaaacagacc agcagcagct aggacatttc aacagattcg gtgctattct
      181 gcacctgttg ctgctgagcc ctttctcagt gggactagtt cgaactatgt ggaggagatg
      241 tactgtgctt ggctggaaaa ccccaaaagt gtacataagt catgggacat tttttttcgc
      301 aacacgaatg ccggagcccc accgggcact gcctaccaga gtccccttcc cctgagccga
      361 ggctccctgg ctgctgtggc ccatgcacag tccctggtag aagcacagcc caacgtggac
      421 aagctcgtgg aggaccacct ggcagtgcag tcactcatca gggcatatca gatacgaggg
      481 caccatgtag cacagctgga ccccctgggg attttggatg ctgatctgga ctcctccgtg
      541 cccgctgaca ttatctcatc cacagacaaa cttgggttct atggcctgga tgagtctgac
      601 ctcgacaagg tcttccactt gcccaccacc actttcatcg ggggacagga atcagcactt
      661 cctctgcggg agatcatccg tcggctggag atggcctact gccagcatat tggggtggag
      721 ttcatgttca tcaatgacct ggagcagtgc cagtggatcc ggcagaagtt tgagacccct
      781 gggatcatgc agttcacaaa tgaggagaaa cggaccctgc tggccaggct tgtgcggtcc
      841 accaggtttg aggagttcct acagcggaag tggtcctctg agaagcgctt tggtctagaa
      901 ggctgcgagg tactgatccc tgccctcaag accatcattg acaagtctag tgagaatggc
      961 gtggactacg tgatcatggg catgccacac agagggcggc tgaacgtgct tgcaaatgtc
     1021 atcaggaagg agctggaaca gatcttctgt caattcgatt caaagctgga ggcagctgat
     1081 gagggctccg gagatgtgaa gtaccacctg ggcatgtatc accgcaggat caatcgtgtc
     1141 accgacagga acattacctt gtccttggtg gccaaccctt cccaccttga ggccgctgac
     1201 cccgtggtga tgggcaagac caaagccgaa cagttttact gtggcgacac tgaagggaaa
     1261 aaggtcatgt ccatcctgtt gcatggggat gctgcatttg ctggccaggg cattgtgtac
     1321 gagaccttcc acctcagcga cctgccatcc tacacaactc atggcaccgt gcacgtggtc
     1381 gtcaacaacc agatcggctt caccaccgac cctcggatgg cccgctcctc cccctacccc
     1441 actgacgtgg cccgagtggt gaatgccccc attttccacg tgaactcaga tgaccccgag
     1501 gctgtcatgt acgtgtgcaa agtggcggcc gagtggagga gcaccttcca caaggacgtg
     1561 gttgtcgatt tggtgtgtta ccggcgcaac ggccacaacg agatggatga gcccatgttc
     1621 acgcagccgc tcatgtacaa gcagatccgc aagcagaagc ctgtgttaca gaagtacgct
     1681 gagctgctgg tgtcgcaggg tgtggtcaac cagcctgagt atgaggagga aatttccaag
     1741 tatgataaga tctgtgagga agcttttgcc agatctaaag atgagaagat cttgcacatt
     1801 aagcactggc tggactctcc ctggcctggc ttcttcaccc tggacgggca gcccaggagc
     1861 atgtcctgcc cctccacggg tctgacggag gatattctga cacacatcgg gaatgtggct
     1921 agttctgtgc ctgtggaaaa ctttactatt catggagggc tgagccggat cttgaagact
     1981 cgtggggaaa tggtgaagaa ccggactgtg gactgggctc tagcggagta catggcgttt
     2041 ggctcgctcc tgaaggaggg catccacatt cggctgagcg gccaggacgt ggagcggggc
     2101 acattcagcc accgccacca tgtgctccat gaccagaatg tggacaagag aacctgcatc
     2161 cccatgaacc atctctggcc caatcaggcc ccctatactg tgtgcaacag ctcactgtct
     2221 gagtacggcg tgctgggctt tgaagctggg cttcgcatgg ccagtcctaa tgccctggtc
     2281 ctctgggaag cccaatttgg tgacttccac aacacggccc agtgtatcat cgaccagttc
     2341 atctgcccgg gacaagccaa gtgggtgcgg cagaatggca tcgtgttgct gctgccccat
     2401 ggcatggagg gcatgggtcc agaacattcc tccgcccgcc cagagcggtt cttgcagatg
     2461 tgcaacgatg acccagatgt cctgccagac cttaaagaag ccaacttcga catcaatcag
     2521 ctatatgact gcaattgggt tgttgtcaac tgctccactc ctggcaactt cttccacgtg
     2581 ctacgacgcc agatcctgct gccattccgg aagccgttaa ttatcttcac ccccaaatcc
     2641 ctgttgcgcc accccgaggc cagatccagc tttgatgaga tgcttccagg aacccacttc
     2701 cagcgggtga tcccagaaga tggccctgca gctcagaacc cagaaaatgt caaaaggctt
     2761 ctcttctgca ccggcaaagt gtattatgac ctcacccggg agcgcaaagc acgcgacatg
     2821 gtggggcagg tggccatcac aaggattgag cagctgtcgc cattcccctt tgacctcctg
     2881 ctgaaggagg tgcagaagta ccccaatgct gagctggcct ggtgccagga ggagcacaag
     2941 aaccaaggct actatgacta cgtgaagcca agacttcgga ccaccatcag ccgcgccaag
     3001 cccgtctggt atgccggccg gaacccagcg gctgctccag ccaccggcaa caagaagacc
     3061 cactgacgga gctgcagcgc ctcctggaca cggccttcga cctggacgtc ttcaagaact
     3121 tctcgtagat gctgcctagg gttgcttggg ccactgccct ctccacaccc atgactgccc
     3181 cttgcttctc aactaaagaa tagtgcctca gcgctgccca caccaccgtc ctcctcgctg
     3241 tgccaccacc cctccctctg ctctcatagg agttaggctg tcgtccccct ccagtgcttg
     3301 gctgccccac aggccacacg ctgcccaggc tctgctgact tctgagcagt tttccaggag
     3361 gccgggggga gcaggaggag gaaaggtagc ccccgaggga tgtccttggg gaggggtcag
     3421 ctctggcccc aatcctcccc accagtctca cccactagga taggaactgg gccttgtgtg
     3481 ctggcttccg ctgtcaccca gcaaggcaca ggctcctgta tttgagacta ggatagcttc
     3541 atcttgagcc tgagccttag aatctgtaga ggagcctgga gtcggatcta gccatggctg
     3601 gcagaggttt ctagggtggg ccccagccgt ggcgtgaact gaggatgacc cggggcagct
     3661 ggcaggagag agccttggcc tgacctggca cagaaagggc agcttcagtc tctgcagtgt
     3721 ccattatctg ctgttccttc gagggttcca ggctgtgtgt ggggcccaag catgccccac
     3781 ccaccctcct gggcccaggc agcacctgga gcccacagag tctgtgtgta gccaggaagc
     3841 cccgctcagg tagccaccgc cggggcactg gctgctctgt cttggtcctg ttaaccctcc
     3901 acctcctctc ttggactccc tccccacccc aaccactctt tctttctcct ttaacccaat
     3961 ggagactttc tgatgcatcg ttttctttgc tgtgccaaag caggtcagaa gagggagagg
     4021 aggggctggg ggtgaggggc caggccatgg ccaaggggcc agctgcccct catttatcac
     4081 tctgaccttc acagggacag atctgattta tttattttgg tt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_016308. Homo sapiens UMP-...[gi:7706496] Links  


LOCUS       UMP-CMPK                2836 bp    mRNA    linear   PRI 28-AUG-2001
DEFINITION  Homo sapiens UMP-CMP kinase (UMP-CMPK), mRNA.
ACCESSION   NM_016308
VERSION     NM_016308.1  GI:7706496
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2836)
  AUTHORS   Van Rompay,A.R., Johansson,M. and Karlsson,A.
  TITLE     Phosphorylation of deoxycytidine analog monophosphates by UMP-CMP
            kinase: molecular characterization of the human enzyme
  JOURNAL   Mol. Pharmacol. 56 (3), 562-569 (1999)
  MEDLINE   99393619
   PUBMED   10462544
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF070416.1.
FEATURES             Location/Qualifiers
     source          1..2836
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1-p33"
                     /clone="I.M.A.G.E Consortium clones 83173, 545355, 140570,
                     595781, 171759 and 813072"
     gene            1..2836
                     /gene="UMP-CMPK"
                     /db_xref="LocusID:51727"
     CDS             31..717
                     /gene="UMP-CMPK"
                     /EC_number="2.7.1.48"
                     /function="nucleoside monophosphate kinase"
                     /note="uridine kinase"
                     /codon_start=1
                     /product="UMP-CMP kinase"
                     /protein_id="NP_057392.1"
                     /db_xref="GI:7706497"
                     /db_xref="LocusID:51727"
                     /translation="MLSRCRSGLLHVLGLSFLLQTRRPILLCSPRLMKPLVVFVLGGP
                     GAGKGTQCARIVEKYGYTHLSAGELLRDERKNPDSQYGELIEKYIKEGKIVPVEITIS
                     LLKREMDQTMAANAQKNKFLIDGFPRNQDNLQGWNKTMDGKADVSFVLFFDCNNEICI
                     ERCLERGKSSGRSDDNRESLEKRIQTYLQSTKPIIDLYEEMGKVKKIDASKSVDEVFD
                     EVVQIFDKEG"
     misc_feature    148..639
                     /gene="UMP-CMPK"
                     /note="adenylatekinase; Region: Adenylate kinase"
                     /db_xref="CDD:pfam00406"
     misc_feature    154..690
                     /gene="UMP-CMPK"
                     /note="Thymidylate_kin; Region: Thymidylate kinase"
                     /db_xref="CDD:pfam02223"
     variation       complement(965)
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:2820981"
     variation       complement(1076)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3767626"
     variation       1076
                     /gene="UMP-CMPK"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1044457"
     variation       complement(1651)
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:10198"
     variation       complement(2315)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3088062"
     variation       complement(2742..2743)
                     /allele="-"
                     /allele="A"
                     /db_xref="dbSNP:3835608"
     variation       2762
                     /gene="UMP-CMPK"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:6795"
     variation       complement(2762)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3767625"
BASE COUNT      875 a    449 c    553 g    959 t
ORIGIN      
        1 ctccctcagc gtccggccga ggcgcggtgt atgctgagcc gctgccgcag cgggctgctc
       61 cacgtcctgg gccttagctt cctgctgcag acccgccggc cgattctcct ctgctctcca
      121 cgtctcatga agccgctggt cgtgttcgtc ctcggcggcc ccggcgccgg caaggggacc
      181 cagtgcgccc gcatcgtcga gaaatatggc tacacacacc tttctgcagg agagctgctt
      241 cgtgatgaaa ggaagaaccc agattcacag tatggtgaac ttattgaaaa gtacattaaa
      301 gaaggaaaga ttgtaccagt tgagataacc atcagtttat taaagaggga aatggatcag
      361 acaatggctg ccaatgctca gaagaataaa ttcttgattg atgggtttcc aagaaatcaa
      421 gacaaccttc aaggatggaa caagaccatg gatgggaagg cagatgtatc tttcgttctc
      481 ttttttgact gtaataatga gatttgtatt gaacgatgtc ttgagagggg aaagagtagt
      541 ggtaggagtg atgacaacag agagagcttg gaaaagagaa ttcagaccta ccttcagtca
      601 acaaagccaa ttattgactt atatgaagaa atggggaaag tcaagaaaat agatgcttct
      661 aaatctgttg atgaagtttt tgatgaagtt gtgcagattt ttgacaagga aggctaattc
      721 taaacctgaa agcatccttg aaatcatgct tgaatattgc tttgatagct gctatcatga
      781 ccccttttta aggcaattct aatctttcat aactacatct caattagtgg ctggaaagta
      841 catggtaaaa caaagtaaat ttttttatgt tctttttttg gtcacaggag tagacagtga
      901 attcaggttt aacttcacct tagttatggt gctcaccaaa cgaagggtat cagctatttt
      961 tttttaaatt caaaaagaat atccctttta tagtttgtgc cttctgtgag caaaactttt
     1021 tagtacgcgt atatatccct ctagtaatca caacatttta ggatttaggg atacctgctt
     1081 cctctttttc ttgcaagttt taaatttcca accttaagtg aatttgtgga ccaaatttca
     1141 aaggaacttt ttgtgtagtc agttcttgca caatgtgttt ggtaaacaaa ctcaaaatgg
     1201 attcttagga gcattttagt gtttattaaa taactgacca tttgctgtag aaagatgaga
     1261 aaacttaagc tttgttttac tacaacttgt acaaagttgt atgacagggc atattctttg
     1321 cttccaagat ttgggttggg ggcactaggg gttcagagcc tggcagaatt gtcagcttta
     1381 gtctgacata atctaagggt atggggcaag gatcacatct aatgcttgtg tccttatact
     1441 ctattatata gtgttattca tgattcagct gatcttaaca aaattcgtag cagtggaacc
     1501 ttgaaatgca tgtggctaga tttatgctaa aatgattctc agttagcatt ttagtaacac
     1561 ttcaaaggtt tttttttgtt tgttttctag acttaataaa agcttaggat taattagaag
     1621 aagcaatcta gttaaatttc ccatttgtat tttattttct tgaatacttt tttcatagtt
     1681 atttgtttaa aaagatttaa aaatcattgc actttggtca gaaaaataat aaatatatct
     1741 tataaatgtt tgattccctt ccttgctatt tttattcagt agatttttgt ttggcatcat
     1801 gttgaagcac cgaaagataa atgattttta aaaggctata gagtccaaag gaatattctt
     1861 ttacaccaat tcttccttta aaaatctctg aggaatttgt tttcgcctta cttttttttc
     1921 ttctgtcaca atgctaagtg gtatccgagg ttcttaatat gagatttaaa atcttaaaat
     1981 gtttcttatt ttcagcactt acatcatttg gtacacaggg tcaaataggg caaataattt
     2041 tgtctttgta taatagattt gatatttaaa gtcactggaa ataggacaag ttaatggatg
     2101 tttttatatt ttaatagaat catttatttc tatgtgttat gaaattcact taatgataaa
     2161 tttttcaaca tacttgccat tagaaaacaa agtattgcta agtactataa catattggcc
     2221 actaaaattc atattgagat tatcttggtt tcttggaaga gataggaatg agttcttatc
     2281 tagtgttgca ggccagcaaa tacagaggtg gtttaatcaa acagctctag tatgaagcaa
     2341 gagtaaagac taaggtttcg agagcattcc tactcacata agtgaagaaa tctgtcagat
     2401 aggaatctaa atatttatag tgagattgtg aaagcaacct taaagttttg aagaagactg
     2461 atgagactag gtgctttgct tcctttcatc aggtatcttt ctgtggcatt tgagaacaga
     2521 aaccaagaaa catggtaatt actaaattat gaggctttgc tttttgtttg cttttaagta
     2581 gaaaaacatg ttggcaacat tgagttttgg agttgattga gataatatga cttaactagt
     2641 tttgtcattc catttgttaa agatacagtc accaagaatg ttttgagttt tttgaaagac
     2701 cccaatttaa gccttgctta tttttaaatt atttccattc agtgatgttg gatgtatatc
     2761 agttatttag taaataatct caataaattt tgtgctgtgg cctttgctaa aaaaaaaaaa
     2821 aaaaaaaaaa aaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&&



NM_041046:  No sequence found for this accession number





&&&&&&&&&


    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 EST FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default        
 
 

1: AA146022. mr13e04.r1 Soares...[gi:1715393] Links  


IDENTIFIERS

dbEST Id:       784553
EST name:       mr13e04.r1
GenBank Acc:    AA146022
GenBank gi:     1715393

CLONE INFO
Clone Id:       IMAGE:597342 (5')
Source:         IMAGE Consortium, LLNL
DNA type:       cDNA

PRIMERS
Sequencing:     -28M13 rev2 from Amersham
PolyA Tail:     Unknown

SEQUENCE
                TTGACAAGATGGATATCAAAAATAGTTGCTGTGAAAAGTTAGTAGTCTTCTTCAAGAAGA
                AAACAGTTCCTTTTCTAATACTATCCTGTGAAATTGCTTCACCCATTCCTTTATTTTAAA
                GCCAAATGTCAGCAGAATACTGCTGTTTTTATCTAAATAATTTTAATATGTAAGTATTAA
                TGCATTTAAAAAGATGTCTGCGTTGAGAAATACTTCACTAGTGTACTGCCTGTGAAAACT
                TTGTTCAGATTTCTGGCTAAGACACCAGTCAGTATACTGGGGCTGCACATTACATACATG
                TATTATTTTAGTCAGGTATTGTTGTAGACCAAGCCTGGTTATAATAGAGTTGACTATCAC
                TAGTTTGTTATCAGTTAATTTTTAATTATTTCCAGTTTACTCTC
Quality:        High quality sequence stops at base: 389

Entry Created:  Dec 5 1996
Last Updated:   Feb 16 1997

COMMENTS
                This clone is available royalty-free through LLNL ; contact
                the IMAGE Consortium (info@image.llnl.gov) for further
                information.
                MGI:362774

LIBRARY
Lib Name:       Soares mouse 3NbMS
Organism:       Mus musculus
Strain:         C57BL/6J
Sex:            male
Tissue type:    Spleen
Develop. stage: 4 weeks
Lab host:       DH10B
Vector:         pT7T3D-Pac (Pharmacia) with a modified polylinker
R. Site 1:      Not I
R. Site 2:      Eco RI
Description:    1st strand cDNA was primed with a Not I - oligo(dT) primer
                [5'
                TGTTACCAATCTGAAGTGGGAGCGGCCGCGCTGTTTTTTTTTTTTTTTTTTTTTTTT
                3']; double-stranded cDNA was ligated to Eco RI adaptors
                (Pharmacia), digested with Not I and cloned into the Not I
                and Eco RI sites of the modified pT7T3 vector. RNA provided
                by Dr. Bertrand Jordan. Library went through three rounds of
                normalization, and was constructed by Bento Soares and
                M.Fatima Bonaldo.

SUBMITTER
Name:           Marra M/Mouse EST Project
Lab:            WashU-HHMI Mouse EST Project
Institution:    Washington University School of MedicineP
Address:        4444 Forest Park Parkway, Box 8501, St. Louis, MO 63108
Tel:            314 286 1800
Fax:            314 286 1810
E-mail:         mouseest@watson.wustl.edu

CITATIONS
Title:          The WashU-HHMI Mouse EST Project
Authors:        Marra,M., Hillier,L., Allen,M., Bowles,M., Dietrich,N.,
                Dubuque,T., Geisel,S., Kucaba,T., Lacy,M., Le,M., Martin,J.,
                Morris,M., Schellenberg,K., Steptoe,M., Tan,F., Underwood,K.
                , Moore,B., Theising,B., Wylie,T., Lennon,G., Soares,B.,
                Wilson,R., Waterston,R.
Year:           1996
Status:         Unpublished


MAP DATA
--------------------------------------------------------------------------------



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Map ViewerMap ViewerProbeSetProbeSetTaxonomyTaxonomyTracesTracesUniGeneUniGeneLinkOutLinkOutHelpHelp  


&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003505. Homo sapiens friz...[gi:4503824] Links  


LOCUS       FZD1                    4350 bp    mRNA    linear   PRI 20-DEC-2001
DEFINITION  Homo sapiens frizzled homolog 1 (Drosophila) (FZD1), mRNA.
ACCESSION   NM_003505
VERSION     NM_003505.1  GI:4503824
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Sagara,N., Toda,G., Hirai,M., Terada,M. and Katoh,M.
  TITLE     Molecular cloning, differential expression, and chromosomal
            localization of human frizzled-1, frizzled-2, and frizzled-7
  JOURNAL   Biochem. Biophys. Res. Commun. 252 (1), 117-122 (1998)
  MEDLINE   99032814
   PUBMED   9813155
REFERENCE   2  (bases 1 to 4350)
  AUTHORS   Gazit,A., Yaniv,A., Bafico,A., Pramila,T., Igarashi,M.,
            Kitajewski,J. and Aaronson,S.A.
  TITLE     Human frizzled 1 interacts with transforming Wnts to transduce a
            TCF dependent transcriptional response
  JOURNAL   Oncogene 18 (44), 5959-5966 (1999)
  MEDLINE   20027383
   PUBMED   10557084
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB017363.1.
            Summary:  Members of the 'frizzled' gene family encode
            7-transmembrane domain proteins that are receptors for Wnt
            signaling proteins.  The FZD1 protein contains a signal peptide, a
            cysteine-rich domain in the N-terminal extracellular region, 7
            transmembrane domains, and a C-terminal PDZ domain-binding motif.
            The FZD1 transcript is expressed in various tissues.
FEATURES             Location/Qualifiers
     source          1..4350
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21"
     gene            1..4350
                     /gene="FZD1"
                     /db_xref="LocusID:8321"
                     /db_xref="MIM:603408"
     variation       61
                     /gene="FZD1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2232155"
     variation       189
                     /gene="FZD1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2232156"
     variation       complement(190)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3750148"
     variation       190
                     /gene="FZD1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2232157"
     variation       320
                     /gene="FZD1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:2232158"
     variation       complement(320)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3750147"
     variation       363
                     /gene="FZD1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2232159"
     CDS             414..2357
                     /gene="FZD1"
                     /note="frizzled (Drosophila) homolog 1; Frizzled,
                     drosophila, homolog of, 1; Wnt receptor"
                     /codon_start=1
                     /product="frizzled 1"
                     /protein_id="NP_003496.1"
                     /db_xref="GI:4503825"
                     /db_xref="LocusID:8321"
                     /db_xref="MIM:603408"
                     /translation="MAEEEAPKKSRAAGGGASWELCAGALSARLAEEGSGDAGGRRRP
                     PVDPRRLARQLLLLLWLLEAPLLLGVRAQAAGQGPGQGPGPGQQPPPPPQQQQSGQQY
                     NGERGISVPDHGYCQPISIPLCTDIAYNQTIMPNLLGHTNQEDAGLEVHQFYPLVKVQ
                     CSAELKFFLCSMYAPVCTVLEQALPPCRSLCERARQGCEALMNKFGFQWPDTLKCEKF
                     PVHGAGELCVGQNTSDKGTPTPSLLPEFWTSNPQHGGGGHRGGFPGGAGASERGKFSC
                     PRALKVPSYLNYHFLGEKDCGAPCEPTKVYGLMYFGPEELRFSRTWIGIWSVLCCAST
                     LFTVLTYLVDMRRFSYPERPIIFLSGCYTAVAVAYIAGFLLEDRVVCNDKFAEDGART
                     VAQGTKKEGCTILFMMLYFFSMASSIWWVILSLTWFLAAGMKWGHEAIEANSQYFHLA
                     AWAVPAIKTITILALGQVDGDVLSGVCFVGLNNVDALRGFVLAPLFVYLFIGTSFLLA
                     GFVSLFRIRTIMKHDGTKTEKLEKLMVRIGVFSVLYTVPATIVIACYFYEQAFRDQWE
                     RSWVAQSCKSYAIPCPHLQAGGGAPPHPPMSPDFTVFMIKYLMTLIVGITSGFWIWSG
                     KTLNSWRKFYTRLTNSKQGETTV"
     misc_feature    729..1097
                     /gene="FZD1"
                     /note="Fz; Region: Fz domain. Also known as the CRD
                     (cysteine rich domain)"
                     /db_xref="CDD:pfam01392"
     misc_feature    759..1106
                     /gene="FZD1"
                     /note="FRI; Region: Frizzled"
                     /db_xref="CDD:smart00063"
     misc_feature    1338..2333
                     /gene="FZD1"
                     /note="Frizzled; Region: Frizzled/Smoothened family
                     membrane region. This family contains the membrane
                     spanning region of frizzled and smoothened receptors. This
                     membrane region is predicted to contain seven
                     transmembrane alpha helices. Proteins related to
                     drosophila frizzled are receptors for the Wnt signaling
                     molecules. The smoothened receptor mediates hedgehog
                     signaling"
                     /db_xref="CDD:pfam01534"
     variation       1067
                     /gene="FZD1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2232160"
     variation       complement(1440)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3750146"
     variation       2162
                     /gene="FZD1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2232161"
     variation       2423
                     /gene="FZD1"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:2232162"
     variation       2453
                     /gene="FZD1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2232163"
     variation       complement(3049)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3750145"
     variation       3949
                     /gene="FZD1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1052015"
BASE COUNT      917 a   1218 c   1236 g    979 t
ORIGIN      
        1 agttgaggga ttgacacaaa tggtcaggcg gcggcggcgg agaaggaggc ggaggcgcag
       61 gggggagccg agcccgctgg gctgcggaga gttgcgctct ctacggggcc gcggccacta
      121 gcgcggcgcc gccagccggg agccagcgag ccgagggcca ggaaggcggg acacgacccc
      181 ggcgcgccct agccacccgg gttctccccg ccgcccgcgc ttcatgaatc gcaagtttcc
      241 gcggcggcgg cggctgcggt acgcagaaca ggagccgggg gagcgggccg aaagcggctt
      301 gggctcgacg gagggcaccc gcgcagaggt ctccctggcc gcagggggag ccgccgccgg
      361 ccgtgcccct ggcagcccca gcggagcggc gccaagagag gagccgagaa agtatggctg
      421 aggaggaggc gcctaagaag tcccgggccg ccggcggtgg cgcgagctgg gaactttgtg
      481 ccggggcgct ctcggcccgg ctggcggagg agggcagcgg ggacgccggt ggccgccgcc
      541 gcccgccagt tgacccccgg cgattggcgc gccagctgct gctgctgctt tggctgctgg
      601 aggctccgct gctgctgggg gtccgggccc aggcggcggg ccaggggcca ggccaggggc
      661 ccgggccggg gcagcaaccg ccgccgccgc ctcagcagca acagagcggg cagcagtaca
      721 acggcgagcg gggcatctcc gtcccggacc acggctattg ccagcccatc tccatcccgc
      781 tgtgcacgga catcgcgtac aaccagacca tcatgcccaa cctgctgggc cacacgaacc
      841 aggaggacgc gggcctggag gtgcaccagt tctaccctct agtgaaagtg cagtgttccg
      901 ctgagctcaa gttcttcctg tgctccatgt acgcgcccgt gtgcaccgtg ctagagcagg
      961 cgctgccgcc ctgccgctcc ctgtgcgagc gcgcgcgcca gggctgcgag gcgctcatga
     1021 acaagttcgg cttccagtgg ccagacacgc tcaagtgtga gaagttcccg gtgcacggcg
     1081 ccggcgagct gtgcgtgggc cagaacacgt ccgacaaggg caccccgacg ccctcgctgc
     1141 ttccagagtt ctggaccagc aaccctcagc acggcggcgg agggcaccgt ggcggcttcc
     1201 cggggggcgc cggcgcgtcg gagcgaggca agttctcctg cccgcgcgcc ctcaaggtgc
     1261 cctcctacct caactaccac ttcctggggg agaaggactg cggcgcacct tgtgagccga
     1321 ccaaggtgta tgggctcatg tacttcgggc ccgaggagct gcgcttctcg cgcacctgga
     1381 ttggcatttg gtcagtgctg tgctgcgcct ccacgctctt cacggtgctt acgtacctgg
     1441 tggacatgcg gcgcttcagc tacccggagc ggcccatcat cttcttgtcc ggctgttaca
     1501 cggccgtggc cgtggcctac atcgccggct tcctcctgga agaccgagtg gtgtgtaatg
     1561 acaagttcgc cgaggacggg gcacgcactg tggcgcaggg caccaagaag gagggctgca
     1621 ccatcctctt catgatgctc tacttcttca gcatggccag ctccatctgg tgggtgatcc
     1681 tgtcgctcac ctggttcctg gcggctggca tgaagtgggg ccacgaggcc atcgaagcca
     1741 actcacagta ttttcacctg gccgcctggg ctgtgccggc catcaagacc atcaccatcc
     1801 tggcgctggg ccaggtggac ggcgatgtgc tgagcggagt gtgcttcgtg gggcttaaca
     1861 acgtggacgc gctgcgtggc ttcgtgctgg cgcccctctt cgtgtacctg tttatcggca
     1921 cgtcctttct gctggccggc tttgtgtcgc tcttccgcat ccgcaccatc atgaagcacg
     1981 atggcaccaa gaccgagaag ctggagaagc tcatggtgcg cattggcgtc ttcagcgtgc
     2041 tgtacactgt gccagccacc atcgtcatcg cctgctactt ctacgagcag gccttccggg
     2101 accagtggga acgcagctgg gtggcccaga gctgcaagag ctacgctatc ccctgccctc
     2161 acctccaggc gggcggaggc gccccgccgc acccgcccat gagcccggac ttcacggtct
     2221 tcatgattaa gtaccttatg acgctgatcg tgggcatcac gtcgggcttc tggatctggt
     2281 ccggcaagac cctcaactcc tggaggaagt tctacacgag gctcaccaac agcaaacaag
     2341 gggagactac agtctgagac ccggggctca gcccatgccc aggcctcggc cggggcgcag
     2401 cgatccccca aagccagcgc cgtggagttc gtgccaatcc tgacatctcg aggtttcctc
     2461 actagacaac tctctttcgc aggctccttt gaacaactca gctcctgcaa aagcttccgt
     2521 ccctgaggca aaaggacacg agggcccgac tgccagaggg aggatggaca gacctcttgc
     2581 cctcacactc tggtaccagg actgttcgct tttatgattg taaatagcct gtgtaagatt
     2641 tttgtaagta tatttgtatt taaatgacga ccgatcacgc gtttttcttt ttcaaaagtt
     2701 tttaattatt tagggcggtt taaccatttg aggcttttcc ttcttgccct tttcggagta
     2761 ttgcaaagga gctaaaactg gtgtgcaacc gcacagcgct cctggtcgtc ctcgcgcgcc
     2821 tctccctacc acgggtgctc gggacggctg ggcgccagct ccggggcgag ttcagcactg
     2881 cggggtgcga ctagggctgc gctgccaggg tcacttcccg cctcctcctt ttgccccctc
     2941 cccctccttc tgtcccctcc ctttctttcc tggcttgagg taggggctct taaggtacag
     3001 aactccacaa accttccaaa tctggaggag ggcccccata cattacaatt cctcccttgc
     3061 tcggcggtgg attgcgaagg cccgtccctt cgacttcctg aagctggatt tttaactgtc
     3121 cagaactttc ctccaacttc atgggggccc acgggtgtgg gcgctggcag tctcagcctc
     3181 cctccacggt caccttcaac gcccagacac tcccttctcc caccttagtt ggttacaggg
     3241 tgagtgagat aaccaatgcc aaactttttg aagtctaatt tttgaggggt gagctcattt
     3301 cattctctag tgtctaaaac ctggtatggg tttggccagc gtcatggaaa gatgtggtta
     3361 ctgagatttg ggaagaagca tgaagctttg tgtgggttgg aagagactga agatatgggt
     3421 tataaaatgt taattctaat tgcatacgga tgcctggcaa ccttgccttt gagaatgaga
     3481 cagcctgcgc ttagatttta ccggtctgta aaatggaaat gttgaggtca cctggaaagc
     3541 tttgttaagg agttgatgtt tgctttcctt aacaagacag caaaacgtaa acagaaattg
     3601 aaaacttgaa ggatatttca gtgtcatgga cttcctcaaa atgaagtgct attttcttat
     3661 ttttaatcaa ataactagac atatatcaga aactttaaaa tgtaaaagtt gtacactttc
     3721 aacattttat tacgattatt attcagcagc acattctgag gggggaacaa ttcacaccac
     3781 caataataac ctggtaagat ttcaggaggt aaagaaggtg gaataattga cggggagata
     3841 gcgcctgaaa taaacaaaat atgggcatgc atgctaaagg gaaaatgtgt gcaggtctac
     3901 tgcattaaat cctgtgtgct cctcttttgg atttacagaa atgtgtcaaa tgtaaatctt
     3961 tcaaagccat ttaaaaatat tcactttagt tctctgtgaa gaagaggaga aaagcaatcc
     4021 tcctgattgt attgttttaa actttaagaa tttatcaaaa tgccggtact taggacctaa
     4081 atttatctat gtctgtcata cgctaaaatg atattggtct ttgaatttgg tatacattta
     4141 ttctgttcac tatcacaaaa tcatctatat ttatagagga atagaagttt atatatatat
     4201 aataccatat ttttaatttc acaaataaaa aattcaaagt tttgtacaaa attatatgga
     4261 ttttgtgcct gaaaataata gagcttgagc tgtctgaact attttacatt ttatggtgtc
     4321 tcatagccaa tcccacagtg taaaaattca
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  





&&&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_014864. Homo sapiens KIAA...[gi:7662149] Links  


LOCUS       KIAA0475                5983 bp    mRNA    linear   PRI 02-NOV-2000
DEFINITION  Homo sapiens KIAA0475 gene product (KIAA0475), mRNA.
ACCESSION   NM_014864
VERSION     NM_014864.1  GI:7662149
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Seki,N., Ohira,M., Nagase,T., Ishikawa,K., Miyajima,N.,
            Nakajima,D., Nomura,N. and Ohara,O.
  TITLE     Characterization of cDNA clones in size-fractionated cDNA libraries
            from human brain
  JOURNAL   DNA Res. 4 (5), 345-349 (1997)
  MEDLINE   98116662
   PUBMED   9455484
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AB007944.1.
FEATURES             Location/Qualifiers
     source          1..5983
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1"
                     /clone="HH0451"
                     /sex="male"
                     /tissue_type="brain"
                     /clone_lib="pBluescriptII SK plus"
     gene            1..5983
                     /gene="KIAA0475"
                     /db_xref="LocusID:9917"
     CDS             337..1566
                     /gene="KIAA0475"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="KIAA0475 gene product"
                     /protein_id="NP_055679.1"
                     /db_xref="GI:7662150"
                     /db_xref="LocusID:9917"
                     /translation="MKLKQRVVLLAILLVIFIFTKVFLIDNLDTSAANREDQRAFHRM
                     MTGLRVELAPKLDHTLQSPWEIAAQWVVPREVYPEETPELGAVMHAMATKKIIKADVG
                     YKGTQLKALLILEGGQKVVFKPKRYSRDHVVEGEPYAGYDRHNAEVAAFHLDRILGFH
                     RAPLVVGRFVNLRTEIKPVATEQLLSTFLTVGNNTCFYGKCYYCRETEPACADGDIME
                     GSVTLWLPDVWPLQKHRHPWGRTYREGKLARWEYDESYCDAVKKTSPYDSGPRLLDII
                     DTAVFDYLIGNADRHHYESFQDDEGASMLILLDNAKSFGNPSLDERSILAPLYQCCII
                     RVSTWNRLNYLKNGVLKSALKSAMAHDPISPVLSDPHLDAVDQRLLSVLATVKQCTDQ
                     FGMDTVLVEDRMPLSHL"
     variation       complement(1685)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2025584"
     variation       complement(1685)
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3766627"
     variation       complement(3825)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3766626"
     variation       complement(3839)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3766625"
     variation       4588
                     /gene="KIAA0475"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2018786"
     variation       complement(5291)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2147768"
     variation       5759
                     /gene="KIAA0475"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:9249"
     variation       complement(5759)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3766624"
     variation       5786
                     /gene="KIAA0475"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1220"
     variation       complement(5786)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3820162"
     variation       5838
                     /gene="KIAA0475"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:15325"
BASE COUNT     1690 a   1227 c   1404 g   1662 t
ORIGIN      
        1 gtgtgggact gccgctctgc gcggcgagag gtggcctggg aatggccggg ccgggggtgg
       61 gccggagccg ctgtggcggc ggcggcggct gggggcggtg agcgcggcgt ggggctgccc
      121 ctccccggag gcggcggggg cggccggggc cgcgccgcac cgcaccgcgc gggcggccat
      181 ggagcgagcc tagggcccga caggaactgt ggaaggtgca tcagtgaaga aatggaccaa
      241 tgtgtataat catggaatct ccttgctaac catcaccacc agctctcctt aatacatgag
      301 caagagtggg tcaggggaga aggaaaagag gtcaacatga agctaaagca gcgagtcgtg
      361 ctgttagcaa ttctccttgt catttttatc ttcaccaaag ttttcctgat tgacaactta
      421 gatacatcag ctgccaaccg ggaggaccag agggcctttc accgaatgat gactggcttg
      481 cgggtggagc tggcacccaa gctggaccat accttgcagt ctccctggga gattgcagcc
      541 cagtgggtgg ttccccggga agtgtaccct gaagagacac cagagctggg ggcagtcatg
      601 catgccatgg ccaccaagaa aatcattaaa gctgatgtgg gttataaagg gacacagctg
      661 aaagccttac tgatacttga aggaggccag aaagttgttt tcaaacctaa gcggtatagc
      721 cgagaccatg tggtggaagg ggaaccgtat gctggttatg atagacacaa tgcagaggta
      781 gcagcctttc acttggacag gattctgggt ttccaccgag cccccttggt agttggcaga
      841 tttgttaatc ttcggacaga gatcaaacct gtcgccacag agcagctgtt gagcaccttc
      901 ctaactgtag gaaacaatac ttgtttttat gggaagtgct attactgccg agaaacagaa
      961 ccagcttgtg ctgatggaga cataatggag ggatctgtca cactttggct tccagatgtg
     1021 tggcctctgc agaagcaccg tcacccatgg ggcaggactt accgagaagg caaattggcc
     1081 aggtgggagt atgatgagag ctactgtgat gctgtgaaga aaacgtcccc ttatgactct
     1141 ggcccgcgcc tcttggacat cattgacaca gctgtctttg attacctgat tggcaatgct
     1201 gaccgccatc actatgagag ctttcaagat gatgaaggcg ctagtatgct catccttctt
     1261 gataatgcca aaagctttgg gaacccctcg ctggatgaaa gaagcattct tgcccctctc
     1321 tatcagtgtt gcatcattcg ggtgtccacc tggaacagac tgaactacct aaagaatggt
     1381 gtgctaaagt ctgccttaaa atctgccatg gcccatgacc ccatctcccc agtgctctct
     1441 gatcctcatc tggacgccgt ggaccagcgg ctcctgagtg tcctggccac cgtgaagcag
     1501 tgcaccgacc agtttgggat ggacacagta ctggtggaag acaggatgcc tctctcacac
     1561 ttgtaattct cgacacaaaa taagtgaaac ttctttttac aaagatagag aaacagcaca
     1621 atcaattcca aatggtatga gatggattgg aagtggccag cagcaagttc tggtgacagg
     1681 acagggtggc cttggatgtc tttggtattt tctgtagtag aaactaaagc aaagaccaca
     1741 agtttcagag catggagaca ttcctgctga atcgccttct cacctcctcg gcaattgctc
     1801 attctagggt tgggcatcat agttggtcag tcttaattcc catgccaaag gacaaacagg
     1861 tgtgacattt ggatagatga atactgggat tggctctgga gcatgtgttt tgagttgaac
     1921 cttgcagtcc tttctctacg cccgtggatt ttgtggaaac actttgcaat ctctttgtct
     1981 tttttttttt accagaacta gttacattgg aatgcttact gtcctacaga gtggcagcaa
     2041 ataaaacctt gcattccatc aagccaaaat agcacactct gttagaggag atacatgttt
     2101 aagatagaat tggagggaag gacaaaaaca gaaaaatgtt tgggctttta agccattggg
     2161 tagtattgtt ttgatgatct tagaggaggg aagaagagag agagacccaa tggtagaacc
     2221 agaatcaggg agatgactga actactgaaa aacaggttcc cttgtattta ggatcttaag
     2281 gtgtataaaa agcaaacatg actttgcacc taagtaaatt ctgcattctc atagttgtgt
     2341 cccaattaac caaaaagttg tctctagaga aaataatatt acaatctaag catgattctc
     2401 tgtggagact aattttttcc ccttttgcca aaagcagtcc ttcccaaatt aacaaagcaa
     2461 actgaaataa taccttgaat aacaggttgc ctgtggtctc tgtcatcctc gtctctcttc
     2521 tgaaatgaat ttccacctct gcctttaagg catttttgtc actgaagctg ctgttcccaa
     2581 gagataggca acctttttgt ccctttctca taagaaaggg acactcctac aggtgagagt
     2641 gtatacctta ctctctcaga taagtggctg gacttatctt gtgatttggg gccatggaag
     2701 attggaaaca aagattttaa gccttcttct tttttgcttt tttctttttt ttttgagacc
     2761 aagtctcact ctgttgccca ggctggagtg cagtggcacg atcttggctc actgcaacct
     2821 ccgtctccca ggttcaagcg attctcttgc ctcagcctcc agagtagctg ggattacagg
     2881 cgcccgccat cgtgcccagc taatttttat atttttagtg gagacagggt ttcgggtttc
     2941 accatgttgg ccaggttgat cttggactcc tgaccccagg tgatccacct gcctcagcct
     3001 tccaaagtgc tgggattaca ggcatgagcc accgtggccg gccaagattt taagccttct
     3061 gagccttgaa attgaggagg ttaaaaggaa gagccttaag attttgattt atgtcaaatc
     3121 ctaattctat cattcagtct tgtttggagt tctgaaccca tgatgttgta ttatgcttct
     3181 ttctcctctt agcactctca aatttcaggt ttgtaaaaca cagtttttgt tttgtgttct
     3241 ggcaaagtga tctcaacatg taagtagttg cagtaaaaca caggggcaaa ggaagacagg
     3301 cctgatgtgc ccactcatct atggactcag agctgtgtgc tttgctcctg catcttgttg
     3361 aggtgctgtt ccagctttgc atttctgtca agtagaggcg aatatataaa cagtgtggtt
     3421 gaatacattt aatgccagcc attggaaact agttttaggc aaccactctc aaaaacagct
     3481 ttagaattta tgcccagttt tcttgcattg aaagataact gagtaataac ctgtaactat
     3541 ttttaaatgg catgaaatta ggaaactttt gtacatttta tatacatttt gagatgaaca
     3601 gaacaatggg ctgagttata aaaagcgtgt attgaattta agaagacaga ctagcacaaa
     3661 acacagaatt cgtgttaacc aaaggaggca ttgatttcag ttttaaggct actcagtgtt
     3721 gtgtgtccag ggaaattcac agctcagtat gagaatacct tggttagtgc tcacccacaa
     3781 gcttccagga gccagctggg aggagacaat aggaagagat gtcagctctg ctctccctgt
     3841 aaatgttagt tgaactaagt tatggatttg tggtctttca aatacatgac gcctttagta
     3901 tgccacactg aaatgaataa gaagtcttct gaaactggga acttcataac attgaaggca
     3961 gaagattctg ctaaggaaaa aagcaggcag gaaagaaaat gtctcatcct ttcttgaaag
     4021 catttgcaga aaatatatca tttcatttta ttcccatctg ttttcaaact cgtgatctta
     4081 aaaggcattc tgatgataaa tttagaattt tcatctataa aatttagaac tctaatccat
     4141 aaagttagaa ttgagctaat agagtggtat gacatggcac taaaaatata aatttttgtt
     4201 gtaagtcagg attggagtaa gctggaaaag tatgtttagg caaatcttgg agaaaaccaa
     4261 ccataaactt acagctctaa aattcagaaa gccctaaaat ttcaaacact gtttgaaaga
     4321 agaggtgggg gccgggtgcc gtggctcatg cctgtcatcc cagcatttgg gaggctgagg
     4381 caggcagatc acctgaggcc aggagttcga gaccagcctg gctggctagc atggtgagac
     4441 cgtctctact aaaaatgcaa aaattaacag ggcacggtgg catgcgcctg tagtcccagc
     4501 tactcgggag gctgaggcag gagaatcact tgaatccagg aggcgaaggt tgcagtgagc
     4561 tgagattgtg ctgctgcact ccagcctggg agacagagcg agactctgtc ttaaaaaaaa
     4621 aaaaaggagg tgaatttttt tttaagtttt gtaacactgt cctactttat ttattagaat
     4681 ctaaggctgt tacaatcaag tcgttgcagg gtttggatca gctgtaagtt aggtatgcct
     4741 accaaacatc caaaggtaga cgtggagaca ttttaatact acaaaactag gaaaatcaga
     4801 actcatggcc atttcctgcc ctcctccaac ttgttaaaac atgtttattc taaagttcga
     4861 atggataaat ttgagtataa aggttttgtt ataaaactgt tctttagtgt aaggctgcat
     4921 tgtgggtttg ggggaaatgt aaataatttt ctgtgtaaaa caaattcata ggatctgatt
     4981 tgctcagagt attattcaag aatgtattaa taaggcattg ccccctgttt gcactcaggg
     5041 ttaatatgtc aaatgaaatt taagaaggaa atggaagaat tcaggtacat taattgcata
     5101 ttattttggg aaagatgagt cctatacgtg gcaatttttc aatgtcatct gaagccagca
     5161 ttatcttcca aagaaatcga tctttttttt ctaaaaaaaa aaaatgcttt tgccttccct
     5221 tcccttccca tccgccatat ttcttcagcc tttcttctcg atcacccgtg tattctttga
     5281 ccagtaaatg accacacctc aatgatggta aaacagcatc atcagtaagc tatcttatat
     5341 gcctcatcct gtgagtttga gcttcaggaa acatgagtaa aagtatatgt aatgtatata
     5401 gtcgtatatg tattctagca agaaaaacat atttattttg acaaagggga acactgactt
     5461 tctgaaggat tcagaaagaa ccttagtgaa aggttctcag tctctgagag tggaccctaa
     5521 ttaacataaa gaccattcat cagcgaataa ctactgagca actctagtgt gccagcacag
     5581 gccagacata ctagtgagcc aggcacatct ggccttggga aactcatcct acaggggaag
     5641 gccagttttt ttcccttcaa ttcctcaagt ctgggtggtg acaaggtagg ggctaggtac
     5701 tggactacca caggttttta ggaactaagg tgtttctcat aaacacaaaa tgttgggtga
     5761 aactgggaac aactactcag aagctcattt atttgcttaa atggaaagtg tgggagccac
     5821 taccctctct tttgatctgc caaggatttc ctctcagagc tgttgcacag acagagattg
     5881 tacttggtaa gataccaaac aagacagata tggatctaaa tttctaatgt gttctatggg
     5941 tttcaattct gaaaaaagaa aatgaataaa gattttaata aat
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_020182. Homo sapiens tran...[gi:21361840] Links  


LOCUS       TMEPAI                  4839 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens transmembrane, prostate androgen induced RNA (TMEPAI),
            mRNA.
ACCESSION   NM_020182
VERSION     NM_020182.2  GI:21361840
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4839)
  AUTHORS   Rae,F.K., Hooper,J.D., Nicol,D.L. and Clements,J.A.
  TITLE     Homo sapiens transmembrane, prostate androgen induced RNA (TMEPAI),
            mRNA
  JOURNAL   Unpublished (2000)
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AF305616.1.
            On Jun 10, 2002 this sequence version replaced gi:9910497.
FEATURES             Location/Qualifiers
     source          1..4839
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.31-q13.33"
     gene            1..4839
                     /gene="TMEPAI"
                     /note="PMEPA1"
                     /db_xref="LocusID:56937"
                     /db_xref="MIM:606564"
     CDS             321..1184
                     /gene="TMEPAI"
                     /note="PMEPA1 protein"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="transmembrane, prostate androgen induced RNA"
                     /protein_id="NP_064567.2"
                     /db_xref="GI:21361841"
                     /db_xref="LocusID:56937"
                     /db_xref="MIM:606564"
                     /translation="MHRLMGVNSTAAAAAGQPNVSCTCNCKRSLFQSMEITELEFVQI
                     IIIVVVMMVMVVVITCLLSHYKLSARSFISRHSQGRRREDALSSEGCLWPSESTVSGN
                     GIPEPQVYAPPRPTDRLAVPPFAQRERFHRFQPTYPYLQHEIDLPPTISLSDGEEPPP
                     YQGPCTLQLRDPEQQLELNRESVRAPPNRTIFDSDLMDSARLGGPCPPSSNSGISATC
                     YGSGGRMEGPPPTYSEVIGHYPGSSFQHQQSSGPPSLLEGTRLHHTHIAPLESAAIWS
                     KEKDKQKGHPL"
     variation       856
                     /gene="TMEPAI"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3204622"
     variation       complement(1965)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:14975"
     polyA_signal    2158..2163
                     /gene="TMEPAI"
     polyA_signal    2463..2468
                     /gene="TMEPAI"
     variation       3248
                     /gene="TMEPAI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2235825"
     variation       3691
                     /gene="TMEPAI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3764686"
     variation       3751
                     /gene="TMEPAI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3764687"
     variation       3968
                     /gene="TMEPAI"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1043075"
     variation       4167
                     /gene="TMEPAI"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12929"
     variation       complement(4602)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:10629"
     variation       complement(4673)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12578"
     variation       4686
                     /gene="TMEPAI"
                     /allele="C"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1043118"
     polyA_signal    4818..4823
                     /gene="TMEPAI"
BASE COUNT     1103 a   1313 c   1290 g   1133 t
ORIGIN      
        1 ggaaagctag cggcagaggc tcagccccgg cggcagcgcg cgccccgctg ccagcccatt
       61 ttccggacgc cacccgcggg cactgccgac gcccccgggg ctgccgaggg gaggccgggg
      121 gggcgcagcg gagcgcggtc ccgcgcactg agccccgcgg cgccccggga acttggcggc
      181 gacccgagcc cggcgagccg gggcgcgcct cccccgccgc gcgcctcctg catgcggggc
      241 cccagctccg ggcgccggcc ggagcccccc ccggccgccc ccgagccccc cgcgccccgc
      301 gccgcgccgc cgcgccgtcc atgcaccgct tgatgggggt caacagcacc gccgccgccg
      361 ccgccgggca gcccaatgtc tcctgcacgt gcaactgcaa acgctctttg ttccagagca
      421 tggagatcac ggagctggag tttgttcaga tcatcatcat cgtggtggtg atgatggtga
      481 tggtggtggt gatcacgtgc ctgctgagcc actacaagct gtctgcacgg tccttcatca
      541 gccggcacag ccaggggcgg aggagagaag atgccctgtc ctcagaagga tgcctgtggc
      601 cctcggagag cacagtgtca ggcaacggaa tcccagagcc gcaggtctac gccccgcctc
      661 ggcccaccga ccgcctggcc gtgccgccct tcgcccagcg ggagcgcttc caccgcttcc
      721 agcccaccta tccgtacctg cagcacgaga tcgacctgcc acccaccatc tcgctgtcag
      781 acggggagga gcccccaccc taccagggcc cctgcaccct ccagcttcgg gaccccgagc
      841 agcagctgga actgaaccgg gagtcggtgc gcgcaccccc aaacagaacc atcttcgaca
      901 gtgacctgat ggatagtgcc aggctgggcg gcccctgccc ccccagcagt aactcgggca
      961 tcagcgccac gtgctacggc agcggcgggc gcatggaggg gccgccgccc acctacagcg
     1021 aggtcatcgg ccactacccg gggtcctcct tccagcacca gcagagcagt gggccgccct
     1081 ccttgctgga ggggacccgg ctccaccaca cacacatcgc gcccctagag agcgcagcca
     1141 tctggagcaa agagaaggat aaacagaaag gacaccctct ctagggtccc caggggggcc
     1201 gggctggggc tgcgtaggtg aaaaggcaga acactccgcg cttcttagaa gaggagtgag
     1261 aggaaggcgg ggggcgcagc aacgcatcgt gtggccctcc cctcccacct ccctgtgtat
     1321 aaatatttac atgtgatgtc tggtctgaat gcacaagcta agagagcttg caaaaaaaaa
     1381 aagaaaaaag aaaaaaaaaa accacgtttc tttgttgagc tgtgtcttga aggcaaaaga
     1441 aaaaaaattt ctacagtagt ctttcttgtt tctagttgag ctgcgtgcgt gaatgcttat
     1501 tttcttttgt ttatgataat ttcacttaac tttaaagaca tatttgcaca aaacctttgt
     1561 ttaaagatct gcaatattat atatataaat atatataaga taagagaaac tgtatgtgcg
     1621 agggcaggag tatttttgta ttagaagagg cctattaaaa aaaaaagttg ttttctgaac
     1681 tagaagagga aaaaaatggc aatttttgag tgccaagtca gaaagtgtgt attaccttgt
     1741 aaagaaaaaa attacaaagc aggggtttag agttatttat ataaatgttg agattttgca
     1801 ctatttttta atataaatat gtcagtgctt gcttgatgga aacttctctt gtgtctgttg
     1861 agactttaag ggagaaatgt cggaatttca gagtcgcctg acggcagagg gtgagccccc
     1921 gtggagtctg cagagaggcc ttggccagga gcggcgggct ttcccgaggg gccactgtcc
     1981 ctgcagagtg gatgcttctg cctagtgaca ggttatcacc acgttatata ttccctaccg
     2041 aaggagacac cttttccccc ctgacccaga acagccttta aatcacaagc aaaataggaa
     2101 agttaaccac ggaggcaccg agttccaggt agtggttttg cctttcccaa aaatgaaaat
     2161 aaactgttac cgaaggaatt agtttttcct cttctttttt ccaactgtga aggtccccgt
     2221 ggggtggagc atggtgcccc tcacaagccg cagcggctgg tgcccgggct accagggaca
     2281 tgccagaggg ctcgatgact tgtctctgca gggcgctttg gtggttgttc agctggctaa
     2341 aggttcaccg gtgaaggcag gtgcggtaac tgccgcactg gaccctagga agccccaggt
     2401 attcgcaatc tgacctcctc ctgtctgttt cccttcacgg atcaattctc acttaagagg
     2461 ccaataaaca acccaacatg aaaaggtgac aagcctgggt ttctcccagg ataggtgaaa
     2521 gggttaaaat gagtaaagca gttgagcaaa caccaacccg agcttcgggc gcagaattct
     2581 tcaccttctc ttcccctttc catctccttt ccccgcggaa acaacgcttc ccttctggtg
     2641 tgtctgttga tctgtgtttt catttacatc tctcttagac tccgctcttg ttctccaggt
     2701 tttcaccaga tagatttggg gttggcggga cctgctggtg acgtgcaggt gaaggacagg
     2761 aaggggcatg tgagcgtaaa tagaggtgac cagaggagag catgaggggt ggggctttgg
     2821 gacccaccgg ggccagtggc tggagcttga cgtctttcct ccccatgggg gtgggagggc
     2881 ccccagctgg aagagcagac tcccagctgc taccccctcc cttcccatgg gagtggcttt
     2941 ccattttggg cagaatgctg actagtagac taacataaaa gatataaaag gcaataacta
     3001 ttgtttgtga gcaacttttt tataacttcc aaaacaaaaa cctgagcaca gttttgaagt
     3061 tctagccact cgagctcatg catgtgaaac gtgtgcttta cgaaggtggc agctgacaga
     3121 cgtgggctct gcatgccgcc agcctagtag aaagttctcg ttcattggca acagcagaac
     3181 ctgcctctcc gtgaagtcgt cagcctaaaa tttgtttctc tcttgaagag gattctttga
     3241 aaaggtcctg cagagaaatc agtacaggtt atcccgaaag gtacaaggac gcacttgtaa
     3301 agatgattaa aacgtatctt tcctttatgt gacgcgtctc tagtgcctta ctgaagaagc
     3361 agtgacactc ccgtcgctcg gtgaggacgt tcccggacag tgcctcactc acctgggact
     3421 ggtatcccct cccagggtcc accaagggct cctgcttttc agacacccca tcatcctcgc
     3481 gcgtcctcac cctgtctcta ccagggaggt gcctagcttg gtgaggttac tcctgctcct
     3541 ccaacctttt tttgccaagg tttgtacacg actcccatct aggctgaaaa cctagaagtg
     3601 gaccttgtgt gtgtgcatgg tgtcagccca aagccaggct gagacagtcc tcatatcctc
     3661 ttgagccaaa ctgtttgggt ctcgttgctt catggtatgg tctggatttg tgggaatggc
     3721 tttgcgtgag aaaggggagg agagtggttg ctgccctcag ccggcttgag gacagagcct
     3781 gtccctctca tgacaactca gtgttgaagc ccagtgtcct cagcttcatg tccagtggat
     3841 ggcagaagtt catggggtag tggcctctca aaggctgggc gcatcccaag acagccagca
     3901 ggttgtctct ggaaacgacc agagttaagc tctcggcttc tctgctgagg gtgcaccctt
     3961 tcctctagat ggtagttgtc acgttatctt tgaaaactct tggactgctc ctgaggaggc
     4021 cctcttttcc agtaggaagt tagatggggg ttctcagaag tggctgattg gaaggggaca
     4081 agcttcgttt caggggtctg ccgttccatc ctggttcaga gaaggccgag cgtggctttc
     4141 tctagccttg tcactgtctc cctgcctgtc aatcaccacc tttcctccag aggaggaaaa
     4201 ttatctcccc tgcaaagccc ggttctacac agatttcaca aattgtgcta agaaccgtcc
     4261 gtgttctcag aaagcccagt gtttttgcaa agaatgaaaa gggaccccat atgtagcaaa
     4321 aatcagggct gggggagagc cgggttcatt ccctgtcctc attggtcgtc cctatgaatt
     4381 gtacgtttca gagaaatttt ttttcctatg tgcaacacga agcttccaga accataaaat
     4441 atcccgtcga taaggaaaga aaatgtcgtt gttgttgttt ttctggaaac tgcttgaaat
     4501 cttgctgtac tatagagctc agaaggacac agcccgtcct cccctgcctg cctgattcca
     4561 tggctgttgt gctgattcca atgctttcac gttggttcct ggcgtgggaa ctgctctcct
     4621 ttgcagcccc atttcccaag ctctgttcaa gttaaactta tgtaagcttt ccgtggcatg
     4681 cggggcgcgc acccacgtcc ccgctgcgta agactctgta tttggatgcc aatccacagg
     4741 cctgaagaaa ctgcttgttg tgtatcagta atcattagtg gcaatgatga cattctgaaa
     4801 agctgcaata cttatacaat aaattttaca attctttgg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 EST FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default        
 
 

1: AI678681. tu58f04.x1 NCI_CG...[gi:4888863] Links  


IDENTIFIERS

dbEST Id:       2578461
EST name:       tu58f04.x1
GenBank Acc:    AI678681
GenBank gi:     4888863

CLONE INFO
Clone Id:       IMAGE:2255263 (3')
Source:         NCI
Insert length:  3030
DNA type:       cDNA

PRIMERS
Sequencing:     -40UP from Gibco
PolyA Tail:     Unknown

SEQUENCE
                TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGGGAA
                GCAAAACTTTATTCCTTTTGGCTGGAAAAAAAAACTAGGGGGGGGTTGGGTACAGGACCC
                CCATCCCTCACCCCTCCCAAAACCAAAAAAAACAAGCAGGGCCCCCAAAGGGCTCCCTTT
                GCCCAAGTGAAAGCCCAAAGGTCANCGGTTGGCTGGGGAGGCAGGTTAACCCCAACCACG
                GCACAGGGCAGGGGCGGTTGCATTGACAGGCGGGCGGCCAGGGCGGCCCAGGGGCCGGGG
                TTGAGGGGAAAAGGGCGGGGCTTTTTGGTTAGCGGGGCAAGCTTGGGGGCTGCCGGTTGG
                CACGGGCCCCAAACTTAGGGCACCACAACCCGGTAGGGGCTGCCTGGGATGTGCTCGTCC
                CCCCATTTGACCACCAGGGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAA
                AGCCGGTTGCCCACGTGCTTTACCAGGATCTCCTGGGAGGGGTCCTTGGGCCATGAACCC
                CCACCAACAAGAATGTGTTGCCTGCTTTGCTTGAAACTACTGGGAAGCTGCTTTTTTGGC
                CTAGGAGGGCTTTGCTAGCCCCAGCCCTTGGCCACCAACCTTGTTGCGTAGGAGGCCCCA
                GACCCCGGGCCCCATTTCCTGGGGGCCCCGGTGGGCCTTGGTCAGAGGTTAC
Quality:        High quality sequence stops at base: 352

Entry Created:  May 26 1999
Last Updated:   Dec 15 1999

COMMENTS
                Tissue Procurement: Christopher Moskaluk, M.D., Ph.D.,
                Michael R. Emmert-Buck, M.D., Ph.D.
                cDNA Library Preparation: Life Technologies, Inc.
                cDNA Library Arrayed by: Greg Lennon, Ph.D.
                DNA Sequencing by: Washington University Genome Sequencing
                Center
                Clone distribution: NCI-CGAP clone distribution information
                can be found through the I.M.A.G.E. Consortium/LLNL at:
                www-bio.llnl.gov/bbrp/image/image.html

PUTATIVE ID     Assigned by submitter
                gb:X53416 ENDOTHELIAL ACTIN-BINDING PROTEIN (HUMAN);

LIBRARY
Lib Name:       NCI_CGAP_Gas4
Organism:       Homo sapiens
Organ:          stomach
Tissue type:    poorly differentiated adenocarcinoma with signet ring cell
                features
Lab host:       DH10B
Vector:         pCMV-SPORT6
R. Site 1:      SalI
R. Site 2:      NotI
Description:    Cloned unidirectionally. Primer: Oligo dT. Average insert
                size 1.69 kb. Life Technologies catalog #: 11549-011

SUBMITTER
Name:           Robert Strausberg, Ph.D.
E-mail:         cgapbs-r@mail.nih.gov

CITATIONS
Title:          National Cancer Institute, Cancer Genome Anatomy Project
                (CGAP), Tumor Gene Index
Authors:        NCI-CGAP http://www.ncbi.nlm.nih.gov/ncicgap
Year:           1997
Status:         Unpublished


MAP DATA
--------------------------------------------------------------------------------



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

TaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  


&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004518. Homo sapiens pota...[gi:4758627] Links  


LOCUS       KCNQ2                   7420 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens potassium voltage-gated channel, KQT-like subfamily,
            member 2 (KCNQ2), mRNA.
ACCESSION   NM_004518
VERSION     NM_004518.1  GI:4758627
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7420)
  AUTHORS   Yokoyama,M., Nishi,Y., Yoshii,J., Okubo,K. and Matsubara,K.
  TITLE     Identification and cloning of neuroblastoma-specific and nerve
            tissue-specific genes through compiled expression profiles
  JOURNAL   DNA Res. 3 (5), 311-320 (1996)
  MEDLINE   97191543
   PUBMED   9039501
REFERENCE   2  (bases 1 to 7420)
  AUTHORS   Singh,N.A., Charlier,C., Stauffer,D., DuPont,B.R., Leach,R.J.,
            Melis,R., Ronen,G.M., Bjerre,I., Quattlebaum,T., Murphy,J.V.,
            McHarg,M.L., Gagnon,D., Rosales,T.O., Peiffer,A., Anderson,V.E. and
            Leppert,M.
  TITLE     A novel potassium channel gene, KCNQ2, is mutated in an inherited
            epilepsy of newborns
  JOURNAL   Nat. Genet. 18 (1), 25-29 (1998)
  MEDLINE   98085864
   PUBMED   9425895
REFERENCE   3  (bases 1 to 7420)
  AUTHORS   Biervert,C., Schroeder,B.C., Kubisch,C., Berkovic,S.F.,
            Propping,P., Jentsch,T.J. and Steinlein,O.K.
  TITLE     A potassium channel mutation in neonatal human epilepsy
  JOURNAL   Science 279 (5349), 403-406 (1998)
  MEDLINE   98092527
   PUBMED   9430594
REFERENCE   4  (bases 1 to 7420)
  AUTHORS   Yang,W.P., Levesque,P.C., Little,W.A., Conder,M.L.,
            Ramakrishnan,P., Neubauer,M.G. and Blanar,M.A.
  TITLE     Functional expression of two KvLQT1-related potassium channels
            responsible for an inherited idiopathic epilepsy
  JOURNAL   J. Biol. Chem. 273 (31), 19419-19423 (1998)
  MEDLINE   98344027
   PUBMED   9677360
REFERENCE   5  (bases 1 to 7420)
  AUTHORS   Smith,J.S., Iannotti,C.A., Dargis,P., Christian,E.P. and Aiyar,J.
  TITLE     Differential expression of kcnq2 splice variants: implications to m
            current function during neuronal development
  JOURNAL   J. Neurosci. 21 (4), 1096-1103 (2001)
  MEDLINE   21114072
   PUBMED   11160379
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from Y15065.1.
FEATURES             Location/Qualifiers
     source          1..7420
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.3"
     gene            1..7420
                     /gene="KCNQ2"
                     /note="EBN; BFNC; EBN1; ENB1"
                     /db_xref="LocusID:3785"
                     /db_xref="MIM:602235"
     CDS             43..2577
                     /gene="KCNQ2"
                     /codon_start=1
                     /product="potassium voltage-gated channel, KQT-like
                     subfamily, member 2"
                     /protein_id="NP_004509.1"
                     /db_xref="GI:4758628"
                     /db_xref="LocusID:3785"
                     /db_xref="MIM:602235"
                     /translation="MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAG
                     SEAPKRGSILSKPRAGGAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLL
                     VFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGR
                     LKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTW
                     KLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLT
                     TIGYGDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRN
                     PAAGLIQSAWRFYATNLSRTDLHSTWQYYERTVTVPMYRLIPPLNQLELLRNLKSKSG
                     LAFRKDPPPEPSPSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPS
                     KVPKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGL
                     KVSIRAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVG
                     RGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPP
                     TETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPV
                     QCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQ
                     EDTPGCRPPEGTLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAP
                     CAKVRPYIAEGESDTDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK"
     misc_feature    415..978
                     /gene="KCNQ2"
                     /note="Region: pfam00520, ion_trans, Ion transport
                     protein. This family contains Sodium, Potassium, Calcium
                     ion channels. This family is 6 transmembrane helices in
                     which the last two helices flank a loop which determines
                     ion selectivity. In some sub-families (e.g. Na channels)
                     the domain is repeated four times, whereas in others (e.g.
                     K channels) the protein forms as a tetramer in the
                     membrane. A bacterial structure of the protein is known
                     for the last two helices but is not the Pfam family due to
                     it lacking the first four helices"
     misc_feature    1567..1974
                     /gene="KCNQ2"
                     /note="Region: pfam03520, KCNQ1_channel, KCNQ1
                     voltage-gated potassium channel"
     variation       1461
                     /gene="KCNQ2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1801545"
     variation       2196
                     /gene="KCNQ2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1801471"
     variation       2196
                     /gene="KCNQ2"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3746365"
     variation       2222
                     /gene="KCNQ2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3746366"
     variation       2297
                     /gene="KCNQ2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1801475"
     variation       complement(2514)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3810472"
     variation       2581
                     /gene="KCNQ2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1801508"
     variation       4693
                     /gene="KCNQ2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3746368"
     variation       4808
                     /gene="KCNQ2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3746369"
     variation       4844
                     /gene="KCNQ2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3746370"
     variation       4890
                     /gene="KCNQ2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3746371"
     variation       complement(5450)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2281568"
     variation       6941
                     /gene="KCNQ2"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3746372"
BASE COUNT     1366 a   2325 c   2354 g   1368 t      7 others
ORIGIN      
        1 gctgagcctg agcccgaccc ggggcgcctc ccgccaggca ccatggtgca gaagtcgcgc
       61 aacggcggcg tataccccgg cccgagcggg gagaagaagc tgaaggtggg cttcgtgggg
      121 ctggaccccg gcgcgcccga ctccacccgg gacggggcgc tgctgatcgc cggctccgag
      181 gcccccaagc gcggcagcat cctcagcaaa cctcgcgcgg gcggcgcggg cgccgggaag
      241 ccccccaagc gcaacgcctt ctaccgcaag ctgcagaatt tcctctacaa cgtgctggag
      301 cggccgcgcg gctgggcgtt catctaccac gcctacgtgt tcctcctggt tttctcctgc
      361 ctcgtgctgt ctgtgttttc caccatcaag gagtatgaga agagctcgga gggggccctc
      421 tacatcctgg aaatcgtgac tatcgtggtg tttggcgtgg agtacttcgt gcggatctgg
      481 gccgcaggct gctgctgccg gtaccgtggc tggagggggc ggctcaagtt tgcccggaaa
      541 ccgttctgtg tgattgacat catggtgctc atcgcctcca ttgcggtgct ggccgccggc
      601 tcccagggca acgtctttgc cacatctgcg ctccggagcc tgcgcttcct gcagattctg
      661 cggatgatcc gcatggaccg gcggggaggc acctggaagc tgctgggctc tgtggtctat
      721 gcccacagca aggagctggt cactgcctgg tacatcggct tcctttgtct catcctggcc
      781 tcgttcctgg tgtacttggc agagaagggg gagaacgacc actttgacac ctacgcggat
      841 gcactctggt ggggcctgat cacgctgacc accattggct acggggacaa gtacccccag
      901 acctggaacg gcaggctcct tgcggcaacc ttcaccctca tcggtgtctc cttcttcgcg
      961 ctgcctgcag gcatcttggg gtctgggttt gccctgaagg ttcaggagca gcacaggcag
     1021 aagcactttg agaagaggcg gaacccggca gcaggcctga tccagtcggc ctggagattc
     1081 tacgccacca acctctcgcg cacagacctg cactccacgt ggcagtacta cgagcgaacg
     1141 gtcaccgtgc ccatgtacag acttatcccc ccgctgaacc agctggagct gctgaggaac
     1201 ctcaagagta aatctggact cgctttcagg aaggaccccc cgccggagcc gtctccaagc
     1261 cagaaggtca gtttgaaaga tcgtgtcttc tccagccccc gaggcgtggc tgccaagggg
     1321 aaggggtccc cgcaggccca gactgtgagg cggtcaccca gcgccgacca gagcctcgag
     1381 gacagcccca gcaaggtgcc caagagctgg agcttcgggg accgcagccg ggcacgccag
     1441 gctttccgca tcaagggtgc cgcgtcacgg cagaactcag aagaagcaag cctccccgga
     1501 gaggacattg tggatgacaa gagctgcccc tgcgagtttg tgaccgagga cctgaccccg
     1561 ggcctcaaag tcagcatcag agccgtgtgt gtcatgcggt tcctggtgtc caagcggaag
     1621 ttcaaggaga gcctgcggcc ctacgacgtg atggacgtca tcgagcagta ctcagccggc
     1681 cacctggaca tgctgtcccg aattaagagc ctgcagtcca gagtggacca gatcgtgggg
     1741 cggggcccag cgatcacgga caaggaccgc accaagggcc cggccgaggc ggagctgccc
     1801 gaggacccca gcatgatggg acggctcggg aaggtggaga agcaggtctt gtccatggag
     1861 aagaagctgg acttcctggt gaatatctac atgcagcgga tgggcatccc cccgacagag
     1921 accgaggcct actttggggc caaagagccg gagccggcgc cgccgtacca cagcccggaa
     1981 gacagccggg agcatgtcga caggcacggc tgcattgtca agatcgtgcg ctccagcagc
     2041 tccacgggcc agaagaactt ctcggcgccc ccggccgcgc cccctgtcca gtgtccgccc
     2101 tccacctcct ggcagccaca gagccacccg cgccagggcc acggcacctc ccccgtgggg
     2161 gaccacggct ccctggtgcg catcccgccg ccgcctgccc acgagcggtc gctgtccgcc
     2221 tacggcgggg gcaaccgcgc cagcatggag ttcctgcggc aggaggacac cccgggctgc
     2281 aggccccccg aggggaccct gcgggacagc gacacgtcca tctccatccc gtccgtggac
     2341 cacgaggagc tggagcgttc cttcagcggc ttcagcatct cccagtccaa ggagaacctg
     2401 gatgctctca acagctgcta cgcggccgtg gcgccttgtg ccaaagtcag gccctacatt
     2461 gcggagggag agtcagacac cgactccgac ctctgtaccc cgtgcgggcc cccgccacgc
     2521 tcggccaccg gcgagggtcc ctttggtgac gtgggctggg ccgggcccag gaagtgaggc
     2581 ggcgctgggc cagtggaccc gcccgcggcc ctcctcagca cggtgcctcc gaggttttga
     2641 ggcgggaacc ctctggggcc cttttcttac agtaactgag tgtggcggga agggtgggcc
     2701 ctggaggggc ccatgtgggc tgaaggatgg gggctcctgg cagtgacctt ttacaaaagt
     2761 tattttccaa cagggcactc ccaggccctg tcgccattga ggtgcctccg ctgggctgtc
     2821 tcctcacccc tccctgtgct ggagcctgtc ccaaaaaggt gccaactggg aggcctcgga
     2881 agccactgtc caggctccca ctgcctgtct gctctgttcc caaaggcagc gtgtgtggcc
     2941 tcgggccctg cggtggcatg aagcatccct tctggtgtgg gcatcgctac gtgttttggg
     3001 ggcagcgttt cacggcggtg cccttgctgt ctcccttggg ctggctcgag cctggggtcc
     3061 atgtcccttt gccgtcccgt catggggcag ggaatccata gcggggccca caggcagggg
     3121 tatgagtgcg tcccacccaa cgcagcacca gccccggcca ccgctccccg tgtccccagt
     3181 tccgtctcag ctacctggac tccaggaccc tggagaaggg agacctggca gtggagggag
     3241 gctgtgctgt gtgtccccct gcaggtgtga ccccgcctgc tctttcctcc cccgccaggt
     3301 gtggccccgc ctgctctttc ctcccccacc agtatggccc cacctgctct ttcctncccc
     3361 cccaaggtgt ggccccacct gttctttcct cccctgccga ggtgtgaccc cacctgctct
     3421 ttcctccctc ccagtatggc cccacctgct ctttcctccc ccgaggtgag gccccgcctg
     3481 ctctttcctc ccatgggagc cgctgaggcg tgcgcacctg ggcacaggtt ggggctctgc
     3541 aggatgagga agacaggcca atcccttccc tcccagaagc tggccgccca gcaggaggga
     3601 ctgaggccag actcatgtcc agcaaggaac gtgtggtgtg tcccctggga agtctctggg
     3661 ccctgggaag agggaaggtg cacgtcctgg gatggttgcg gggccctgtt ttgggagaca
     3721 aaggggtaga gggtctgtct tgngcccccc cagactctag cccgagcagt gcagccacct
     3781 actgccccac ctcagagaag tgcagcggga aggaggctgg aggtggtgcg gcgctgcctc
     3841 gggtgtctgc gtgaatgagc gtggccaagg accagtgcca cctcatggca aagagctccc
     3901 gcagtgtttg ttagagtgca catcctacgt gcccactggc acacacacgt gctcacatac
     3961 angtcngngt acaggngtac acatgcangc ttgcacacat gcacacagac cacatagcac
     4021 acatgtgcac tgaccacacc tgtatagacc atgcacagta cacatacgtg catacacatg
     4081 cctgcataca ggcatacaca tgcacgctta catgtacacg tgcacagatc acacacatgc
     4141 acacacgtgt agctcacaca cagtatacac atacacaagt gcacagacca cacacagcac
     4201 taacacatgc acacacaaag tgcataggcc acacagcaca tgcacacagg tgcacagacc
     4261 acacagcaca cacaagtgca cagagcacac tgcacacatg cacacacaca cgcgtgcatg
     4321 cacactcctc gcacttccag ccttggagcc cttctgtctc tggtctttct ctttgaccct
     4381 gctgagtgta agctgcctgg ggaggggcta caaggagtaa ttgtggcttt aggggtcgtg
     4441 gtgatgctgg aatgtcaagc gccgtcgtgg ggtatccgac tgtccgggct cctggtccgc
     4501 agtggcagag cgccaggcag agccaatcag ggtctcgtgc tgcccttccc ccccacagcc
     4561 tggcagccat ccagaggagg ggctctacca gatgccaagg tgccccggtg tctgtatggg
     4621 tgtccggttg ggtcctgtgt ttggtctgcc ctggaggtgg ctgggccctc ctgggatggg
     4681 tggctcagcc tcgaatccca ggccccagcc caggcaggtg ctgctgcctg ttgtggtttc
     4741 ctggcccagc ttctccttct ccctctgcat aaaatcacag tccgtgagtc ttccagctgc
     4801 caccacggct gggacacgct gggggagggc tcctcccatg cctcctgcac acagccgtct
     4861 gagcagggca ggtgccaaca ccccccaccg gagacacgct gcccctcagc gatgccccta
     4921 ccttttgggg ggcctcgtct caagcccccc cttggaggct gaaatcaccc caggcactgt
     4981 gagggcttct ccagggggac accctttgag ctgtgggtct gatcacccca agtcccgcac
     5041 acggaggaga ggcacagcca gggcgtgtgg tttaatgttt gccccttcgg ggctggaggt
     5101 ctcagtgttt ctagattcca gaccctgctg ccagagagac ctgctgccgg agagaagggg
     5161 aggaggactc cagctgggct cggtccccca cagtcaggga cccccataaa ggacaccccc
     5221 ttctctctag aaagagctgg gctctcagct atttctagtt gcttcccaga agccgaggag
     5281 cagaaggagc tgtgagagct ttgcagaaac gcccttgtcc ccgccctcct gagctatgaa
     5341 tgccgtacag agcagaggct ggggcattgg caagatcaca ggttgatgct gcacagcccc
     5401 attgacacaa accctcaaag cagacgtgag agggacggtt cacaaagctt ggacctgccg
     5461 tggagggtgc ccggcagacg tggcgtgaga gggacggctc acgaggcttg gacctgctgt
     5521 ggagggtgcc cagcagacgt ggtgtgagag gaacggctca cgagacttgg acctggtgga
     5581 gggtgcccag cagacgtggt gtgagaggga cggctcacag ggcttggacc ggagagagat
     5641 ggctcatgag acttggacct gccgtggagg gtgcccagca gacgtggtat gagagggatg
     5701 gctcacgagg cttggacctg gtggagggtg cccggcagac gtgtgagagg gacggttcac
     5761 aaggcttgga cctgccatgg agggtgccca gcagacgtgg tgtgagaggg acagctcacg
     5821 aggcttggac ctgccgtgga gggtgcccag cagggggctg agctctgagg ggtgggtgct
     5881 cagtgcacgg gtgcccccag tgtcctctga tcctgtccgg tgcctccccc aacccccaca
     5941 cccatgcaga actcccaggt cacatgcacg tatgtccagg gcatgggggt ggcgtgaaga
     6001 ggcctggtca gggcctttag gggctgcagg acggaatggc cacctgggga gcctgtgtgg
     6061 ctgtgccggg cagccatcct gcattcccac ccagcgcgca gtctccacct cggccccagc
     6121 aaagcgctaa gcagccggag agacagccag ggcggcttcc tgaaggatgt gggatggtgg
     6181 actccggggt cgagggaata cgcaggttcc tgtcctccgg gagacctaga gaagctgcac
     6241 acccaggagc tttccatgac ccgggagcat gagtgaatgg ggggttccag tttgctgaac
     6301 tttgctgtct tgtaagggtg ggggctgacg gccgaccctg ggaggaggtg acaccgcagg
     6361 gggaggttgt gggcaacggt ggaggaggag agacgggagg ggaccatttg ggatggaggg
     6421 gcctcttcag agttttaaaa ggcgtttgtg gggtggagtt gagtgtgctc tgggcttgga
     6481 cacttgccgt ggtgcccctg gctggccgag gagactggct ctggccaggg ccccgtcctg
     6541 agaggtcctc agcgtctgac tctcggccag gcgccagcaa ggaggggccg gtccccgggg
     6601 ctaccaggca ggcacgtgca catcgccatc gccacacgcc aactccgcct gggttttaca
     6661 aagtcgttgc cttaatgcat gtggacagga actccctgag gtcgccccat gccccctggc
     6721 tgtgccaggt acggacgccc tggaccctgc gaacaggtgg ggcgggcgag gggcccaagg
     6781 gacgggctcc agagacacgc gcagggcagg aggggtctca cggaggggtc tcgcactgag
     6841 gcgcccagag ctggtggtcc cgctggacgc catccctctg cccgggatcc acacggccca
     6901 cgtgtgcccg ccatgcccgc gccccacgcc attgcagtct tccatcctct ggccgtgacg
     6961 gtggctgcag cttccccatt tgcgccgttg cctctggctg tctgcacttt tgttcatgct
     7021 ccaaagaaca tttcataatg ccttcagtac cgacgtacac ttctgaccat tttgtatgtg
     7081 tccttgtgcc gtagtgacca ggcctttttt tggtggatgt gttaccccgc acacttcaat
     7141 ctcaactttg tgcaccgtcc attttctagg gatagacgcc cagggaatga actctagttt
     7201 tctaacagat tagctgagat attaacttac tcacacggac aggttgatgc cagagccgta
     7261 agaatgcgcc agtgcgggtt tgcgggggac ttcgggtgtg gggtcctgcg gccgcgatgg
     7321 ccgtggaagg ttctggggat ccctgctgcc acggggacga gttcggacgc caggtggacc
     7381 tgtgcactca gtaaaacgca gtgattcaaa aaaaaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_022138. Homo sapiens secr...[gi:24308276] Links  


LOCUS       SMOC2                   2947 bp    mRNA    linear   PRI 24-OCT-2002
DEFINITION  Homo sapiens secreted modular calcium-binding protein 2 (SMOC2),
            mRNA.
ACCESSION   NM_022138
VERSION     NM_022138.1  GI:24308276
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2947)
  AUTHORS   Nishimoto,S., Hamajima,Y., Toda,Y., Toyoda,H., Kitamura,K. and
            Komurasaki,T.
  TITLE     Identification of a novel smooth muscle associated protein, smap2,
            upregulated during neointima formation in a rat carotid
            endarterectomy model
  JOURNAL   Biochim. Biophys. Acta 1576 (1-2), 225-230 (2002)
  MEDLINE   22027177
   PUBMED   12031507
REFERENCE   2  (sites)
  AUTHORS   Nishimoto,S., Toyoda,H., Tawara,J., Aoki,T. and Komurasaki,T.
  TITLE     Molecular cloning and characterization of human smooth muscle cell
            associated protein-2b(SMAP-2b)
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB014737.1.
FEATURES             Location/Qualifiers
     source          1..2947
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q27"
                     /tissue_type="heart"
     gene            1..2947
                     /gene="SMOC2"
                     /note="SMAP2"
                     /db_xref="LocusID:64094"
                     /db_xref="MIM:607223"
     CDS             21..1394
                     /gene="SMOC2"
                     /note="signal sequence, thyroglobulin type-1 repeat,
                     EF-hand calcium binding motif; smooth muscle associated
                     protein 2"
                     /codon_start=1
                     /product="secreted modular calcium-binding protein 2"
                     /protein_id="NP_071421.1"
                     /db_xref="GI:24308277"
                     /db_xref="LocusID:64094"
                     /db_xref="MIM:607223"
                     /translation="MLLPQLCWLPLLAGLLPPVPAQKFSALTFLRVDQDKDKDCSLDC
                     AGSPQKPLCASDGRTFLSRCEFQRAKCKDPQLEIAYRGNCKDVSRCVAERKYTQEQAR
                     KEFQQVFIPECNDDGTYSQVQCHSYTGYCWCVTPNGRPISGTAVAHKTPRCPGSVNEK
                     LPQREGTGKTVSLQIFSVLNSDDAAAPALETQPQGDEEDIASRYPTLWTEQVKSRQNK
                     TNKNSVSSCDQEHQSALEEAKQPKNDNVVIPECAHGGLYKPVQCHPSTGYCWCVLVDT
                     GRPIPGTSTRYEQPKCDNTARAHPAKARDLYKGRQLQGCPGAKKHEFLTSVLDALSTD
                     MVHAASDPSSSSGRLSEPDPSHTLEERVVHWYFKLLDKNSSGDIGKKEIKPFKRFLRK
                     KSKPKKCVKKFVEYCDVNNDKSISVQELMGCLGVAKEDGKADTKKRHTPRGHAESTSN
                     RQPRKQG"
     misc_feature    135..272
                     /gene="SMOC2"
                     /note="KAZAL; Region: Kazal type serine protease
                     inhibitors"
                     /db_xref="CDD:smart00280"
     misc_feature    168..272
                     /gene="SMOC2"
                     /note="kazal; Region: Kazal-type serine protease inhibitor
                     domain. Usually indicative of serine protease inhibitors.
                     However, kazal-like domains are also seen in the
                     extracellular part of agrins, which are not known to be
                     protease inhibitors. Kazal domains often occur in tandem
                     arrays. Small alpha+beta fold containing three
                     disulphides. Alignment also includes a single domain from
                     transporters in the OATP/PGT family"
                     /db_xref="CDD:pfam00050"
     misc_feature    297..479
                     /gene="SMOC2"
                     /note="thyroglobulin_1; Region: Thyroglobulin type-1
                     repeat. Thyroglobulin type 1 repeats are thought to be
                     involved in the control of proteolytic degradation. The
                     domain usually contains six conserved cysteines. These
                     form three disulphide bridges. Cysteines 1 pairs with 2, 3
                     with 4 and 5 with 6"
                     /db_xref="CDD:pfam00086"
     misc_feature    348..488
                     /gene="SMOC2"
                     /note="TY; Region: Thyroglobulin type I repeats"
                     /db_xref="CDD:smart00211"
     misc_feature    699..896
                     /gene="SMOC2"
                     /note="thyroglobulin_1; Region: Thyroglobulin type-1
                     repeat. Thyroglobulin type 1 repeats are thought to be
                     involved in the control of proteolytic degradation. The
                     domain usually contains six conserved cysteines. These
                     form three disulphide bridges. Cysteines 1 pairs with 2, 3
                     with 4 and 5 with 6"
                     /db_xref="CDD:pfam00086"
     misc_feature    762..899
                     /gene="SMOC2"
                     /note="TY; Region: Thyroglobulin type I repeats"
                     /db_xref="CDD:smart00211"
     polyA_site      2947
                     /gene="SMOC2"
                     /note="34 A nucleotides"
BASE COUNT      766 a    749 c    727 g    705 t
ORIGIN      
        1 ctcccgccac ctccgccacc atgctgctcc cccagctctg ctggctgccg ctgctcgctg
       61 ggctgctccc gccggtgccc gctcagaagt tctcggcgct cacgtttttg agagtggatc
      121 aagataaaga caaggattgt agcttggact gtgcgggttc gccccagaaa cctctctgcg
      181 catctgacgg aaggaccttc ctttcccgtt gtgaatttca acgtgccaag tgcaaagatc
      241 cccagctaga gattgcatat cgaggaaact gcaaagacgt gtccaggtgt gtggccgaaa
      301 ggaagtatac ccaggagcaa gcccggaagg agtttcagca agtgttcatt cctgagtgca
      361 atgacgacgg cacctacagt caggtccagt gtcacagcta cacgggatac tgctggtgcg
      421 tcacgcccaa cgggaggccc atcagcggca ctgccgtggc ccacaagacg ccccggtgcc
      481 cgggttccgt aaatgaaaag ttaccccaac gcgaaggcac aggaaaaaca gtctccttgc
      541 aaatcttttc cgttctgaat tcagatgatg ccgcagctcc agcgttggag actcagcctc
      601 aaggagatga agaagatatt gcatcacgtt accctaccct ttggactgaa caggttaaaa
      661 gtcggcagaa caaaaccaat aagaattcag tgtcatcctg tgaccaagag caccagtctg
      721 ccctggagga agccaagcag cccaagaacg acaatgtggt gatccctgag tgtgcgcacg
      781 gcggcctcta caagccagtg cagtgccacc cctccacggg gtactgctgg tgcgtcctgg
      841 tggacacggg gcgccccatt cccggcacat ccacaaggta cgagcagccg aaatgtgaca
      901 acacggccag ggcccaccca gccaaagccc gggacctgta caagggccgc cagctacaag
      961 gttgtccggg tgccaaaaag catgagtttc tgaccagcgt tctggacgcg ctgtccacgg
     1021 acatggtcca cgccgcctcc gacccctcct cctcgtcagg caggctctca gaacccgacc
     1081 ccagccatac cctagaggag cgggtggtgc actggtactt caaactactg gataaaaact
     1141 ccagcggaga catcggcaaa aaggaaatca aacccttcaa gaggttcctt cgcaaaaaat
     1201 caaagcccaa aaaatgtgtg aagaagtttg ttgaatactg tgacgtgaat aatgacaaat
     1261 ccatctccgt acaagaactg atgggctgcc tgggcgtggc gaaagaggac ggcaaagcgg
     1321 acaccaagaa acgccacacc cccagaggtc atgctgaaag tacgtctaat agacagccaa
     1381 ggaaacaagg ataaatggct cataccccga aggcagttcc tagacacatg ggaaatttcc
     1441 ctcaccaaag agcaattaag aaaacaaaaa cagaaacaca tagtatttgc actttgtact
     1501 ttaaatgtaa attcactttg tagaaatgag ctatttaaac agactgtttt aatctgtgaa
     1561 aatggagagc tggcttcaga aaattaatca catacaatgt atgtgtcctc ttttgacctt
     1621 ggaaatctgt atgtggtgga gaagtatttg aatgcattta ggcttaattt cttcgccttc
     1681 cacatgttaa cagtagagct ctatgcactc cggctgcaat cgtatggctt tctctaaccc
     1741 ctgcagtcac ttccagatgc ctgtgcttac agcattgtgg aatcatgttg gaagctccac
     1801 atgtccatgg aagtttgtga tgtacggccg accctacagg cagttaacat gcatgggctg
     1861 gtttgtttct tgggattttc ttttagtttg tcttgttttg ctttccagag atcttgctca
     1921 tacaatgaat cacgcaacca ctaaagctat ccagttaagt gcaggtagtt cccctggagg
     1981 aaataatatt ttcaaactgt cgttggtgtg atactttggc tcaaaggatc tttgcttttc
     2041 cattttaagc ttctgttttg agttttgccc tggggcttga atgagtccca gagagtcgtt
     2101 ccgatggtgg gaggctgcct aggaggcagt aaatccagtc acagtgcctg ggaggggccc
     2161 atccttccaa aatgtaaatc cagtcgcggt gtgaccgagc tggctaacag gcttgtctgc
     2221 ctggttttcc tcctacacat ggacattatt ctcctgatcc tcctacctgg tccaccccag
     2281 ggctaccgga aggtaaaatc ttcacctgaa ccaattatga gcagtctcct tactgaaggt
     2341 acagccggat acgtggtgcc cccggggctg gtgttggcag ccggggggag gtgcctgagg
     2401 gtccccacgg ttcctttctg cttttctgaa tgcatcaagg gtacgagaac ttgccaatgg
     2461 gaaattcatc cgagtggcac tggcagagaa ggataggagt ggaatgccca cacagtgacc
     2521 aacagaactg gtctgcgtgc ataaccagct gccaccctca ggcctgggcc ccagagctca
     2581 gggcacccag tgtcttaagg aaccatttgg aggacagtct gagagcagga acttcaagct
     2641 gtgattctat ctcggctcag acttttggtt ggaaaaagat cttcatggcc ccaaatcccc
     2701 tgagacatgc cttgtagaat gattttgtga tgttgtgatg cttgtggagc atcgcgtaag
     2761 gcttcttgct tatttaaact gtgcaaggta aaaatcaagc ctttggagcc acagaaccag
     2821 ctcaagtaca tgccaatgtt gtttaagaaa cagttatgat cctaaacttt ttggataatc
     2881 ttttatattt ctgacctttg aatttaatca ttgttcttag attaaaataa aatatgctat
     2941 tgaaact
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesOMIMOMIMProteinProteinPubMedPubMedTaxonomyTaxonomyUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_007080. Homo sapiens Sm p...[gi:5901997] Links  


LOCUS       LSM6                     596 bp    mRNA    linear   PRI 10-OCT-2002
DEFINITION  Homo sapiens Sm protein F (LSM6), mRNA.
ACCESSION   NM_007080
VERSION     NM_007080.1  GI:5901997
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 596)
  AUTHORS   Salgado-Garrido,J., Bragado-Nilsson,E., Kandels-Lewis,S. and
            Seraphin,B.
  TITLE     Sm and Sm-like proteins assemble in two related complexes of deep
            evolutionary origin
  JOURNAL   EMBO J. 18 (12), 3451-3462 (1999)
  MEDLINE   99298196
   PUBMED   10369684
REFERENCE   2  (bases 1 to 596)
  AUTHORS   Achsel,T., Brahms,H., Kastner,B., Bachi,A., Wilm,M. and Luhrmann,R.
  TITLE     A doughnut-shaped heteromer of human Sm-like proteins binds to the
            3'-end of U6 snRNA, thereby facilitating U4/U6 duplex formation in
            vitro
  JOURNAL   EMBO J. 18 (20), 5789-5802 (1999)
  MEDLINE   99452783
   PUBMED   10523320
REFERENCE   3  (bases 1 to 596)
  AUTHORS   Salgado-Garrido,J., Bragado-Nilsson,E., Kandels-Lewis,S. and
            Seraphin,B.
  TITLE     Sm and Sm-like proteins assemble in two related complexes of deep
            evolutionary origin
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AJ238098.1.
FEATURES             Location/Qualifiers
     source          1..596
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.21"
                     /clone="IMAGE Consortium CloneID 704476"
                     /tissue_type="germinal center B cell"
                     /clone_lib="NCI_CGAP_GCB1"
     gene            1..596
                     /gene="LSM6"
                     /db_xref="LocusID:11157"
                     /db_xref="MIM:607286"
     CDS             82..324
                     /gene="LSM6"
                     /codon_start=1
                     /product="Sm protein F"
                     /protein_id="NP_009011.1"
                     /db_xref="GI:5901998"
                     /db_xref="LocusID:11157"
                     /db_xref="MIM:607286"
                     /translation="MSLRKQTPSDFLKQIIGRPVVVKLNSGVDYRGVLACLDGYMNIA
                     LEQTEEYVNGQLKNKYGDAFIRGNNVLYISTQKRRM"
     misc_feature    109..303
                     /gene="LSM6"
                     /note="Sm; Region: Sm protein. The U1, U2, U4/U6, and U5
                     small nuclear ribonucleoprotein particles (snRNPs)
                     involved in pre-mRNA splicing contain seven Sm proteins
                     (B/B', D1, D2, D3, E, F and G) in common, which assemble
                     around the Sm site present in four of the major
                     spliceosomal small nuclear RNAs. The U6 snRNP binds to the
                     LSM (Like Sm) proteins. Sm proteins are also found in
                     archaebacteria, which do not have any splicing apparatus
                     suggesting a more general role for Sm proteins. All Sm
                     proteins contain a common sequence motif in two segments,
                     Sm1 and Sm2, separated by a short variable linker"
                     /db_xref="CDD:pfam01423"
     misc_feature    109..303
                     /gene="LSM6"
                     /note="Sm; Region: snRNP Sm proteins"
                     /db_xref="CDD:smart00651"
     variation       407
                     /gene="LSM6"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7745"
     variation       complement(524)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:14839"
     polyA_signal    561..566
                     /gene="LSM6"
     polyA_site      579
                     /gene="LSM6"
BASE COUNT      184 a     91 c    139 g    182 t
ORIGIN      
        1 tggctgggat catccgcggc ggccgggctc gtggggcgcc tggagtgagg gttctggttc
       61 ccgccggcga ggattgttaa aatgagtctt cggaagcaaa cccctagtga cttcttaaag
      121 caaatcatcg gacgaccagt tgtggtaaaa ttaaattctg gagtggatta tcgaggggtc
      181 ctggcttgcc tggatggcta catgaatata gccctggagc agacagaaga atatgtaaat
      241 ggacaactga agaataagta tggggatgca tttatccgag gaaacaatgt gttgtacatc
      301 agtacacaga agagacggat gtgaagacac caagagagca acgcttttca tagttggata
      361 tattttttta tgaatttttt ctaatttttg cttcttttgt gatacaattt gtcctctttt
      421 tataatagtt ggtgattttt cactgacatg tgagtaagat aaatgtatac aattgtggat
      481 ttaattgtga aatgttcttt cacttgtaag tttcagtcat tttcttttac ctcgttgtca
      541 gtgtacagaa tgctaaaata attaaaaaaa gacaaaataa aaaaaaaaaa aaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_017510. Homo sapiens gp25...[gi:22129785] Links  


LOCUS       HSGP25L2G                645 bp    mRNA    linear   PRI 07-AUG-2002
DEFINITION  Homo sapiens gp25L2 protein (HSGP25L2G), mRNA.
ACCESSION   NM_017510
VERSION     NM_017510.1  GI:22129785
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 645)
  AUTHORS   Strausberg,R.
  TITLE     Homo sapiens gp25L2 protein (HSGP25L2G), mRNA
  JOURNAL   Unpublished (2000)
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC001123.1.
FEATURES             Location/Qualifiers
     source          1..645
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.3"
                     /clone="MGC:2142 IMAGE:2967520"
                     /tissue_type="Skin, melanotic melanoma."
                     /clone_lib="NIH_MGC_20"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..645
                     /gene="HSGP25L2G"
                     /db_xref="LocusID:54732"
     CDS             1..645
                     /gene="HSGP25L2G"
                     /codon_start=1
                     /product="gp25L2 protein"
                     /protein_id="NP_059980.1"
                     /db_xref="GI:22129786"
                     /db_xref="LocusID:54732"
                     /translation="MRTLLLVLWLATRGSALYFHIGETEKKCFIEEIPDETMVIGNYR
                     TQLYDKQREEYQPATPGLGMFVEVKDPEDKVILARQYGSEGRFTFTSHTPGEHQICLH
                     SNSTKFSLFAGGMLRVHLDIQVGEHANDYAEIAAKDKLSELQLRVRQLVEQVEQIQKE
                     QNYQRWREERFRQTSESTNQRVLWWSILQTLILVAIGVWQMRHLKSFFEAKKLV"
     misc_feature    1..642
                     /gene="HSGP25L2G"
                     /note="Region: pfam01105, EMP24_GP25L, emp24/gp25L/p24
                     family. Members of this family are implicated in bringing
                     cargo forward from the ER and binding to coat proteins by
                     their cytoplasmic domains"
BASE COUNT      151 a    168 c    198 g    128 t
ORIGIN      
        1 atgcggaccc tcctgctggt gctgtggctg gcgacgcgcg gaagcgcgct ctactttcac
       61 atcggagaga cggagaagaa gtgctttatt gaggagatcc cggacgagac catggtcata
      121 ggaaactacc ggacgcagct gtatgacaag cagcgggagg agtaccagcc ggccaccccg
      181 gggcttggca tgtttgtgga ggtgaaggac ccagaggaca aggtcatcct ggcccggcag
      241 tatggctccg agggcaggtt cactttcact tcccataccc ctggtgagca ccagatctgt
      301 cttcactcca attccaccaa gttctccctc tttgctggag gcatgctgag agttcacctg
      361 gacatccagg taggtgaaca tgccaatgac tatgcagaaa ttgctgctaa agacaagttg
      421 agtgagttgc agctacgagt gcgacagctg gtggaacaag tggagcagat ccagaaagag
      481 cagaactacc agcggtggcg agaggagcgc ttccggcaga ccagtgagag caccaaccag
      541 cgggtgctgt ggtggtccat tctgcagacc ctcatcctcg tggccatcgg tgtctggcag
      601 atgcggcacc tcaagagctt ctttgaagcc aagaagcttg tgtag
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesProteinProteinTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  




&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: AL832340. Homo sapiens mRNA...[gi:21732902] Links  


LOCUS       HSM803648               5976 bp    mRNA    linear   PRI 10-JUL-2002
DEFINITION  Homo sapiens mRNA; cDNA DKFZp451M105 (from clone DKFZp451M105).
ACCESSION   AL832340
VERSION     AL832340.1  GI:21732902
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5976)
  AUTHORS   Koehrer,K., Beyer,A., Mewes,H.W., Weil,B. and Wiemann,S.
  TITLE     Direct Submission
  JOURNAL   Submitted (09-JUL-2002) 1, D-85764 Neuherberg, GERMANY
COMMENT     Clone from S. Wiemann, Molecular Genome Analysis, German Cancer
            Research Center (DKFZ); Email s.wiemann@dkfz-heidelberg.de;
            sequenced by BMFZ (Biomedical Research Center at the Charite,
            Berlin/Germany) within the cDNA sequencing consortium of the German
            Genome Project.
            This clone (DKFZp451M105) is available at the RZPD in Berlin.
            Please contact the RZPD: Ressourcenzentrum, Heubnerweg 6, 14059
            Berlin-Charlottenburg, GERMANY; Email: clone@rzpd.de Further
            information about the clone and the sequencing project is available
            at http://mips.gsf.de/proj/cDNA/.
FEATURES             Location/Qualifiers
     source          1..5976
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /clone="DKFZp451M105"
                     /tissue_type="cDNA-collection"
                     /clone_lib="451 (synonym: hlcc1). Vector pSport1; host
                     DH10B; sites NotI + SalI"
                     /dev_stage="adult"
     polyA_signal    5931..5936
     polyA_site      5945
BASE COUNT     1784 a   1210 c   1230 g   1752 t
ORIGIN      
        1 ttggggcaga ggaggcttgt aggaataggg gaagagttca taagcagagc tgaaacaaca
       61 ccaaacatgg aaatgttaca aggtggagaa attgtgctta ctgaaactct tctcagaaat
      121 attgctgttt gtggatgata gaaatcttca gagttgtcac ttaaggtaga ggtaggaggg
      181 taagaagcgt caaggactca ccgaattgtc cattccccct tttgttctgc tgtggaatgt
      241 tttgtgctgc tgtgttggaa aactttggac agacaattgt ccccgatttg ggatcactgg
      301 aaagtcagca tgattttcga accccggagt ttgaagaatt taatggaaaa cctgactccc
      361 tcttttttaa tgatggccag cgaagaattg actttgttct agtatatgag gatgaaagca
      421 gaaaagagac caataaaaag ggtacaaatg aaaaacaaag gaggaaaaga caagcatacg
      481 aatctaacct tatctgtcat ggcctgcagt tagaagcaac aagatcagta ttggatgaca
      541 agcttgtatt tgtaaaagta cacgcaccat gggaggtgtt atgtacgtat gctgagataa
      601 tgcacatcaa attgcctctg aaacccaatg atctgaaaaa ccggtcctca gcctttggta
      661 cactcaactg gtttaccaaa gtcctcagtg tagacgaaag catcatcaag ccagagcaag
      721 agtttttcac tgccccattt gagaagaacc ggatgaatga tttttacata gttgatagag
      781 atgctttctt caatccagcc accagaagcc gcattgttta cttcatcctc tctcgggtca
      841 agtaccaagt gataaacaat gttagcaagt ttgggatcaa cagacttgta aactctggga
      901 tctacaaggc agctttccca ctccatgatt gcaaattccg ccgtcagtca gaggatccca
      961 gctgccctaa tgaacggtac cttctgtaca gagaatgggc tcatcctcga agcatataca
     1021 aaaagcagcc cttggatctt atcaggaaat actatggaga gaagattgga atctactttg
     1081 cttggctggg ctattacact cagatgcttc tcctggccgc agttgtagga gtggcttgct
     1141 ttctctatgg atatcttaat caagataact gtacatggag caaagaagtt tgtcatcctg
     1201 atattggtgg caagatcata atgtgtcctc agtgtgatag gctttgtcca ttctggaaac
     1261 tcaatattac ttgcgagtcc tcaaagaaat tgtgcatctt cgacagtttt ggaaccctgg
     1321 tctttgcagt atttatggga gtatgggtta ccttgttttt ggagttttgg aagcgacgcc
     1381 aggcagaact tgagtatgaa tgggatactg ttgagttaca gcaggaagaa caagcccgac
     1441 cagaatacga agcacgatgt actcacgtag tgataaatga gattactcag gaagaagaac
     1501 gcattccctt tactgcctgg ggaaaatgta tacggataac cctctgtgcc agtgctgtct
     1561 ttttctggat cctattgatc atcgcttcag ttattgggat cattgtctat aggctctcgg
     1621 tgttcattgt attttctgca aaacttccca agaacattaa tggaacagac ccaatccaga
     1681 aatacctgac tccacagaca gccacgtcca tcacggcctc catcatcagc tttataatta
     1741 tcatgattct gaacaccata tatgaaaaag tggcaattat gattactaac ttcgaactcc
     1801 caaggaccca gactgattat gagaacagcc tcaccatgaa gatgttctta tctcagtttg
     1861 tcaactacta ctcttcatgc ttctacatag cattctttaa gggcaaattt gtaggctatc
     1921 caggagaccc agtttattgg ttgggaaaat acagaaatga agagtgtgac ccaggtggct
     1981 gtcttcttga actgacaact cagctgacaa taatcatggg aggaaaagca atctggaatc
     2041 acatacaaga agtattattg ccctggatca tgaatctaat tgggcgattt cacagagttt
     2101 ctggatcaga aaagataacc ccacgatggg aacaggacta ccatctgcag cctatgggca
     2161 aactgggatt attttatgaa tatcttgaaa tgattattca gtttgggttc gtcaccctat
     2221 ttgtggcctc ttttccactg gcccctctgt tggctctcgt gaacaatata ttggaaataa
     2281 gagtggacgc atggaaactg accacccagt ttagacgcct ggtaccagag aaagcccaag
     2341 acattggagc atggcagccc atcatgcaag gaatagcaat tctggctgtg gtgaccaatg
     2401 ccatgatcat agctttcacg tcggacatga tcccccgcct agtgtactac tggtccttct
     2461 ccgtccctcc ctacggggac cacacttcct acaccatgga agggtacatc aacaacactc
     2521 tctccatctt caaagtcgca gacttcaaaa acaaaagcaa gggaaacccg tactctgacc
     2581 tgggtaacca taccacatgc aggtatcgtg atttccgata cccacctgga cacccccagg
     2641 agtataaaca caacatctac tattggcatg tgattgcagc caagctggct tttatcattg
     2701 tcatggagca cgtcatctac tctgtgaaat ttttcatttc atatgcaatt cccgatgtat
     2761 caaaacgcac aaagagcaag atccagagag aaaaatacct aacccaaaag cttcttcatg
     2821 agaatcacct caaagatatg acgaaaaata tgggggtgat agctgagcgg atgatagaag
     2881 cagtagataa caatttacgg ccaaaatcag aataagagct ttatgttctg agaagcactt
     2941 taaggaattt agctttgtca aaatatatta ggaatcacta atgagaatgt gtaagttaaa
     3001 tcactttggc aaatatgagt ctcaactatt gccatttcct catgtattat ttttcagttt
     3061 cagctagcga tgcagaaact ggaaaatgta aaacttagat catgaagggc ataaaactta
     3121 tcacccggaa aacctcaatg ttaccttttt ctgataaatt ggaattttac agaaaaagtc
     3181 cctcagtgtg cttaaaaacc accccttcta aagtagaatg gattcttttt tttccgtttg
     3241 attattttca tttctgtcta ttctcaggcg catgatctcc tttattttta agccatgttt
     3301 catttcttca cttggctaga tctgttccag ggtcatcttt tccttacagt accatcatta
     3361 tagatttaat ttaatagctt tcatgtgatt aaaaatagct aactagactc aaggattcac
     3421 aatatttagg tgtattttca atacctccag aaaggaaacc tcagttaatc agaggaaata
     3481 gtttcagtct tcatttgagc atgtctttcc atctcaaaaa aatactctta gtaggttgga
     3541 gtgaagatag caaggttttg aagcatattt gtcctaatcc acagtgacac tttttatctt
     3601 ccaggagcac tcctaggagg ttccgtgcct aatcaatgtt gactgctttg cagatctcaa
     3661 gggaataaaa tgacaaaagc agggaaagtt acagattcaa acagcatttt aactcatgtt
     3721 gatctggata attaatcttt tctaaagatg tgtagtttct tggaaaacag tgatatcaca
     3781 tgattaaaat tacattttta tcaacataat tgtctggaaa agataagccc ctcaattttc
     3841 taccagttga cttttattca ttagatacag aaggtgcagt attacacatc accagctgcc
     3901 tttgtgaatg gctcactaca cagccattgg ggtacaactg tgtgcatggg cagaaacagc
     3961 aagtgccctc attgtggtca ttgggtgggg agtgcctttt gtcaaggagt ctgcaggaat
     4021 tggcttattt ctgtatgcca aagtgatcaa cacaccaaag tctctgccat aaagaatgtg
     4081 gcttccttgc atcctccatc ctgttactct gggcccagta atttgatgta actgtctgat
     4141 tgtactagag acaggagtat acccagctta ttcataatca agtaaagaga ctcagattag
     4201 atttgatttt ttagcctcct ctagagccaa tcaggcagtt aagagtaata aaggaaaagg
     4261 gtttggtcac aaaccctacc attatctgga gattacttcc tgctgcactc ctgtcttgcc
     4321 atgcacgtct tgccccctca cttttgctca gcctagcagt ctacttcact ttattgcctt
     4381 gtaagtgtca ggcctcctgg gcgctctgga aaagacaggg agccaggccc tctcacccct
     4441 actggtaaca ggtcattgct gggtgcacaa gagggaggtg atttgcatca tggtcatgct
     4501 gcatgggctt cactgggatg ctgttaaaca ccagaggagc caacctatca gaatcccagc
     4561 agcaaaggaa aactcagatt ttagaggctt tttacaataa agtagcgtaa ctctaggtca
     4621 tgattgattt caaatgcctg ccatgaatga tttgtaagta attatgtagg atccatcaaa
     4681 gcagtattgt aggcttttga attgtcccag tggatccggg accccatttc actgtctctc
     4741 ttgatcgtgt taatgatgca atcagagttc aagacaggcc ccatgaagtc tgactgcact
     4801 gggatggaga aatgaatttc ttcccactga aggaaactct ttctcattcg cagccaagac
     4861 gggagtgcca ctgttcctct cttcactcct gagatactgc ttctggaagc gggtgtcact
     4921 tcctctctag tacctcttct cttctctgaa gtgtgtgact atctcctagt gtttaaattt
     4981 ggcagttact cgccatgtat gtcagcatag aaaaggaaat gtttttacct tatctcctgt
     5041 atgtatgata gaacttaaaa gaaatgtgca tttgttttca tagccccagc agagaaaatc
     5101 ctcttcatag attaaatgtg ctgctgtgga caggagggaa aaaaaaaccc tctacatatt
     5161 gaaaggcacc aaatgtaata tctgacactg ttaagatgcc caaaagagca aagttgtagt
     5221 ggagatgcag ggtcatttcc ccatgccatc cacagtgttt gttagtgagt ccacggctga
     5281 cttgcagtga taaagaaaag catggagctg tgtctgcaga caatggtggc tgcatctgta
     5341 agtggcttca gaggcagcag ccctggggaa attgatgggt gtggcagtgg acctgtgaag
     5401 agggagaatc tagccttcag cctgtccagt gttaaccact agagaaactg agctttatat
     5461 ccttttttaa tgcctgtgaa ttttagcata ttgaaacatt agagcaaata ctcaggggat
     5521 ttttcattaa acatccctca gataatttag ctatatatca ttagaaaggg aaagctatca
     5581 tttttatttt aaaactaaac aaggccatct tataaactgt caccaaagtc ttcccttttt
     5641 tattgcatgt gtgccttgaa tttcataaaa cattaattca caatgggggt cagaatgtac
     5701 tcttgttgaa acacttcttg taccatttta tgttcatatt atgtttgaga gggtaaaaat
     5761 gtatgagcag cttaactgaa gtagaactat tcatgatgct tttcacacat tgtggcataa
     5821 gatgtaaagt ttgtaattaa tgttaatctc tgtgcatttt aatattcttt tataattatt
     5881 aatgttaatt tctgtgcatt ttaatattct tttataatta tgagcatttt aataaattca
     5941 tttttacaaa caaaaaagaa aaaaaaaaaa aaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  





&&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006022. Homo sapiens tran...[gi:5174728] Links  


LOCUS       TSC22                   1725 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens transforming growth factor beta-stimulated protein
            TSC-22 (TSC22), mRNA.
ACCESSION   NM_006022
VERSION     NM_006022.1  GI:5174728
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1725)
  AUTHORS   Dmitrenko,V.V., Garifulin,O.M., Kavsan,V.M. and Shostak,K.O.
  TITLE     Characterization of different mRNA types expressed in human brain
  JOURNAL   Cyt. Genet. (Russ.) 30, 41-47 (1996)
  REMARK    (sites)
REFERENCE   2  (bases 1 to 1725)
  AUTHORS   Jay,P., Ji,J.W., Marsollier,C., Taviaux,S., Berge-Lefranc,J.L. and
            Berta,P.
  TITLE     Cloning of the human homologue of the TGF beta-stimulated clone 22
            gene
  JOURNAL   Biochem. Biophys. Res. Commun. 222 (3), 821-826 (1996)
  MEDLINE   96244585
   PUBMED   8651929
REFERENCE   3  (bases 1 to 1725)
  AUTHORS   Ohta S, Shimekake Y and Nagata K.
  TITLE     Molecular cloning and characterization of a transcription factor
            for the C-type natriuretic peptide gene promoter
  JOURNAL   Eur. J. Biochem. 242 (3), 460-466 (1996)
  MEDLINE   97175009
   PUBMED   9022669
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AJ222700.1.
FEATURES             Location/Qualifiers
     source          1..1725
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14"
                     /clone="ICRFp507J1041"
                     /tissue_type="brain"
                     /clone_lib="S. Meier-Ewert's fetal brain cDNA library
                     no.507"
                     /dev_stage="fetus"
     gene            1..1725
                     /gene="TSC22"
                     /db_xref="LocusID:8848"
     CDS             192..626
                     /gene="TSC22"
                     /codon_start=1
                     /product="transforming growth factor beta-stimulated
                     protein TSC-22"
                     /protein_id="NP_006013.1"
                     /db_xref="GI:5174729"
                     /db_xref="LocusID:8848"
                     /translation="MKSQWCRPVAMDLGVYQLRHFSISFLSSLLGTENASVRLDNSSS
                     GASVVAIDNKIEQAMDLVKSHLMYAVREEVEVLKEQIKELIEKNSQLEQENNLLKTLA
                     SPEQLAQFQAQLQTGSPPATTQPQGTTQPPAQPASQGSGPTA"
     misc_feature    366..533
                     /gene="TSC22"
                     /note="Region: TSC-22/dip/bun family"
                     /db_xref="CDD:pfam01166"
     variation       623
                     /gene="TSC22"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2234260"
     variation       831
                     /gene="TSC22"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3194465"
     variation       961
                     /gene="TSC22"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1804589"
     variation       1055
                     /gene="TSC22"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1053948"
     variation       1314
                     /gene="TSC22"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1804590"
     variation       1411
                     /gene="TSC22"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1804591"
     variation       1492
                     /gene="TSC22"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12044"
     variation       1518
                     /gene="TSC22"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:15121"
     variation       1594
                     /gene="TSC22"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3209354"
     variation       1603
                     /gene="TSC22"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3180996"
     variation       1691
                     /gene="TSC22"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:11692"
     polyA_signal    1705..1710
                     /gene="TSC22"
     polyA_site      1725
                     /gene="TSC22"
                     /evidence=experimental
BASE COUNT      462 a    387 c    384 g    492 t
ORIGIN      
        1 cgcctcttca cggcactggg atccgcatct gcctgggatc atcaagccct agaagctggg
       61 tttctttaaa ttagggctgc cgttttctgt ttctccctgg gctgcggaaa gccagaagat
      121 tttatctagc ttatacaagg ctgctggtgt tccctctttt tttccacgag ggtgtttttg
      181 gctgcaattg catgaaatcc caatggtgta gaccagtggc gatggatcta ggagtttacc
      241 aactgagaca tttttcaatt tctttcttgt catccttgct ggggactgaa aacgcttctg
      301 tgagacttga taatagctcc tctggtgcaa gtgtggtagc tattgacaac aaaatcgagc
      361 aagctatgga tctagtgaaa agccatttga tgtatgcggt cagagaagaa gtggaggtcc
      421 tcaaagagca aatcaaagaa ctaatagaga aaaattccca gctggagcag gagaacaatc
      481 tgctgaagac actggccagt cctgagcagc ttgcccagtt tcaggcccag ctgcagactg
      541 gctccccccc tgccaccacc cagccacagg gcaccacaca gccccccgcc cagccagcat
      601 cgcagggctc aggaccaacc gcatagctgc ctatgccccc gcagaactgg ctgctgcgtg
      661 tgaactgaac agacggagaa gatgtgctag ggagaatctg cctccacagt cacccatttc
      721 attgctcgct gcgaaagaga cgtgagactg acatatgcca ttatctcttt tccagtatta
      781 aacactcata tgcttatggc ttggagaaat ttcttagttg ggtgaattaa aggttaatcc
      841 gagaattagc atggatatac cgggacctca tgcagcttgg cagatatctg agaaatggtt
      901 taattcatgc tcaggagctg tgtgcctttc catcccttcc ggctccctac ccctcacttc
      961 caagggttct ctctcctgct tgcgcttagt gtcctacatg gggttgtgaa gcgatggagc
     1021 tcctcactgg actcgcctct ctcctctcct ccccccagga ggaacttgaa aggagggtaa
     1081 aaagactaaa atgaggggga acagagttca ctgtacaaat ttgacaactg tcaccaaaat
     1141 tcataaaaaa caatagtact gtgcctcttt cttctcaaac aatggatgac acaaaactat
     1201 gagagtgaca aaatggtgac aggtagctgg gacctaggct atcttaccat gaaggttgtt
     1261 ttgcttattg tatatttgtg tatgtagtgt aactattttg tacaatagag gactgtaact
     1321 actatttagg ttgtacagat tgaaatttag ttgtttcatt ggctgtctga ggaggtgtgg
     1381 acttttatat atagatctac ataaaaactg ctacatgaca aaaaccacac ctaaacccct
     1441 tttaagaatt tggcacagtt actcactttg tgtaatctga aatctagctg ctgaatacgc
     1501 tgaagtaaat ccttgttcac tgaagtcttt caattgagct ggttgaatac tttgaaaaat
     1561 gctcagttct aactaatgaa atggatttcc cagtaggggt ttctgcatat cacctgtata
     1621 gtagttatat gcatatgttt ctgtgcatgt tctctacaca attgtaaggt gtcactgtat
     1681 ttaactgttg cacttgtcaa ctttcaataa agcatataaa tgttg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  

&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004265. Homo sapiens fatt...[gi:14141180] Links  


LOCUS       FADS2                   3149 bp    mRNA    linear   PRI 27-JUL-2001
DEFINITION  Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.
ACCESSION   NM_004265
VERSION     NM_004265.2  GI:14141180
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3149)
  AUTHORS   Stohr,H., Marquardt,A., Rivera,A., Cooper,P.R., Nowak,N.J.,
            Shows,T.B., Gerhard,D.S. and Weber,B.H.
  TITLE     A gene map of the Best's vitelliform macular dystrophy region in
            chromosome 11q12-q13.1
  JOURNAL   Genome Res. 8 (1), 48-56 (1998)
  MEDLINE   98112782
   PUBMED   9445487
REFERENCE   2  (bases 1 to 3149)
  AUTHORS   Cho,H.P., Nakamura,M.T. and Clarke,S.D.
  TITLE     Cloning, expression, and nutritional regulation of the mammalian
            Delta-6 desaturase
  JOURNAL   J. Biol. Chem. 274 (1), 471-477 (1999)
  MEDLINE   99085046
   PUBMED   9867867
REFERENCE   3  (bases 1 to 3149)
  AUTHORS   Marquardt,A., Stohr,H., White,K. and Weber,B.H.
  TITLE     cDNA cloning, genomic structure, and chromosomal localization of
            three members of the human fatty acid desaturase family
  JOURNAL   Genomics 66 (2), 175-183 (2000)
  MEDLINE   20318619
   PUBMED   10860662
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF084559.1.
            On May 17, 2001 this sequence version replaced gi:4758333.
            Summary: The protein encoded by this gene is a member of the fatty
            acid desaturase (FADS) gene family. Desaturase enzymes regulate
            unsaturation of fatty acids through the introduction of double
            bonds between defined carbons of the fatty acyl chain. FADS family
            members are considered fusion products composed of an N-terminal
            cytochrome b5-like domain and a C-terminal multiple
            membrane-spanning desaturase portion, both of which are
            characterized by conserved histidine motifs. This gene is clustered
            with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is
            thought to have arisen evolutionarily from gene duplication based
            on its similar exon/intron organization.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3149
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12-q13.1"
     gene            1..3149
                     /gene="FADS2"
                     /note="FADSD6; LLCDL2; D6D; TU13; DES6; SLL0262"
                     /db_xref="LocusID:9415"
                     /db_xref="MIM:606149"
     CDS             151..1485
                     /gene="FADS2"
                     /EC_number="1.14.99.25"
                     /note="delta-6 fatty acid desaturase; linoleoyl-CoA
                     desaturase (delta-6-desaturase)-like 2"
                     /codon_start=1
                     /product="fatty acid desaturase 2"
                     /protein_id="NP_004256.1"
                     /db_xref="GI:4758334"
                     /db_xref="LocusID:9415"
                     /db_xref="MIM:606149"
                     /translation="MGKGGNQGEGAAEREVSVPTFSWEEIQKHNLRTDRWLVIDRKVY
                     NITKWSIQHPGGQRVIGHYAGEDATDAFRAFHPDLEFVGKFLKPLLIGELAPEEPSQD
                     HGKNSKITEDFRALRKTAEDMNLFKTNHVFFLLLLAHIIALESIAWFTVFYFGNGWIP
                     TLITAFVLATSQAQAGWLQHDYGHLSVYRKPKWNHLVHKFVIGHLKGASANWWNHRHF
                     QHHAKPNIFHKDPDVNMLHVFVLGEWQPIEYGKKKLKYLPYNHQHEYFFLIGPPLLIP
                     MYFQYQIIMTMIVHKNWVDLAWAVSYYIRFFITYIPFYGILGALLFLNFIRFLESHWF
                     VWVTQMNHIVMEIDQEAYRDWFSSQLTATCNVEQSFFNDWFSGHLNFQIEHHLFPTMP
                     RHNLHKIAPLVKSLCAKHGIEYQEKPLLRALLDIIRSLKKSGKLWLDAYLHK"
     misc_feature    202..432
                     /gene="FADS2"
                     /note="Region: N-terminal cytochrome b5-like domain"
     misc_feature    211..444
                     /gene="FADS2"
                     /note="heme_1; Region: Heme-binding domain in cytochrome
                     b5 and oxidoreductases"
                     /db_xref="CDD:pfam00173"
     misc_feature    307..318
                     /gene="FADS2"
                     /note="Region: N-terminal cytochrome b5-like motif"
     misc_feature    688..702
                     /gene="FADS2"
                     /note="Region: C-terminal multiple membrane-spanning
                     desaturase motif"
     misc_feature    799..813
                     /gene="FADS2"
                     /note="Region: C-terminal multiple membrane-spanning
                     desaturase motif"
     misc_feature    1294..1308
                     /gene="FADS2"
                     /note="Region: C-terminal multiple membrane-spanning
                     desaturase motif"
     variation       999
                     /gene="FADS2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1141971"
     variation       1506
                     /gene="FADS2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:482548"
     variation       2964
                     /gene="FADS2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1060322"
     variation       2989
                     /gene="FADS2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1060325"
     variation       2997
                     /gene="FADS2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1060328"
     variation       3109
                     /gene="FADS2"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1060354"
     polyA_signal    3126..3131
                     /gene="FADS2"
BASE COUNT      634 a    949 c    913 g    653 t
ORIGIN      
        1 agggggcgcg gtgggaggag taggagaaga caaaagccga aagcgaagag ggcccgggct
       61 gcacacaccg gctgggaggc agccgtctgt gcagcgagca gccggcgcgg ggaggccgca
      121 gtgcacgggg cgtcacagtc ggcaggcagc atggggaagg gagggaacca gggcgagggg
      181 gccgccgagc gcgaggtgtc ggtgcccacc ttcagctggg aggagattca gaagcataac
      241 ctgcgcaccg acaggtggct ggtcattgac cgcaaggttt acaacatcac caaatggtcc
      301 atccagcacc cggggggcca gcgggtcatc gggcactacg ctggagaaga tgcaacggat
      361 gccttccgcg ccttccaccc tgacctggaa ttcgtgggca agttcttgaa acccctgctg
      421 attggtgaac tggccccgga ggagcccagc caggaccacg gcaagaactc aaagatcact
      481 gaggacttcc gggccctgag gaagacggct gaggacatga acctgttcaa gaccaaccac
      541 gtgttcttcc tcctcctcct ggcccacatc atcgccctgg agagcattgc atggttcact
      601 gtcttttact ttggcaatgg ctggattcct accctcatca cggcctttgt ccttgctacc
      661 tctcaggccc aagctggatg gctgcaacat gattatggcc acctgtctgt ctacagaaaa
      721 cccaagtgga accaccttgt ccacaaattc gtcattggcc acttaaaggg tgcctctgcc
      781 aactggtgga atcatcgcca cttccagcac cacgccaagc ctaacatctt ccacaaggat
      841 cccgatgtga acatgctgca cgtgtttgtt ctgggcgaat ggcagcccat cgagtacggc
      901 aagaagaagc tgaaatacct gccctacaat caccagcacg aatacttctt cctgattggg
      961 ccgccgctgc tcatccccat gtatttccag taccagatca tcatgaccat gatcgtccat
     1021 aagaactggg tggacctggc ctgggccgtc agctactaca tccggttctt catcacctac
     1081 atccctttct acggcatcct gggagccctc cttttcctca acttcatcag gttcctggag
     1141 agccactggt ttgtgtgggt cacacagatg aatcacatcg tcatggagat tgaccaggag
     1201 gcctaccgtg actggttcag tagccagctg acagccacct gcaacgtgga gcagtccttc
     1261 ttcaacgact ggttcagtgg acaccttaac ttccagattg agcaccacct cttccccacc
     1321 atgccccggc acaacttaca caagatcgcc ccgctggtga agtctctatg tgccaagcat
     1381 ggcattgaat accaggagaa gccgctactg agggccctgc tggacatcat caggtccctg
     1441 aagaagtctg ggaagctgtg gctggacgcc taccttcaca aatgaagcca cagcccccgg
     1501 gacaccgtgg ggaaggggtg caggtggggt gatggccaga ggaatgatgg gcttttgttc
     1561 tgaggggtgt ccgagaggct ggtgtatgca ctgctcacgg accccatgtt ggatctttct
     1621 ccctttctcc tctccttttt ctcttcacat ctcccccata gcaccctgcc ctcatgggac
     1681 ctgccctccc tcagccgtca gccatcagcc atggccctcc cagtgcctcc tagccccttc
     1741 ttccaaggag cagagaggtg gccaccgggg gtggctctgt cctacctcca ctctctgccc
     1801 ctaaagatgg gaggagacca gcggtccatg ggtctggcct gtgagtctcc ccttgcagcc
     1861 tggtcactag gcatcacccc cgctttggtt cttcagatgc tcttggggtt cataggggca
     1921 ggtcctagtc gggcagggcc cctgaccctc ccggcctggc ttcactctcc ctgacggctg
     1981 ccattggtcc accctttcat agagaggcct gctttgttac aaagctcggg tctccctcct
     2041 gcagctcggt taagtacccg aggcctctct taagatgtcc agggccccag gcccgcgggc
     2101 acagccagcc caaaccttgg gccctggaag agtcctccac cccatcacta gagtgctctg
     2161 accctgggct ttcacgggcc ccattccacc gcctccccaa cttgagcctg tgaccttggg
     2221 accaaagggg gagtccctcg tctcttgtga ctcagcagag gcagtggcca cgttcaggga
     2281 ggggccggct ggcctggagg ctcagcccac cctccagctt ttcctcaggg tgtcctgagg
     2341 tccaagattc tggagcaatc tgacccttct ccaaaggctc tgttatcagc tgggcagtgc
     2401 cagccaatcc ctggccattt ggccccaggg gacgtgggcc ctgcaggctg caggagggca
     2461 ctggagctgg gaggtctcgt cccagccctc cccatctcgg ggctgctgtg tggacggcgc
     2521 tgcctcaggc actctcctgt ctgaacctgc ccttactgtg tttaacctgt tgctccagga
     2581 tgcattctga taggaggggg cggcagggct gggccttgtg acaatctgcc tttcaccaca
     2641 tggccttgcc tcggtggccc tgactgtcag ggagggccag ggaggcagag cgggagggag
     2701 tctcaggagg aggctgccct gaggggctgg ggagggggta cctcatgagg accagggtgg
     2761 agctgagaag aggaggaggt gggggctgga ggtgctggta gctgagggga cgggcaagtg
     2821 agaggggagg gagggaagtc ctgggaggat cctgagctgc tgttgcagtc taacccacta
     2881 atcagttctt agattcaggg gaagggcagg caccaacaac tcagaatggg ggctttcggg
     2941 gagggcgcct agtcccccca gctctaagca gccaggaggg acctgcatct aagcatctgg
     3001 gttgccatgg caatggcatg ccccccagct actgtatgcc cccgaccccc gcagaggcag
     3061 aatgaaccca tagggagctg atcgtaatgt ttatcatgtt acttccccac ccctacattt
     3121 tttgaaataa aataaggaat tttattctc
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  




&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001336. Homo sapiens cath...[gi:22538441] Links  


LOCUS       CTSZ                    1501 bp    mRNA    linear   PRI 29-AUG-2002
DEFINITION  Homo sapiens cathepsin Z (CTSZ), mRNA.
ACCESSION   NM_001336
VERSION     NM_001336.2  GI:22538441
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1501)
  AUTHORS   Santamaria,I., Velasco,G., Pendas,A.M., Fueyo,A. and Lopez-Otin,C.
  TITLE     Cathepsin Z, a novel human cysteine proteinase with a short
            propeptide domain and a unique chromosomal location
  JOURNAL   J. Biol. Chem. 273 (27), 16816-16823 (1998)
  MEDLINE   98307916
   PUBMED   9642240
REFERENCE   2  (bases 1 to 1501)
  AUTHORS   Nagler,D.K. and Menard,R.
  TITLE     Human cathepsin X: a novel cysteine protease of the papain family
            with a very short proregion and unique insertions
  JOURNAL   FEBS Lett. 434 (1-2), 135-139 (1998)
  MEDLINE   98408845
   PUBMED   9738465
REFERENCE   3  (bases 1 to 1501)
  AUTHORS   Pungercar,J. and Ivanovski,G.
  TITLE     Identification and molecular cloning of cathepsin P, a novel human
            putative cysteine protease of the papain family
  JOURNAL   Pflugers Arch. 439 (3 Suppl), R116-R118 (2000)
  MEDLINE   20116863
   PUBMED   10653162
REFERENCE   4  (bases 1 to 1501)
  AUTHORS   Pungercar,J., Viyjak,A., Ivanovski,G. and Krizaj,I.
  TITLE     Tissue expression and immunolocalization of a novel human cathepsin
            P
  JOURNAL   Pflugers Arch. 439 (3 Suppl), R119-R121 (2000)
  MEDLINE   20116864
   PUBMED   10653163
REFERENCE   5  (bases 1 to 1501)
  AUTHORS   Guncar,G., Klemencic,I., Turk,B., Turk,V.,
            Karaoglanovic-Carmona,A., Juliano,L. and Turk,D.
  TITLE     Crystal structure of cathepsin X: a flip-flop of the ring of His23
            allows carboxy-monopeptidase and carboxy-dipeptidase activity of
            the protease
  JOURNAL   Structure Fold. Des. 8 (3), 305-313 (2000)
  MEDLINE   20211865
   PUBMED   10745011
REFERENCE   6  (bases 1 to 1501)
  AUTHORS   Deussing,J., von Olshausen,I. and Peters,C.
  TITLE     Murine and human cathepsin Z: cDNA-cloning, characterization of the
            genes and chromosomal localization
  JOURNAL   Biochim. Biophys. Acta 1491 (1-3), 93-106 (2000)
  MEDLINE   20225452
   PUBMED   10760573
REFERENCE   7  (bases 1 to 1501)
  AUTHORS   Bonthron,D.T., Hayward,B.E., Moran,V. and Strain,L.
  TITLE     Characterization of TH1 and CTSZ, two non-imprinted genes
            downstream of GNAS1 in chromosome 20q13
  JOURNAL   Hum. Genet. 107 (2), 165-175 (2000)
  MEDLINE   20483332
   PUBMED   11030415
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF136273.1.
            On Aug 29, 2002 this sequence version replaced gi:4503158.
            Summary: The protein encoded by this gene is a lysosomal cysteine
            proteinase and member of the peptidase C1 family. It exhibits both
            carboxy-monopeptidase and carboxy-dipeptidase activities. The
            encoded protein has also been known as cathepsin X and cathepsin P.
            This gene is expressed ubiquitously in cancer cell lines and
            primary tumors and, like other members of this family, may be
            involved in tumorigenesis. At least two transcript variants of this
            gene have been found, but the full-length nature of only one of
            them has been determined.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1501
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13"
     gene            1..1501
                     /gene="CTSZ"
                     /note="CTSX"
                     /db_xref="LocusID:1522"
                     /db_xref="MIM:603169"
     CDS             126..1037
                     /gene="CTSZ"
                     /note="cathepsin X precursor; preprocathepsin P; cathepsin
                     Z precursor"
                     /codon_start=1
                     /product="cathepsin Z preproprotein"
                     /protein_id="NP_001327.2"
                     /db_xref="GI:22538442"
                     /db_xref="LocusID:1522"
                     /db_xref="MIM:603169"
                     /translation="MARRGPGWRPLLLLVLLAGAAQGGLYFRRGQTCYRPLRGDGLAP
                     LGRSTYPRPHEYLSPADLPKSWDWRNVDGVNYASITRNQHIPQYCGSCWAHASTSAMA
                     DRINIKRKGAWPSTLLSVQNVIDCGNAGSCEGGNDLSVWDYAHQHGIPDETCNNYQAK
                     DQECDKFNQCGTCNEFKECHAIRNYTLWRVGDYGSLSGREKMMAEIYANGPISCGIMA
                     TERLANYTGGIYAEYQDTTYINHVVSVAGWGISDGTEYWIVRNSWGEPWGERGWLRIV
                     TSTYKDGKGARYNLAIEEHCTFGDPIV"
     sig_peptide     126..194
                     /gene="CTSZ"
     mat_peptide     309..1034
                     /gene="CTSZ"
                     /product="cathepsin Z"
     misc_feature    309..971
                     /gene="CTSZ"
                     /note="Region: smart00645, Pept_C1, Papain family cysteine
                     protease"
     misc_feature    309..968
                     /gene="CTSZ"
                     /note="Region: pfam00112, Peptidase_C1, Papain family
                     cysteine protease"
     misc_feature    195..1034
                     /gene="CTSZ"
                     /note="cathepsin Z proprotein"
     polyA_signal    1476..1481
                     /gene="CTSZ"
     polyA_site      1501
                     /gene="CTSZ"
                     /evidence=experimental
BASE COUNT      345 a    382 c    494 g    280 t
ORIGIN      
        1 ggggtcggcc gggtgctagg ccggggccga ggccgaggcc ggggcgggat ccagagcggg
       61 agccggcgcg ggatctggga ctcggagcgg gatccggagc gggacccagg agccggcgcg
      121 gggccatggc gaggcgcggg ccagggtggc ggccgcttct gctgctcgtg ctgctggcgg
      181 gcgcggcgca gggcggcctc tacttccgcc ggggacagac ctgctaccgg cctctgcggg
      241 gggacgggct ggctccgctg gggcgcagca catacccccg gcctcatgag tacctgtccc
      301 cagcggatct gcccaagagc tgggactggc gcaatgtgga tggtgtcaac tatgccagca
      361 tcacccggaa ccagcacatc ccccaatact gcggctcctg ctgggcccac gccagcacca
      421 gcgctatggc ggatcggatc aacatcaaga ggaagggagc gtggccctcc accctcctgt
      481 ccgtgcagaa cgtcatcgac tgcggtaacg ctggctcctg tgaagggggt aatgacctgt
      541 ccgtgtggga ctacgcccac cagcacggca tccctgacga gacctgcaac aactaccagg
      601 ccaaggacca ggagtgtgac aagtttaacc aatgtgggac atgcaatgaa ttcaaagagt
      661 gccacgccat ccggaactac accctctgga gggtgggaga ctacggctcc ctctctggga
      721 gggagaagat gatggcagaa atctacgcaa atggtcccat cagctgtgga ataatggcaa
      781 cagaaagact ggctaactac accggaggca tctatgccga ataccaggac accacatata
      841 taaaccatgt cgtttccgtg gctgggtggg gcatcagtga tgggactgag tactggattg
      901 tccggaattc atggggtgaa ccatggggcg agagaggctg gctgaggatc gtgaccagca
      961 cctataagga tgggaagggc gccagataca accttgccat cgaggagcac tgtacatttg
     1021 gggaccccat cgtttaaggc catgtcacta gaagcgcagt ttaagaaaag gcatggtgac
     1081 ccatgaccag aggggatcct atggttatgt gtgccaggct ggctggcagg aactggggtg
     1141 gctatcaata ttggatggcg aggacagcgt ggtactggct gcgagtgttc ctgagagttg
     1201 aaagtgggat gacttatgac acttgcacag catggctctg cctcacaatg atgcagtcag
     1261 ccacctggtg aagaagtgac ctgcaacaca ggaaacgatg ggacctcagt cttcttcagc
     1321 agaggacttg atattttgta tttggcaact gtgggcaata atatggcatt taagaggtga
     1381 aagagttcag acttatcacc attcttatgt cactttagaa tcaagggtgg gggagggagg
     1441 gagggagttg gcagtttcaa atcgcccaag tgatgaataa agtatctggc tctgcacgag
     1501 a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedTaxonomyTaxonomyUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002227. Homo sapiens Janu...[gi:4504802] Links  


LOCUS       JAK1                    3541 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens Janus kinase 1 (a protein tyrosine kinase) (JAK1),
            mRNA.
ACCESSION   NM_002227
VERSION     NM_002227.1  GI:4504802
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3541)
  AUTHORS   Wilks,A.F., Harpur,A.G., Kurban,R.R., Ralph,S.J., Zurcher,G. and
            Ziemiecki,A.
  TITLE     Two novel protein-tyrosine kinases, each with a second
            phosphotransferase-related catalytic domain, define a new class of
            protein kinase
  JOURNAL   Mol. Cell. Biol. 11 (4), 2057-2065 (1991)
  MEDLINE   91172194
   PUBMED   1848670
REFERENCE   2  (bases 1 to 3541)
  AUTHORS   Howard,O.M., Dean,M., Young,H., Ramsburg,M., Turpin,J.A.,
            Michiel,D.F., Kelvin,D.J., Lee,L. and Farrar,W.L.
  TITLE     Characterization of a class 3 tyrosine kinase
  JOURNAL   Oncogene 7 (5), 895-900 (1992)
  MEDLINE   92237015
   PUBMED   1373877
REFERENCE   3  (bases 1 to 3541)
  AUTHORS   Pritchard,M.A., Baker,E., Callen,D.F., Sutherland,G.R. and
            Wilks,A.F.
  TITLE     Two members of the JAK family of protein tyrosine kinases map to
            chromosomes 1p31.3 and 9p24
  JOURNAL   Mamm. Genome 3 (1), 36-38 (1992)
  MEDLINE   92257030
   PUBMED   1581631
REFERENCE   4  (bases 1 to 3541)
  AUTHORS   Muller,M., Briscoe,J., Laxton,C., Guschin,D., Ziemiecki,A.,
            Silvennoinen,O., Harpur,A.G., Barbieri,G., Witthuhn,B.A.,
            Schindler,C. et al.
  TITLE     The protein tyrosine kinase JAK1 complements defects in
            interferon-alpha/beta and -gamma signal transduction
  JOURNAL   Nature 366 (6451), 129-135 (1993)
  MEDLINE   94050138
   PUBMED   8232552
REFERENCE   5  (bases 1 to 3541)
  AUTHORS   Modi,W.S., Farrar,W.L. and Howard,O.M.
  TITLE     Confirmed assignment of a novel human tyrosine kinase gene (JAK1A)
            to 1p32.3-->p31.3 by nonisotopic in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 69 (3-4), 232-234 (1995)
  MEDLINE   95212164
   PUBMED   7698020
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M64174.1.
            Summary: Janus kinase 1 (JAK1), is a member of a new class of
            protein-tyrosine kinases (PTK) characterized by the presence of a
            second phosphotransferase-related domain immediately N-terminal to
            the PTK domain. The second phosphotransferase domain bears all the
            hallmarks of a protein kinase, although its structure differs
            significantly from that of the PTK and threonine/serine kinase
            family members. JAK1 is a large, widely expressed
            membrane-associated phosphoprotein.  JAK1 is involved in the
            interferon-alpha/beta and -gamma signal transduction pathways. The
            reciprocal interdependence between JAK1 and TYK2 activities in the
            interferon-alpha pathway, and between JAK1 and JAK2 in the
            interferon-gamma pathway, may reflect a requirement for these
            kinases in the correct assembly of interferon receptor complexes.
            These kinases couple cytokine ligand binding to tyrosine
            phosphorylation of various known signaling proteins and of a unique
            family of transcription factors termed the signal transducers and
            activators of transcription, or STATs.
FEATURES             Location/Qualifiers
     source          1..3541
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.3-p31.3"
     gene            1..3541
                     /gene="JAK1"
                     /note="JAK1A"
                     /db_xref="LocusID:3716"
                     /db_xref="MIM:147795"
     CDS             76..3504
                     /gene="JAK1"
                     /EC_number="2.7.1.112"
                     /codon_start=1
                     /product="janus kinase 1"
                     /protein_id="NP_002218.1"
                     /db_xref="GI:4504803"
                     /db_xref="LocusID:3716"
                     /db_xref="MIM:147795"
                     /translation="MAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYT
                     AEELCIRAAQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFT
                     NWHGTNDNEQSVWRHSPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAP
                     IRDPKTEQDGHDIENECLGMAVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIR
                     QRNLLTRMRINNVFKDFLKEFNNKTICDSSVSTHDLKVKYLATLETLTKHYGAEIFET
                     SMLLISSENEMNWFHSNDGGNVLYYEVMVTGNLGIQWRHKPNVVSVEKEKNKLKRKKL
                     ENKDKKDEEKNKIREEWNNFSFFPEITHIVIKESVVSINKQDNKKMELKLSSHEEALS
                     FVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEYAINKLRQEGSEEGM
                     YVLRWSCTDFDNILMTVTCFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGSDRSFPSLG
                     DLMSHLKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFDRI
                     LKKDLVQGEHLGRGTRTHIYSGTLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFF
                     EAASMMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKV
                     AKQLASALSYLEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQEC
                     IERIPWIAPECVEDSKNLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRC
                     RPVTPSCKELADLMTRCMNYDPNQRPFFRAIMRDINKLEEQNPDIVSRKKNQPTEVDP
                     THFEKRFLKRIRDLGEGHFGKVELCRYDPEDNTGEQVAVKSLKPESGGNHIADLKKEI
                     EILRNLYHENIVKYKGICTEDGGNGIKLIMEFLPSGSLKEYLPKNKNKINLKQQLKYA
                     VQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGLTKAIETDKEYYTVKDDRD
                     SPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALFLKMIGPTHGQMT
                     VTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRTSFQNLIEGFEALLK"
     misc_feature    133..897
                     /gene="JAK1"
                     /note="Region: smart00295, B41, Band 4.1 homologues; Also
                     known as ezrin/radixin/moesin (ERM) protein domains.
                     Present in myosins, ezrin, radixin, moesin, protein
                     tyrosine phosphatases. Plasma membrane-binding domain.
                     These proteins play structural and regulatory roles in the
                     assembly and stabilization of specialized plasmamembrane
                     domains. Some PDZ domain containing proteins bind one or
                     more of this family. Now includes JAKs"
     misc_feature    1348..1635
                     /gene="JAK1"
                     /note="Region: smart00252, SH2, Src homology 2 domains;
                     Src homology 2 domains bind phosphotyrosine-containing
                     polypeptides via 2 surface pockets. Specificity is
                     provided via interaction with residues that are distinct
                     from the phosphotyrosine. Only a single occurrence of a
                     SH2 domain has been found in S. cerevisiae"
     misc_feature    1786..2574
                     /gene="JAK1"
                     /note="Region: pfam00069, pkinase, Protein kinase domain"
     misc_feature    1786..2574
                     /gene="JAK1"
                     /note="Region: smart00219, TyrKc, Tyrosine kinase,
                     catalytic domain; Phosphotransferases. Tyrosine-specific
                     kinase subfamily"
     misc_feature    1795..2571
                     /gene="JAK1"
                     /note="Region: smart00220, S_TKc, erine/Threonine protein
                     kinases, catalytic domain; Phosphotransferases. Serine or
                     threonine-specific kinase subfamily"
     misc_feature    2665..3486
                     /gene="JAK1"
                     /note="Region: smart00219, TyrKc, Tyrosine kinase,
                     catalytic domain; Phosphotransferases. Tyrosine-specific
                     kinase subfamily"
     misc_feature    2665..3480
                     /gene="JAK1"
                     /note="Region: pfam00069, pkinase, Protein kinase domain"
     misc_feature    2665..3480
                     /gene="JAK1"
                     /note="Region: smart00220, S_TKc, erine/Threonine protein
                     kinases, catalytic domain; Phosphotransferases. Serine or
                     threonine-specific kinase subfamily"
     variation       1629
                     /gene="JAK1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230586"
     variation       2088
                     /gene="JAK1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230587"
     variation       2088
                     /gene="JAK1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3737138"
     variation       2238
                     /gene="JAK1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230588"
     variation       2238
                     /gene="JAK1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3818749"
BASE COUNT     1054 a    806 c    876 g    805 t
ORIGIN      
        1 tccagtttgc ttcttggaga acactggaca gctgaataaa tgcagtatct aaatataaaa
       61 gaggactgca atgccatggc tttctgtgct aaaatgagga gctccaagaa gactgaggtg
      121 aacctggagg cccctgagcc aggggtggaa gtgatcttct atctgtcgga cagggagccc
      181 ctccggctgg gcagtggaga gtacacagca gaggaactgt gcatcagggc tgcacaggca
      241 tgccgtatct ctcctctttg tcacaacctc tttgccctgt atgacgagaa caccaagctc
      301 tggtatgctc caaatcgcac catcaccgtt gatgacaaga tgtccctccg gctccactac
      361 cggatgaggt tctatttcac caattggcat ggaaccaacg acaatgagca gtcagtgtgg
      421 cgtcattctc caaagaagca gaaaaatggc tacgagaaaa aaaagattcc agatgcaacc
      481 cctctccttg atgccagctc actggagtat ctgtttgctc agggacagta tgatttggtg
      541 aaatgcctgg ctcctattcg agaccccaag accgagcagg atggacatga tattgagaac
      601 gagtgtctag ggatggctgt cctggccatc tcacactatg ccatgatgaa gaagatgcag
      661 ttgccagaac tgcccaagga catcagctac aagcgatata ttccagaaac attgaataag
      721 tccatcagac agaggaacct tctcaccagg atgcggataa ataatgtttt caaggatttc
      781 ctaaaggaat ttaacaacaa gaccatttgt gacagcagcg tgtccacgca tgacctgaag
      841 gtgaaatact tggctacctt ggaaactttg acaaaacatt acggtgctga aatatttgag
      901 acttccatgt tactgatttc atcagaaaat gagatgaatt ggtttcattc gaatgacggt
      961 ggaaacgttc tctactacga agtgatggtg actgggaatc ttggaatcca gtggaggcat
     1021 aaaccaaatg ttgtttctgt tgaaaaggaa aaaaataaac tgaagcggaa aaaactggaa
     1081 aataaagaca agaaggatga ggagaaaaac aagatccggg aagagtggaa caatttttca
     1141 ttcttccctg aaatcactca cattgtaata aaggagtctg tggtcagcat taacaagcag
     1201 gacaacaaga aaatggaact gaagctctct tcccacgagg aggccttgtc ctttgtgtcc
     1261 ctggtagatg gctacttccg gctcacagca gatgcccatc attacctctg caccgacgtg
     1321 gcccccccgt tgatcgtcca caacatacag aatggctgtc atggtccaat ctgtacagaa
     1381 tacgccatca ataaattgcg gcaagaagga agcgaggagg ggatgtacgt gctgaggtgg
     1441 agctgcaccg actttgacaa catcctcatg accgtcacct gctttgagaa gtctgagcag
     1501 gtgcagggtg cccagaagca gttcaagaac tttcagatcg aggtgcagaa gggccgctac
     1561 agtctgcacg gttcggaccg cagcttcccc agcttgggag acctcatgag ccacctcaag
     1621 aagcagatcc tgcgcacgga taacatcagc ttcatgctaa aacgctgctg ccagcccaag
     1681 ccccgagaaa tctccaacct gctggtggct actaagaaag cccaggagtg gcagcccgtc
     1741 taccccatga gccagctgag tttcgatcgg atcctcaaga aggatctggt gcagggcgag
     1801 caccttggga gaggcacgag aacacacatc tattctggga ccctgatgga ttacaaggat
     1861 gacgaaggaa cttctgaaga gaagaagata aaagtgatcc tcaaagtctt agaccccagc
     1921 cacagggata tttccctggc cttcttcgag gcagccagca tgatgagaca ggtctcccac
     1981 aaacacatcg tgtacctcta tggcgtctgt gtccgcgacg tggagaatat catggtggaa
     2041 gagtttgtgg aagggggtcc tctggatctc ttcatgcacc ggaaaagtga tgtccttacc
     2101 acaccatgga aattcaaagt tgccaaacag ctggccagtg ccctgagcta cttggaggat
     2161 aaagacctgg tccatggaaa tgtgtgtact aaaaacctcc tcctggcccg tgagggaatc
     2221 gacagtgagt gtggcccatt catcaagctc agtgaccccg gcatccccat tacggtgctg
     2281 tctaggcaag aatgcattga acgaatccca tggattgctc ctgagtgtgt tgaggactcc
     2341 aagaacctga gtgtggctgc tgacaagtgg agctttggaa ccacgctctg ggaaatctgc
     2401 tacaatggcg agatcccctt gaaagacaag acgctgattg agaaagagag attctatgaa
     2461 agccggtgca ggccagtgac accatcatgt aaggagctgg ctgacctcat gacccgctgc
     2521 atgaactatg accccaatca gaggcctttc ttccgagcca tcatgagaga cattaataag
     2581 cttgaagagc agaatccaga tattgtttcc agaaaaaaaa accagccaac tgaagtggac
     2641 cccacacatt ttgagaagcg cttcctaaag aggatccgtg acttgggaga gggccacttt
     2701 gggaaggttg agctctgcag gtatgacccc gaagacaata caggggagca ggtggctgtt
     2761 aaatctctga agcctgagag tggaggtaac cacatagctg atctgaaaaa ggaaatcgag
     2821 atcttaagga acctctatca tgagaacatt gtgaagtaca aaggaatctg cacagaagac
     2881 ggaggaaatg gtattaagct catcatggaa tttctgcctt cgggaagcct taaggaatat
     2941 cttccaaaga ataagaacaa aataaacctc aaacagcagc taaaatatgc cgttcagatt
     3001 tgtaagggga tggactattt gggttctcgg caatacgttc accgggactt ggcagcaaga
     3061 aatgtccttg ttgagagtga acaccaagtg aaaattggag acttcggttt aaccaaagca
     3121 attgaaaccg ataaggagta ttacaccgtc aaggatgacc gggacagccc tgtgttttgg
     3181 tatgctccag aatgtttaat gcaatctaaa ttttatattg cctctgacgt ctggtctttt
     3241 ggagtcactc tgcatgagct gctgacttac tgtgattcag attctagtcc catggctttg
     3301 ttcctgaaaa tgataggccc aacccatggc cagatgacag tcacaagact tgtgaatacg
     3361 ttaaaagaag gaaaacgcct gccgtgccca cctaactgtc cagatgaggt ttatcagctt
     3421 atgagaaaat gctgggaatt ccaaccatcc aatcggacaa gctttcagaa ccttattgaa
     3481 ggatttgaag cacttttaaa ataagaagca tgaataacat ttaaattcca cagattatca
     3541 a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  




&&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_032849. Homo sapiens hypo...[gi:21361885] Links  


LOCUS       FLJ14834                2342 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens hypothetical protein FLJ14834 (FLJ14834), mRNA.
ACCESSION   NM_032849
VERSION     NM_032849.2  GI:21361885
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2342)
  AUTHORS   Isogai,T., Otsuki,T. and Sugiyama,T.
  TITLE     Homo sapiens hypothetical protein FLJ14834 (FLJ14834), mRNA
  JOURNAL   Unpublished (2001)
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AK055635.1.
            On Jun 10, 2002 this sequence version replaced gi:14249571.
FEATURES             Location/Qualifiers
     source          1..2342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.3"
                     /clone="HSYRA2001420"
                     /cell_type="synoviocytes from rtheumatioid arthritis
                     (HS-RA)"
                     /clone_lib="HSYRA2"
                     /note="cloning vector: pME18SFL3~primary culture,
                     synoviocytes from rtheumatioid arthritis"
     gene            1..2342
                     /gene="FLJ14834"
                     /db_xref="LocusID:84935"
     CDS             326..1237
                     /gene="FLJ14834"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="hypothetical protein FLJ14834"
                     /protein_id="NP_116238.2"
                     /db_xref="GI:21361886"
                     /db_xref="LocusID:84935"
                     /translation="MAGAACEPVARPSLTSISSGELRSLWTCDCELALLPLAQLLRLQ
                     PGAFQLSGDQLVVAGPGEPAAARGGFNVFGDGLVRLDGQLYRLSSYIKRYVELTNYCD
                     YKDYRETILSKPMLFFINVQTKKDTSKERTYAFLVNTRHPKIRRQIEQGMDMVISSVI
                     GESYRLQFDFQEAVKNFFPPGNEVVNGENLSFAYEFKADALFDFFYWFGLSNSVVKVN
                     GKVLNLSSTSPEKKETIKLFLEKMSEPLIRRSSFSDRKFSVTSRGSIDDVFNCNLSPR
                     SSLTEPLLAELPFPSVLESEETPNQFI"
     variation       complement(2059)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12894"
     variation       complement(2285)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:10742"
BASE COUNT      575 a    570 c    632 g    565 t
ORIGIN      
        1 ctggggtcgt ggccgtgggc cggcaggggc gaggcgggcg tccggagggc ggataaaagg
       61 ggccgcgctg cgccggggcc gctttctccg cgcggtgcct gcagggctcc cagcgagtgg
      121 cagcttggga ggggccgccc gggcggtcag actggcacct gagcggccac cgcgtcccgg
      181 ccaggcgggc agaccgaccc cctcctcacc tcgcgcgcgg ctgacgcagg cagggcgccc
      241 ggcccctcct ggggaccatc aggtgccggc tgggggctgt aggcaccgga cggaagcagg
      301 cggtgtgagg accgacgacg cgggcatggc gggggcggcc tgcgagccgg tggccaggcc
      361 gagcctgacc tccatctcgt ctggggagct tcgcagcctg tggacctgcg actgcgagct
      421 ggccctgctg ccgctggctc agctgctgcg cctgcagccc ggtgccttcc agctgagcgg
      481 cgaccagctc gtggtggccg ggcccgggga gccggcggcg gcgcgggggg gcttcaacgt
      541 cttcggtgac ggcctcgtgc gcctcgacgg gcagctctac cgcctcagca gctacatcaa
      601 gaggtatgtg gaactgacca actactgtga ttataaagac tacagggaaa ctatattgag
      661 caaaccaatg ttgttcttta ttaatgtaca gaccaaaaaa gacacctcaa aagaaaggac
      721 gtacgcgttt cttgtaaaca cgaggcaccc caagataaga agacagatag agcaagggat
      781 ggacatggtc atctcctcag tgattggaga aagttaccgg cttcagtttg attttcaaga
      841 ggcagtgaag aatttcttcc ccccaggaaa tgaagtggtt aatggagaaa atttaagctt
      901 tgcatatgaa ttcaaagctg atgcattatt tgatttcttc tattggttcg ggctcagtaa
      961 ttccgttgta aaagtaaatg gaaaagttct gaatttgtca agtacaagtc cagaaaagaa
     1021 ggagacgatt aagttatttc tggaaaaaat gagtgagcct ttaatccgaa ggagcagttt
     1081 ctctgaccga aagttcagtg taacttccag aggttcaata gatgatgttt ttaactgcaa
     1141 tctgtcaccc agatcatctc tgacagagcc tcttttggca gaattaccat ttccaagtgt
     1201 tctggaatct gaagagacac ccaaccaatt tatctgattg aactgaacat tgtagcagtt
     1261 gctcccgcac tccaggcctg tgctagacta taggctgggg ggagggtagg aggtgggagg
     1321 cagatacttc cacctgcgtg tcaatctccg gctcctccat ggcttctatg gaggactcct
     1381 ctcttctgct tctgtggatg tgatgccctg gcaggcccag ggcagctgat tcccctaaaa
     1441 cttatgatta ccaggatgga aaggccttgg tcccatggca ctgggtgggg ctgggggata
     1501 ttctctactt tgaacacttc tccaaagagg cagaagggcc acagagttct gccaccctga
     1561 acatttttct cagttccctg ggagtttttg tggcagcctt tgtgggagtg gtctgactgg
     1621 ctgttgacct agcatgcttc ataaatcagg gtttggccct ctgcttggag catccaaccc
     1681 cttgaactca aacctgtcga gcaaggggtt aagagttctg ttctcttgcc aacctggctg
     1741 ggcaaaagcc tgtgccatct ttcactggga ggcaaatatg tttttcatcc tgccatatga
     1801 cacctatgag aaacgttcac agtgaggagt agccaggttg ctaggacagt aaccctgcca
     1861 cacactgcct gaaatcggaa ctcccttggc ctccctctta actaagtgac ccatgtagaa
     1921 ggaagccagg agatatggta ccgaacaatg acaggggaag ggtattggac acggcagcgt
     1981 cctccttatt gaaaacacat tatgtcagtt gggaatttta aataagcttt tagcaaacct
     2041 aacactaaaa gcaaaataga agaaagctat accattacca taatacattt ttcatctcat
     2101 ggctacaatg gaattcttga aaaggaaaaa aaatcctatc tacatataaa aacctgcatg
     2161 aatgaatcac tacatatgct tataatgagg aagagttatg ggtcctgagt gtaatttttt
     2221 atcctttctt aaaaagtttc tgtattatgc attttgataa cactactgat gatccttcca
     2281 cttatatttg aaatgttatg taccacattt gcacaattaa aacttttctt agcgttcaac
     2341 ct
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  



&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001478. Homo sapiens UDP-...[gi:4809289] Links  


LOCUS       GALGT                   2885 bp    mRNA    linear   PRI 03-FEB-2001
DEFINITION  Homo sapiens
            UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-
            galactosylglucosylceramide N-acetylgalactosaminyltransferase
            (GalNAc-T) (GALGT), mRNA.
ACCESSION   NM_001478
VERSION     NM_001478.2  GI:4809289
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2885)
  AUTHORS   Nagata,Y., Yamashiro,S., Yodoi,J., Lloyd,K.O., Shiku,H. and
            Furukawa,K.
  TITLE     Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase
            cDNAs that determine the expression of GM2 and GD2 gangliosides
  JOURNAL   J. Biol. Chem. 267 (17), 12082-12089 (1992)
  MEDLINE   92291088
   PUBMED   1601877
REFERENCE   2  (bases 1 to 2885)
  AUTHORS   Nagata,Y., Yamashiro,S., Yodoi,J., Lloyd,K.O., Shiku,H. and
            Furukawa,K.
  TITLE     Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase
            cDNAs that determine the expression of GM2 and GD2 gangliosides
  JOURNAL   J. Biol. Chem. 269 (9), 7045 (1994)
  MEDLINE   94165113
   PUBMED   8120069
REFERENCE   3  (bases 1 to 2885)
  AUTHORS   Furukawa,K., Soejima,H., Niikawa,N. and Shiku,H.
  TITLE     Genomic organization and chromosomal assignment of the human beta1,
            4-N-acetylgalactosaminyltransferase gene. Identification of
            multiple transcription units
  JOURNAL   J. Biol. Chem. 271 (34), 20836-20844 (1996)
  MEDLINE   96355429
   PUBMED   8702839
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M83651.1 and L76079.1.
            On May 13, 1999 this sequence version replaced gi:4503892.
            Summary: GM2 and GD2 gangliosides are sialic acid-containing
            glycosphingolipids. GalNAc-T is the enzyme involved in the
            biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T
            catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4
            linkage, resulting in the synthesis of G(M2) and G(D2),
            respectively.
            Transcript Variant: This entry contains mRNA sequence for
            alternative untranslated exon 1a which overlaps with that of
            alternative untranslated exon 1b. An alternative untranslated exon
            1c that does not overlap with this sequence has also been
            described.
            COMPLETENESS: complete on the 5' end.
FEATURES             Location/Qualifiers
     source          1..2885
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..2885
                     /gene="GALGT"
                     /note="GALNACT"
                     /db_xref="LocusID:2583"
                     /db_xref="MIM:601873"
     misc_feature    259..433
                     /gene="GALGT"
                     /note="alternative first exon 1b"
                     /citation=[3]
                     /evidence=experimental
     CDS             434..2035
                     /gene="GALGT"
                     /EC_number="2.4.1.92"
                     /note="beta-1,4 N-acetylgalactosaminyltransferase;
                     G(M2)/G(D2) synthase;
                     UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-;
                     beta1,4GalNAc-T; GalNAc-T"
                     /codon_start=1
                     /product="UDP-N-acetyl-alpha-D-galactosamine:(N-
                     acetylneuraminyl)-galactosylglucosylceramide
                     N-acetylgalactosaminyltransferase"
                     /protein_id="NP_001469.1"
                     /db_xref="GI:4503893"
                     /db_xref="LocusID:2583"
                     /db_xref="MIM:601873"
                     /translation="MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQ
                     SPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDL
                     TKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI
                     LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNR
                     QLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNIS
                     ALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGK
                     GWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGF
                     ATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFFLARTDKVREVG
                     FDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPG
                     SLDESQMAKHRLLFFKHRLQCMTSQ"
     misc_feature    455..508
                     /gene="GALGT"
                     /note="signal-anchor; transmembrane-region site"
     misc_feature    1271..1750
                     /gene="GALGT"
                     /note="Glycos_transf_2; Region: Glycosyl transferases"
                     /db_xref="CDD:pfam00535"
     misc_feature    434..454
                     /gene="GALGT"
                     /note="cytoplasmic domain"
     misc_feature    509..2032
                     /gene="GALGT"
                     /note="catalytic domain; lumenal"
     variation       complement(2426)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3741418"
     variation       2630
                     /gene="GALGT"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1064308"
BASE COUNT      556 a    952 c    828 g    549 t
ORIGIN      
        1 gcattccccc gcgcggagcc gaagcagccg caacgagccg ggagctgagc cgcgctgcgc
       61 tgcggtgcga agagccgggc ggcggccaga gccctccccg cgctgccagt gggacgcgga
      121 gccagggatc cccggctttg ccccggggct ggggtgcaac agactcttaa cttggtcctc
      181 gcgccccgcc aaccgccccc gggcaggaaa cggccagaac caccaccgcg ccgcgctcca
      241 caaaagcccc gggagttcca agacgggagg gatcgggcgc gctccagagg caggagggtc
      301 ccccacaccc tcaggctcat gcccagctcc cccatcggac agcccccagc cccatgagga
      361 ccctcaggcc cggggcgaga gcccggcaca gcccggaccg aaattttgcc gctgccttag
      421 agcgttagac aggatgtggc tgggccgccg ggccctgtgc gctctggtcc ttctgctcgc
      481 ctgcgcctcg ctggggctcc tgtacgcgag cacccgggac gcgcccggcc tccggctacc
      541 tcttgcgccg tgggcgcccc cgcaaagccc ccgcaggccc gagctgccag atcttgctcc
      601 tgagccccgc tacgcacaca tcccggtcag gatcaaggag caagtagtgg ggctgctggc
      661 ttggaacaac tgcagttgtg agtccagtgg ggggggcctc cccctcccct tccagaaaca
      721 agtccgagct attgacctca ccaaggcctt tgaccctgca gagctgaggg ctgcctctgc
      781 cacaagagag caggagttcc aggcctttct gtcgaggagc cagtccccag ctgaccagct
      841 gctcatagcc cctgccaact ccccgctcca gtacccccta cagggtgtgg aagttcagcc
      901 cctcaggagc atcttggtgc cagggctgag ccttcaggca gcttctggtc aggaggtata
      961 ccaggtgaac ctgactgcct ccctaggcac ctgggacgtg gcaggggaag tgactggagt
     1021 tactctcact ggagagggtc aggcagatct cacccttgtc agcccagggc tggaccaact
     1081 caacaggcaa ctacaactgg tcacttacag cagccgaagc taccagacca acacagcaga
     1141 cacagtccgg ttctccaccg agggacatga ggctgctttc actatccgca taagacaccc
     1201 gcccaaccct cggctgtacc cacctgggtc tctaccccag ggagcccagt acaacatcag
     1261 cgctctagtc acgattgcca ccaagacctt cctccgttat gatcggctac gggctctcat
     1321 caccagtatc cgccgcttct acccaacggt taccgtggtc atcgctgacg acagcgacaa
     1381 gccagagcgc gttagtggcc cctacgtgga acactatctc atgcccttcg gcaagggctg
     1441 gttcgcaggc cggaacctgg ccgtgtctca agtaaccacc aagtacgtgc tgtgggtgga
     1501 cgacgacttc gtcttcacgg cgcggacgcg gctggagagg cttgtggacg tgctggagcg
     1561 gacgccgctg gacctggtgg ggggcgcggt gcgcgagatc tccggctttg ccaccactta
     1621 tcggcagctg ctgagcgtgg agcccggcgc cccaggcctc gggaactgcc tccggcaaag
     1681 gcgcggcttc caccacgagc tcgtcggctt cccaggctgc gtggtcaccg acggcgtggt
     1741 taacttcttc ctggcgcgga ctgacaaggt gcgcgaggtc ggtttcgacc cccgcctcag
     1801 ccgcgtggct catctggaat tcttcttgga tgggcttggt tcccttcggg ttggctcctg
     1861 ctccgacgtc gtggtggatc atgcatccaa actgaagctg ccttggacat caagggatgc
     1921 cggagcagag acttacgccc ggtaccgtta cccaggatca ctggacgaga gccagatggc
     1981 caaacaccgg ctgctcttct tcaaacaccg gctgcagtgc atgacctccc agtgatggcc
     2041 cgctggggat ttctgactgt caggctgggc ctgcctcctt gtccctgcca ggaatttcca
     2101 acaaacccca ccaccctgtg agcactctac tggctgtccc tgagcctcta gttcctcact
     2161 cttccttttc agaacctgat gcccagtagg ggttgtcctg gtgacacccc tcctttttcc
     2221 agtgcccaga ggcctggtgg agccataacc tctcccacag ccagtgccaa gtcctccccc
     2281 tgcccattct catggggcag gaaatggggg gatcactttc caagtgccaa agagcccaga
     2341 gggactctaa gaacctaagg tggaaacact gtcctctcat cttgggaccg agggggtggg
     2401 gaagttcccc aacacataat cccaagactg tgcccctcat ctgcatcttc agatccagta
     2461 ctctgtgtac ctgctccagc cccaccccca cagagagaac ttgtggctct ggggctgggg
     2521 tgagggctgg tggttggtga aagccattct tagttgtgtc tctgcaatgc tgtgggcaca
     2581 aaagaagggg caccagagtc cctgtgcaaa cacctagact cacttcatgg attccaaagc
     2641 tctcagcttc attttattag ttacgttagg taagggggtt caagggtcat ggtcctcatc
     2701 acacacatgt catcagggcc ctcctgcact ccacatgatg aggtcagacc cacacggtgc
     2761 aaatctttgg gtcagtgagc tcctggagaa gagaggagac atgtcaggaa tagattaggc
     2821 acccctcttc cttaatgaaa tgtggcagtc ctctcagggg taccccacct acttagggat
     2881 ctgag
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  




&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005502. Homo sapiens ATP-...[gi:21536375] Links  


LOCUS       ABCA1                  10412 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1
            (ABCA1), mRNA.
ACCESSION   NM_005502
VERSION     NM_005502.2  GI:21536375
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 10412)
  AUTHORS   Luciani,M.F., Denizot,F., Savary,S., Mattei,M.G. and Chimini,G.
  TITLE     Cloning of two novel ABC transporters mapping on human chromosome 9
  JOURNAL   Genomics 21 (1), 150-159 (1994)
  MEDLINE   94375008
   PUBMED   8088782
REFERENCE   2  (bases 1 to 10412)
  AUTHORS   Becq,F., Hamon,Y., Bajetto,A., Gola,M., Verrier,B. and Chimini,G.
  TITLE     ABC1, an ATP binding cassette transporter required for phagocytosis
            of apoptotic cells, generates a regulated anion flux after
            expression in Xenopus laevis oocytes
  JOURNAL   J. Biol. Chem. 272 (5), 2695-2699 (1997)
  MEDLINE   97160572
   PUBMED   9006906
REFERENCE   3  (bases 1 to 10412)
  AUTHORS   Rust,S., Walter,M., Funke,H., von Eckardstein,A., Cullen,P.,
            Kroes,H.Y., Hordijk,R., Geisel,J., Kastelein,J., Molhuizen,H.O.,
            Schreiner,M., Mischke,A., Hahmann,H.W. and Assmann,G.
  TITLE     Assignment of Tangier disease to chromosome 9q31 by a graphical
            linkage exclusion strategy
  JOURNAL   Nat. Genet. 20 (1), 96-98 (1998)
  MEDLINE   98400267
   PUBMED   9731541
REFERENCE   4  (bases 1 to 10412)
  AUTHORS   Langmann,T., Klucken,J., Reil,M., Liebisch,G., Luciani,M.F.,
            Chimini,G., Kaminski,W.E. and Schmitz,G.
  TITLE     Molecular cloning of the human ATP-binding cassette transporter 1
            (hABC1): evidence for sterol-dependent regulation in macrophages
  JOURNAL   Biochem. Biophys. Res. Commun. 257 (1), 29-33 (1999)
  MEDLINE   99194549
   PUBMED   10092505
REFERENCE   5  (bases 1 to 10412)
  AUTHORS   Brooks-Wilson,A., Marcil,M., Clee,S.M., Zhang,L.H., Roomp,K., van
            Dam,M., Yu,L., Brewer,C., Collins,J.A., Molhuizen,H.O., Loubser,O.,
            Ouelette,B.F., Fichter,K., Ashbourne-Excoffon,K.J., Sensen,C.W.,
            Scherer,S., Mott,S., Denis,M., Martindale,D., Frohlich,J.,
            Morgan,K., Koop,B., Pimstone,S., Kastelein,J.J., Hayden,M.R. et al.
  TITLE     Mutations in ABC1 in Tangier disease and familial high-density
            lipoprotein deficiency
  JOURNAL   Nat. Genet. 22 (4), 336-345 (1999)
  MEDLINE   99364411
   PUBMED   10431236
REFERENCE   6  (bases 1 to 10412)
  AUTHORS   Bodzioch,M., Orso,E., Klucken,J., Langmann,T., Bottcher,A.,
            Diederich,W., Drobnik,W., Barlage,S., Buchler,C.,
            Porsch-Ozcurumez,M., Kaminski,W.E., Hahmann,H.W., Oette,K.,
            Rothe,G., Aslanidis,C., Lackner,K.J. and Schmitz,G.
  TITLE     The gene encoding ATP-binding cassette transporter 1 is mutated in
            Tangier disease
  JOURNAL   Nat. Genet. 22 (4), 347-351 (1999)
  MEDLINE   99364412
   PUBMED   10431237
REFERENCE   7  (bases 1 to 10412)
  AUTHORS   Rust,S., Rosier,M., Funke,H., Real,J., Amoura,Z., Piette,J.C.,
            Deleuze,J.F., Brewer,H.B., Duverger,N., Denefle,P. and Assmann,G.
  TITLE     Tangier disease is caused by mutations in the gene encoding
            ATP-binding cassette transporter 1
  JOURNAL   Nat. Genet. 22 (4), 352-355 (1999)
  MEDLINE   99364413
   PUBMED   10431238
REFERENCE   8  (bases 1 to 10412)
  AUTHORS   Lawn,R.M., Wade,D.P., Garvin,M.R., Wang,X., Schwartz,K.,
            Porter,J.G., Seilhamer,J.J., Vaughan,A.M. and Oram,J.F.
  TITLE     The Tangier disease gene product ABC1 controls the cellular
            apolipoprotein-mediated lipid removal pathway
  JOURNAL   J. Clin. Invest. 104 (8), R25-R31 (1999)
  MEDLINE   99454823
   PUBMED   10525055
REFERENCE   9  (bases 1 to 10412)
  AUTHORS   Remaley,A.T., Rust,S., Rosier,M., Knapper,C., Naudin,L.,
            Broccardo,C., Peterson,K.M., Koch,C., Arnould,I., Prades,C.,
            Duverger,N., Funke,H., Assman,G., Dinger,M., Dean,M., Chimini,G.,
            Santamarina-Fojo,S., Fredrickson,D.S., Denefle,P. and Brewer,H.B.
            Jr.
  TITLE     Human ATP-binding cassette transporter 1 (ABC1): genomic
            organization and identification of the genetic defect in the
            original Tangier disease kindred
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 96 (22), 12685-12690 (1999)
  MEDLINE   20006295
   PUBMED   10535983
REFERENCE   10 (bases 1 to 10412)
  AUTHORS   Pullinger,C.R., Hakamata,H., Duchateau,P.N., Eng,C.,
            Aouizerat,B.E., Cho,M.H., Fielding,C.J. and Kane,J.P.
  TITLE     Analysis of hABC1 gene 5' end: additional peptide sequence,
            promoter region, and four polymorphisms
  JOURNAL   Biochem. Biophys. Res. Commun. 271 (2), 451-455 (2000)
  MEDLINE   20261282
   PUBMED   10799318
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF165281.1 and AF275948.1.
            On Jun 21, 2002 this sequence version replaced gi:5915657.
            Summary: The membrane-associated protein encoded by this gene is a
            member of the superfamily of ATP-binding cassette (ABC)
            transporters.  ABC proteins transport various molecules across
            extra- and intracellular membranes.  ABC genes are divided into
            seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
            White).  This protein is a member of the ABC1 subfamily.  Members
            of the ABC1 subfamily comprise the only major ABC subfamily found
            exclusively in multicellular eukaryotes.  With cholesterol as its
            substrate, this protein functions as a cholesteral efflux pump in
            the cellular lipid removal pathway.  Mutations in this gene have
            been associated with Tangier's disease and familial high-density
            lipoprotein deficiency.
FEATURES             Location/Qualifiers
     source          1..10412
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..10412
                     /gene="ABCA1"
                     /note="TGD; ABC1; CERP; HDLDT1; Tangier; disease; Tangier
                     disease"
                     /db_xref="LocusID:19"
                     /db_xref="MIM:600046"
     CDS             314..7099
                     /gene="ABCA1"
                     /note="ATP-binding cassette 1; high density lipoprotein
                     deficiency, Tangier type, 1; cholesterol efflux regulatory
                     protein"
                     /codon_start=1
                     /product="ATP-binding cassette, sub-family A member 1"
                     /protein_id="NP_005493.2"
                     /db_xref="GI:21536376"
                     /db_xref="LocusID:19"
                     /db_xref="MIM:600046"
                     /translation="MACWPQLRLLLWKNLTFRRRQTCQLLLEVAWPLFIFLILISVRL
                     SYPPYEQHECHFPNKAMPSAGTLPWVQGIICNANNPCFRYPTPGEAPGVVGNFNKSIV
                     ARLFSDARRLLLYSQKDTSMKDMRKVLRTLQQIKKSSSNLKLQDFLVDNETFSGFLYH
                     NLSLPKSTVDKMLRADVILHKVFLQGYQLHLTSLCNGSKSEEMIQLGDQEVSELCGLP
                     REKLAAAERVLRSNMDILKPILRTLNSTSPFPSKELAEATKTLLHSLGTLAQELFSMR
                     SWSDMRQEVMFLTNVNSSSSSTQIYQAVSRIVCGHPEGGGLKIKSLNWYEDNNYKALF
                     GGNGTEEDAETFYDNSTTPYCNDLMKNLESSPLSRIIWKALKPLLVGKILYTPDTPAT
                     RQVMAEVNKTFQELAVFHDLEGMWEELSPKIWTFMENSQEMDLVRMLLDSRDNDHFWE
                     QQLDGLDWTAQDIVAFLAKHPEDVQSSNGSVYTWREAFNETNQAIRTISRFMECVNLN
                     KLEPIATEVWLINKSMELLDERKFWAGIVFTGITPGSIELPHHVKYKIRMDIDNVERT
                     NKIKDGYWDPGPRADPFEDMRYVWGGFAYLQDVVEQAIIRVLTGTEKKTGVYMQQMPY
                     PCYVDDIFLRVMSRSMPLFMTLAWIYSVAVIIKGIVYEKEARLKETMRIMGLDNSILW
                     FSWFISSLIPLLVSAGLLVVILKLGNLLPYSDPSVVFVFLSVFAVVTILQCFLISTLF
                     SRANLAAACGGIIYFTLYLPYVLCVAWQDYVGFTLKIFASLLSPVAFGFGCEYFALFE
                     EQGIGVQWDNLFESPVEEDGFNLTTSVSMMLFDTFLYGVMTWYIEAVFPGQYGIPRPW
                     YFPCTKSYWFGEESDEKSHPGSNQKRISEICMEEEPTHLKLGVSIQNLVKVYRDGMKV
                     AVDGLALNFYEGQITSFLGHNGAGKTTTMSILTGLFPPTSGTAYILGKDIRSEMSTIR
                     QNLGVCPQHNVLFDMLTVEEHIWFYARLKGLSEKHVKAEMEQMALDVGLPSSKLKSKT
                     SQLSGGMQRKLSVALAFVGGSKVVILDEPTAGVDPYSRRGIWELLLKYRQGRTIILST
                     HHMDEADVLGDRIAIISHGKLCCVGSSLFLKNQLGTGYYLTLVKKDVESSLSSCRNSS
                     STVSYLKKEDSVSQSSSDAGLGSDHESDTLTIDVSAISNLIRKHVSEARLVEDIGHEL
                     TYVLPYEAAKEGAFVELFHEIDDRLSDLGISSYGISETTLEEIFLKVAEESGVDAETS
                     DGTLPARRNRRAFGDKQSCLRPFTEDDAADPNDSDIDPESRETDLLSGMDGKGSYQVK
                     GWKLTQQQFVALLWKRLLIARRSRKGFFAQIVLPAVFVCIALVFSLIVPPFGKYPSLE
                     LQPWMYNEQYTFVSNDAPEDTGTLELLNALTKDPGFGTRCMEGNPIPDTPCQAGEEEW
                     TTAPVPQTIMDLFQNGNWTMQNPSPACQCSSDKIKKMLPVCPPGAGGLPPPQRKQNTA
                     DILQDLTGRNISDYLVKTYVQIIAKSLKNKIWVNEFRYGGFSLGVSNTQALPPSQEVN
                     DAIKQMKKHLKLAKDSSADRFLNSLGRFMTGLDTKNNVKVWFNNKGWHAISSFLNVIN
                     NAILRANLQKGENPSHYGITAFNHPLNLTKQQLSEVALMTTSVDVLVSICVIFAMSFV
                     PASFVVFLIQERVSKAKHLQFISGVKPVIYWLSNFVWDMCNYVVPATLVIIIFICFQQ
                     KSYVSSTNLPVLALLLLLYGWSITPLMYPASFVFKIPSTAYVVLTSVNLFIGINGSVA
                     TFVLELFTDNKLNNINDILKSVFLIFPHFCLGRGLIDMVKNQAMADALERFGENRFVS
                     PLSWDLVGRNLFAMAVEGVVFFLITVLIQYRFFIRPRPVNAKLSPLNDEDEDVRRERQ
                     RILDGGGQNDILEIKELTKIYRRKRKPAVDRICVGIPPGECFGLLGVNGAGKSSTFKM
                     LTGDTTVTRGDAFLNKNSILSNIHEVHQNMGYCPQFDAITELLTGREHVEFFALLRGV
                     PEKEVGKVGEWAIRKLGLVKYGEKYAGNYSGGNKRKLSTAMALIGGPPVVFLDEPTTG
                     MDPKARRFLWNCALSVVKEGRSVVLTSHSMEECEALCTRMAIMVNGRFRCLGSVQHLK
                     NRFGDGYTIVVRIAGSNPDLKPVQDFFGLAFPGSVLKEKHRNMLQYQLPSSLSSLARI
                     FSILSQSKKRLHIEDYSVSQTTLDQVFVNFAKDQSDDDHLKDLSLHKNQTVVDVAVLT
                     SFLQDEKVKESYV"
     misc_feature    3089..3634
                     /gene="ABCA1"
                     /note="Region: pfam00005, ABC_tran, ABC transporter. ABC
                     transporters for a large family of proteins responsible
                     for translocation of a variety of compounds across
                     biological membranes. ABC transporters are the largest
                     family of proteins in many completely sequenced bacteria.
                     ABC transporters are composed of two copies of this domain
                     and two copies of a transmembrane domain pfam00664. These
                     four domains may belong to a single polypeptide or belong
                     in different polypeptide chains"
     misc_feature    6128..6673
                     /gene="ABCA1"
                     /note="Region: pfam00005, ABC_tran, ABC transporter. ABC
                     transporters for a large family of proteins responsible
                     for translocation of a variety of compounds across
                     biological membranes. ABC transporters are the largest
                     family of proteins in many completely sequenced bacteria.
                     ABC transporters are composed of two copies of this domain
                     and two copies of a transmembrane domain pfam00664. These
                     four domains may belong to a single polypeptide or belong
                     in different polypeptide chains"
     variation       787
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230805"
     variation       1078
                     /gene="ABCA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2853573"
     variation       complement(1249)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2274873"
     variation       2072
                     /gene="ABCA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2853574"
     variation       2103
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2853578"
     variation       2353
                     /gene="ABCA1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2853579"
     variation       complement(2353)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3753026"
     variation       2962
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2066714"
     variation       3997
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2230807"
     variation       6234
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2853581"
     variation       6816
                     /gene="ABCA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2853577"
     variation       8995
                     /gene="ABCA1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:363717"
     variation       10265
                     /gene="ABCA1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1137170"
BASE COUNT     2831 a   2304 c   2423 g   2854 t
ORIGIN      
        1 gtaattgcga gcgagagtga gtggggccgg gacccgcaga gccgagccga cccttctctc
       61 ccgggctgcg gcagggcagg gcggggagct ccgcgcacca acagagccgg ttctcagggc
      121 gctttgctcc ttgttttttc cccggttctg ttttctcccc ttctccggaa ggcttgtcaa
      181 ggggtaggag aaagagacgc aaacacaaaa gtggaaaaca gttaatgacc agccacggcg
      241 tccctgctgt gagctctggc cgctgccttc cagggctccc gagccacacg ctgggggtgc
      301 tggctgaggg aacatggctt gttggcctca gctgaggttg ctgctgtgga agaacctcac
      361 tttcagaaga agacaaacat gtcagctgct gctggaagtg gcctggcctc tatttatctt
      421 cctgatcctg atctctgttc ggctgagcta cccaccctat gaacaacatg aatgccattt
      481 tccaaataaa gccatgccct ctgcaggaac acttccttgg gttcagggga ttatctgtaa
      541 tgccaacaac ccctgtttcc gttacccgac tcctggggag gctcccggag ttgttggaaa
      601 ctttaacaaa tccattgtgg ctcgcctgtt ctcagatgct cggaggcttc ttttatacag
      661 ccagaaagac accagcatga aggacatgcg caaagttctg agaacattac agcagatcaa
      721 gaaatccagc tcaaacttga agcttcaaga tttcctggtg gacaatgaaa ccttctctgg
      781 gttcctgtat cacaacctct ctctcccaaa gtctactgtg gacaagatgc tgagggctga
      841 tgtcattctc cacaaggtat ttttgcaagg ctaccagtta catttgacaa gtctgtgcaa
      901 tggatcaaaa tcagaagaga tgattcaact tggtgaccaa gaagtttctg agctttgtgg
      961 cctaccaagg gagaaactgg ctgcagcaga gcgagtactt cgttccaaca tggacatcct
     1021 gaagccaatc ctgagaacac taaactctac atctcccttc ccgagcaagg agctggctga
     1081 agccacaaaa acattgctgc atagtcttgg gactctggcc caggagctgt tcagcatgag
     1141 aagctggagt gacatgcgac aggaggtgat gtttctgacc aatgtgaaca gctccagctc
     1201 ctccacccaa atctaccagg ctgtgtctcg tattgtctgc gggcatcccg agggaggggg
     1261 gctgaagatc aagtctctca actggtatga ggacaacaac tacaaagccc tctttggagg
     1321 caatggcact gaggaagatg ctgaaacctt ctatgacaac tctacaactc cttactgcaa
     1381 tgatttgatg aagaatttgg agtctagtcc tctttcccgc attatctgga aagctctgaa
     1441 gccgctgctc gttgggaaga tcctgtatac acctgacact ccagccacaa ggcaggtcat
     1501 ggctgaggtg aacaagacct tccaggaact ggctgtgttc catgatctgg aaggcatgtg
     1561 ggaggaactc agccccaaga tctggacctt catggagaac agccaagaaa tggaccttgt
     1621 ccggatgctg ttggacagca gggacaatga ccacttttgg gaacagcagt tggatggctt
     1681 agattggaca gcccaagaca tcgtggcgtt tttggccaag cacccagagg atgtccagtc
     1741 cagtaatggt tctgtgtaca cctggagaga agctttcaac gagactaacc aggcaatccg
     1801 gaccatatct cgcttcatgg agtgtgtcaa cctgaacaag ctagaaccca tagcaacaga
     1861 agtctggctc atcaacaagt ccatggagct gctggatgag aggaagttct gggctggtat
     1921 tgtgttcact ggaattactc caggcagcat tgagctgccc catcatgtca agtacaagat
     1981 ccgaatggac attgacaatg tggagaggac aaataaaatc aaggatgggt actgggaccc
     2041 tggtcctcga gctgacccct ttgaggacat gcggtacgtc tgggggggct tcgcctactt
     2101 gcaggatgtg gtggagcagg caatcatcag ggtgctgacg ggcaccgaga agaaaactgg
     2161 tgtctatatg caacagatgc cctatccctg ttacgttgat gacatctttc tgcgggtgat
     2221 gagccggtca atgcccctct tcatgacgct ggcctggatt tactcagtgg ctgtgatcat
     2281 caagggcatc gtgtatgaga aggaggcacg gctgaaagag accatgcgga tcatgggcct
     2341 ggacaacagc atcctctggt ttagctggtt cattagtagc ctcattcctc ttcttgtgag
     2401 cgctggcctg ctagtggtca tcctgaagtt aggaaacctg ctgccctaca gtgatcccag
     2461 cgtggtgttt gtcttcctgt ccgtgtttgc tgtggtgaca atcctgcagt gcttcctgat
     2521 tagcacactc ttctccagag ccaacctggc agcagcctgt gggggcatca tctacttcac
     2581 gctgtacctg ccctacgtcc tgtgtgtggc atggcaggac tacgtgggct tcacactcaa
     2641 gatcttcgct agcctgctgt ctcctgtggc ttttgggttt ggctgtgagt actttgccct
     2701 ttttgaggag cagggcattg gagtgcagtg ggacaacctg tttgagagtc ctgtggagga
     2761 agatggcttc aatctcacca cttcggtctc catgatgctg tttgacacct tcctctatgg
     2821 ggtgatgacc tggtacattg aggctgtctt tccaggccag tacggaattc ccaggccctg
     2881 gtattttcct tgcaccaagt cctactggtt tggcgaggaa agtgatgaga agagccaccc
     2941 tggttccaac cagaagagaa tatcagaaat ctgcatggag gaggaaccca cccacttgaa
     3001 gctgggcgtg tccattcaga acctggtaaa agtctaccga gatgggatga aggtggctgt
     3061 cgatggcctg gcactgaatt tttatgaggg ccagatcacc tccttcctgg gccacaatgg
     3121 agcggggaag acgaccacca tgtcaatcct gaccgggttg ttccccccga cctcgggcac
     3181 cgcctacatc ctgggaaaag acattcgctc tgagatgagc accatccggc agaacctggg
     3241 ggtctgtccc cagcataacg tgctgtttga catgctgact gtcgaagaac acatctggtt
     3301 ctatgcccgc ttgaaagggc tctctgagaa gcacgtgaag gcggagatgg agcagatggc
     3361 cctggatgtt ggtttgccat caagcaagct gaaaagcaaa acaagccagc tgtcaggtgg
     3421 aatgcagaga aagctatctg tggccttggc ctttgtcggg ggatctaagg ttgtcattct
     3481 ggatgaaccc acagctggtg tggaccctta ctcccgcagg ggaatatggg agctgctgct
     3541 gaaataccga caaggccgca ccattattct ctctacacac cacatggatg aagcggacgt
     3601 cctgggggac aggattgcca tcatctccca tgggaagctg tgctgtgtgg gctcctccct
     3661 gtttctgaag aaccagctgg gaacaggcta ctacctgacc ttggtcaaga aagatgtgga
     3721 atcctccctc agttcctgca gaaacagtag tagcactgtg tcatacctga aaaaggagga
     3781 cagtgtttct cagagcagtt ctgatgctgg cctgggcagc gaccatgaga gtgacacgct
     3841 gaccatcgat gtctctgcta tctccaacct catcaggaag catgtgtctg aagcccggct
     3901 ggtggaagac atagggcatg agctgaccta tgtgctgcca tatgaagctg ctaaggaggg
     3961 agcctttgtg gaactctttc atgagattga tgaccggctc tcagacctgg gcatttctag
     4021 ttatggcatc tcagagacga ccctggaaga aatattcctc aaggtggccg aagagagtgg
     4081 ggtggatgct gagacctcag atggtacctt gccagcaaga cgaaacaggc gggccttcgg
     4141 ggacaagcag agctgtcttc gcccgttcac tgaagatgat gctgctgatc caaatgattc
     4201 tgacatagac ccagaatcca gagagacaga cttgctcagt gggatggatg gcaaagggtc
     4261 ctaccaggtg aaaggctgga aacttacaca gcaacagttt gtggcccttt tgtggaagag
     4321 actgctaatt gccagacgga gtcggaaagg attttttgct cagattgtct tgccagctgt
     4381 gtttgtctgc attgcccttg tgttcagcct gatcgtgcca ccctttggca agtaccccag
     4441 cctggaactt cagccctgga tgtacaacga acagtacaca tttgtcagca atgatgctcc
     4501 tgaggacacg ggaaccctgg aactcttaaa cgccctcacc aaagaccctg gcttcgggac
     4561 ccgctgtatg gaaggaaacc caatcccaga cacgccctgc caggcagggg aggaagagtg
     4621 gaccactgcc ccagttcccc agaccatcat ggacctcttc cagaatggga actggacaat
     4681 gcagaaccct tcacctgcat gccagtgtag cagcgacaaa atcaagaaga tgctgcctgt
     4741 gtgtccccca ggggcagggg ggctgcctcc tccacaaaga aaacaaaaca ctgcagatat
     4801 ccttcaggac ctgacaggaa gaaacatttc ggattatctg gtgaagacgt atgtgcagat
     4861 catagccaaa agcttaaaga acaagatctg ggtgaatgag tttaggtatg gcggcttttc
     4921 cctgggtgtc agtaatactc aagcacttcc tccgagtcaa gaagttaatg atgccatcaa
     4981 acaaatgaag aaacacctaa agctggccaa ggacagttct gcagatcgat ttctcaacag
     5041 cttgggaaga tttatgacag gactggacac caaaaataat gtcaaggtgt ggttcaataa
     5101 caagggctgg catgcaatca gctctttcct gaatgtcatc aacaatgcca ttctccgggc
     5161 caacctgcaa aagggagaga accctagcca ttatggaatt actgctttca atcatcccct
     5221 gaatctcacc aagcagcagc tctcagaggt ggctctgatg accacatcag tggatgtcct
     5281 tgtgtccatc tgtgtcatct ttgcaatgtc cttcgtccca gccagctttg tcgtattcct
     5341 gatccaggag cgggtcagca aagcaaaaca cctgcagttc atcagtggag tgaagcctgt
     5401 catctactgg ctctctaatt ttgtctggga tatgtgcaat tacgttgtcc ctgccacact
     5461 ggtcattatc atcttcatct gcttccagca gaagtcctat gtgtcctcca ccaatctgcc
     5521 tgtgctagcc cttctacttt tgctgtatgg gtggtcaatc acacctctca tgtacccagc
     5581 ctcctttgtg ttcaagatcc ccagcacagc ctatgtggtg ctcaccagcg tgaacctctt
     5641 cattggcatt aatggcagcg tggccacctt tgtgctggag ctgttcaccg acaataagct
     5701 gaataatatc aatgatatcc tgaagtccgt gttcttgatc ttcccacatt tttgcctggg
     5761 acgagggctc atcgacatgg tgaaaaacca ggcaatggct gatgccctgg aaaggtttgg
     5821 ggagaatcgc tttgtgtcac cattatcttg ggacttggtg ggacgaaacc tcttcgccat
     5881 ggccgtggaa ggggtggtgt tcttcctcat tactgttctg atccagtaca gattcttcat
     5941 caggcccaga cctgtaaatg caaagctatc tcctctgaat gatgaagatg aagatgtgag
     6001 gcgggaaaga cagagaattc ttgatggtgg aggccagaat gacatcttag aaatcaagga
     6061 gttgacgaag atatatagaa ggaagcggaa gcctgctgtt gacaggattt gcgtgggcat
     6121 tcctcctggt gagtgctttg ggctcctggg agttaatggg gctggaaaat catcaacttt
     6181 caagatgtta acaggagata ccactgttac cagaggagat gctttcctta acaaaaatag
     6241 tatcttatca aacatccatg aagtacatca gaacatgggc tactgccctc agtttgatgc
     6301 catcacagag ctgttgactg ggagagaaca cgtggagttc tttgcccttt tgagaggagt
     6361 cccagagaaa gaagttggca aggttggtga gtgggcgatt cggaaactgg gcctcgtgaa
     6421 gtatggagaa aaatatgctg gtaactatag tggaggcaac aaacgcaagc tctctacagc
     6481 catggctttg atcggcgggc ctcctgtggt gtttctggat gaacccacca caggcatgga
     6541 tcccaaagcc cggcggttct tgtggaattg tgccctaagt gttgtcaagg aggggagatc
     6601 agtagtgctt acatctcata gtatggaaga atgtgaagct ctttgcacta ggatggcaat
     6661 catggtcaat ggaaggttca ggtgccttgg cagtgtccag catctaaaaa ataggtttgg
     6721 agatggttat acaatagttg tacgaatagc agggtccaac ccggacctga agcctgtcca
     6781 ggatttcttt ggacttgcat ttcctggaag tgttctaaaa gagaaacacc ggaacatgct
     6841 acaataccag cttccatctt cattatcttc tctggccagg atattcagca tcctctccca
     6901 gagcaaaaag cgactccaca tagaagacta ctctgtttct cagacaacac ttgaccaagt
     6961 atttgtgaac tttgccaagg accaaagtga tgatgaccac ttaaaagacc tctcattaca
     7021 caaaaaccag acagtagtgg acgttgcagt tctcacatct tttctacagg atgagaaagt
     7081 gaaagaaagc tatgtatgaa gaatcctgtt catacggggt ggctgaaagt aaagaggaac
     7141 tagactttcc tttgcaccat gtgaagtgtt gtggagaaaa gagccagaag ttgatgtggg
     7201 aagaagtaaa ctggatactg tactgatact attcaatgca atgcaattca atgcaatgaa
     7261 aacaaaattc cattacaggg gcagtgcctt tgtagcctat gtcttgtatg gctctcaagt
     7321 gaaagacttg aatttagttt tttacctata cctatgtgaa actctattat ggaacccaat
     7381 ggacatatgg gtttgaactc acactttttt tttttttttt gttcctgtgt attctcattg
     7441 gggttgcaac aataattcat caagtaatca tggccagcga ttattgatca aaatcaaaag
     7501 gtaatgcaca tcctcattca ctaagccatg ccatgcccag gagactggtt tcccggtgac
     7561 acatccattg ctggcaatga gtgtgccaga gttattagtg ccaagttttt cagaaagttt
     7621 gaagcaccat ggtgtgtcat gctcactttt gtgaaagctg ctctgctcag agtctatcaa
     7681 cattgaatat cagttgacag aatggtgcca tgcgtggcta acatcctgct ttgattccct
     7741 ctgataagct gttctggtgg cagtaacatg caacaaaaat gtgggtgtct ccaggcacgg
     7801 gaaacttggt tccattgtta tattgtccta tgcttcgagc catgggtcta cagggtcatc
     7861 cttatgagac tcttaaatat acttagatcc tggtaagagg caaagaatca acagccaaac
     7921 tgctggggct gcaagctgct gaagccaggg catgggatta aagagattgt gcgttcaaac
     7981 ctagggaagc ctgtgcccat ttgtcctgac tgtctgctaa catggtacac tgcatctcaa
     8041 gatgtttatc tgacacaagt gtattatttc tggctttttg aattaatcta gaaaatgaaa
     8101 agatggagtt gtattttgac aaaaatgttt gtacttttta atgttatttg gaattttaag
     8161 ttctatcagt gacttctgaa tccttagaat ggcctctttg tagaaccctg tggtatagag
     8221 gagtatggcc actgccccac tatttttatt ttcttatgta agtttgcata tcagtcatga
     8281 ctagtgccta gaaagcaatg tgatggtcag gatctcatga cattatattt gagtttcttt
     8341 cagatcattt aggatactct taatctcact tcatcaatca aatatttttt gagtgtatgc
     8401 tgtagctgaa agagtatgta cgtacgtata agactagaga gatattaagt ctcagtacac
     8461 ttcctgtgcc atgttattca gctcactggt ttacaaatat aggttgtctt gtggttgtag
     8521 gagcccactg taacaatact gggcagcctt tttttttttt tttttaattg caacaatgca
     8581 aaagccaaga aagtataagg gtcacaagtc taaacaatga attcttcaac agggaaaaca
     8641 gctagcttga aaacttgctg aaaaacacaa cttgtgttta tggcatttag taccttcaaa
     8701 taattggctt tgcagatatt ggatacccca ttaaatctga cagtctcaaa tttttcatct
     8761 cttcaatcac tagtcaagaa aaatataaaa acaacaaata cttccatatg gagcattttt
     8821 cagagttttc taacccagtc ttatttttct agtcagtaaa catttgtaaa aatactgttt
     8881 cactaatact tactgttaac tgtcttgaga gaaaagaaaa atatgagaga actattgttt
     8941 ggggaagttc aagtgatctt tcaatatcat tactaacttc ttccactttt tccagaattt
     9001 gaatattaac gctaaaggtg taagacttca gatttcaaat taatctttct atatttttta
     9061 aatttacaga atattatata acccactgct gaaaaagaaa aaaatgattg ttttagaagt
     9121 taaagtcaat attgatttta aatataagta atgaaggcat atttccaata actagtgata
     9181 tggcatcgtt gcattttaca gtatcttcaa aaatacagaa tttatagaat aatttctcct
     9241 catttaatat ttttcaaaat caaagttatg gtttcctcat tttactaaaa tcgtattcta
     9301 attcttcatt atagtaaatc tatgagcaac tccttacttc ggttcctctg atttcaaggc
     9361 catattttaa aaaatcaaaa ggcactgtga actattttga agaaaacaca acattttaat
     9421 acagattgaa aggacctctt ctgaagctag aaacaatcta tagttataca tcttcattaa
     9481 tactgtgtta ccttttaaaa tagtaatttt ttacattttc ctgtgtaaac ctaattgtgg
     9541 tagaaatttt taccaactct atactcaatc aagcaaaatt tctgtatatt ccctgtggaa
     9601 tgtacctatg tgagtttcag aaattctcaa aatacgtgtt caaaaatttc tgcttttgca
     9661 tctttgggac acctcagaaa acttattaac aactgtgaat atgagaaata cagaagaaaa
     9721 taataagccc tctatacata aatgcccagc acaattcatt gttaaaaaac aaccaaacct
     9781 cacactactg tatttcatta tctgtactga aagcaaatgc tttgtgacta ttaaatgttg
     9841 cacatcattc attcactgta tagtaatcat tgactaaagc catttgtctg tgttttcttc
     9901 ttgtggttgt atatatcagg taaaatattt tccaaagagc catgtgtcat gtaatactga
     9961 accactttga tattgagaca ttaatttgta cccttgttat tatctactag taataatgta
    10021 atactgtaga aatattgctc taattctttt caaaattgtt gcatccccct tagaatgttt
    10081 ctatttccat aaggatttag gtatgctatt atcccttctt ataccctaag atgaagctgt
    10141 ttttgtgctc tttgttcatc attggccctc attccaagca ctttacgctg tctgtaatgg
    10201 gatctatttt tgcactggaa tatctgagaa ttgcaaaact agacaaaagt ttcacaacag
    10261 atttctaagt taaatcattt tcattaaaag gaaaaaagaa aaaaaatttt gtatgtcaat
    10321 aactttatat gaagtattaa aatgcatatt tctatgttgt aatataatga gtcacaaaat
    10381 aaagctgtga cagttctgtt ggtctacaga aa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Map ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002358. Homo sapiens MAD2...[gi:6466452] Links  


LOCUS       MAD2L1                  1390 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens MAD2 mitotic arrest deficient-like 1 (yeast) (MAD2L1),
            mRNA.
ACCESSION   NM_002358
VERSION     NM_002358.2  GI:6466452
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1390)
  AUTHORS   Li,Y. and Benezra,R.
  TITLE     Identification of a human mitotic checkpoint gene: hsMAD2
  JOURNAL   Science 274 (5285), 246-248 (1996)
  MEDLINE   96421709
   PUBMED   8824189
REFERENCE   2  (bases 1 to 1390)
  AUTHORS   Xu,L., Deng,H.X., Yang,Y., Xia,J.H., Hung,W.Y. and Siddque,T.
  TITLE     Assignment of mitotic arrest deficient protein 2 (MAD2L1) to human
            chromosome band 5q23.3 by in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 78 (1), 63-64 (1997)
  MEDLINE   98005920
   PUBMED   9345911
REFERENCE   3  (bases 1 to 1390)
  AUTHORS   Jin,D.Y., Spencer,F. and Jeang,K.T.
  TITLE     Human T cell leukemia virus type 1 oncoprotein Tax targets the
            human mitotic checkpoint protein MAD1
  JOURNAL   Cell 93 (1), 81-91 (1998)
  MEDLINE   98206470
   PUBMED   9546394
REFERENCE   4  (bases 1 to 1390)
  AUTHORS   Krishnan,R., Goodman,B., Jin,D.Y., Jeang,K.T., Collins,C.,
            Stetten,G. and Spencer,F.
  TITLE     Map location and gene structure of the Homo sapiens mitotic arrest
            deficient 2 (MAD2L1) gene at 4q27
  JOURNAL   Genomics 49 (3), 475-478 (1998)
  MEDLINE   98277464
   PUBMED   9615237
REFERENCE   5  (bases 1 to 1390)
  AUTHORS   Cahill,D.P., da Costa,L.T., Carson-Walter,E.B., Kinzler,K.W.,
            Vogelstein,B. and Lengauer,C.
  TITLE     Characterization of MAD2B and other mitotic spindle checkpoint
            genes
  JOURNAL   Genomics 58 (2), 181-187 (1999)
  MEDLINE   99296833
   PUBMED   10366450
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U31278.1.
            On Nov 23, 1999 this sequence version replaced gi:4505066.
            Summary: MAD2L1 is a component of the mitotic spindle assembly
            checkpoint that prevents the onset of anaphase until all
            chromosomes are properly aligned at the metaphase plate.  MAD2L1 is
            related to the MAD2L2 gene located on chromosome 1.  A MAD2
            pseudogene has been mapped to chromosome 14.
FEATURES             Location/Qualifiers
     source          1..1390
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q27"
     gene            1..1390
                     /gene="MAD2L1"
                     /note="MAD2; HSMAD2"
                     /db_xref="LocusID:4085"
                     /db_xref="MIM:601467"
     CDS             75..692
                     /gene="MAD2L1"
                     /note="MAD2 (mitotic arrest deficient, yeast,
                     homolog)-like 1; mitotic arrest deficient, yeast,
                     homolog-like 1"
                     /codon_start=1
                     /product="MAD2-like 1"
                     /protein_id="NP_002349.1"
                     /db_xref="GI:4505067"
                     /db_xref="LocusID:4085"
                     /db_xref="MIM:601467"
                     /translation="MALQLSREQGITLRGSAEIVAEFFSFGINSILYQRGIYPSETFT
                     RVQKYGLTLLVTTDLELIKYLNNVVEQLKDWLYKCSVQKLVVVISNIESGEVLERWQF
                     DIECDKTAKDDSAPREKSQKAIQDEIRSVIRQITATVTFLPLLEVSCSFDLLIYTDKD
                     LVVPEKWEESGPQFITNSEEVRLRSFTTTIHKVNSMVAYKIPVND"
     misc_feature    108..674
                     /gene="MAD2L1"
                     /note="Region: pfam02301, HORMA, HORMA domain. The HORMA
                     (for Hop1p, Rev7p and MAD2) domain has been suggested to
                     recognise chromatin states that result from DNA adducts,
                     double stranded breaks or non-attachment to the spindle
                     and acts as an adaptor that recruits other proteins. MAD2
                     is a spindle checkpoint protein which prevents progression
                     of the cell cycle upon detection of a defect in mitotic
                     spindle integrity"
     variation       503
                     /gene="MAD2L1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1801614"
     variation       751
                     /gene="MAD2L1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2908990"
     polyA_signal    1353..1358
                     /gene="MAD2L1"
     polyA_site      1372
                     /gene="MAD2L1"
BASE COUNT      427 a    221 c    290 g    452 t
ORIGIN      
        1 gggaagtgct gttggagccg ctgtggttgc tgtccgcgga gtggaagcgc gtgcttttgt
       61 ttgtgtccct ggccatggcg ctgcagctct cccgggagca gggaatcacc ctgcgcggga
      121 gcgccgaaat cgtggccgag ttcttctcat tcggcatcaa cagcatttta tatcagcgtg
      181 gcatatatcc atctgaaacc tttactcgag tgcagaaata cggactcacc ttgcttgtaa
      241 ctactgatct tgagctcata aaatacctaa ataatgtggt ggaacaactg aaagattggt
      301 tatacaagtg ttcagttcag aaactggttg tagttatctc aaatattgaa agtggtgagg
      361 tcctggaaag atggcagttt gatattgagt gtgacaagac tgcaaaagat gacagtgcac
      421 ccagagaaaa gtctcagaaa gctatccagg atgaaatccg ttcagtgatc agacagatca
      481 cagctacggt gacatttctg ccactgttgg aagtttcttg ttcatttgat ctgctgattt
      541 atacagacaa agatttggtt gtacctgaaa aatgggaaga gtcgggacca cagtttatta
      601 ccaattctga ggaagtccgc cttcgttcat ttactactac aatccacaaa gtaaatagca
      661 tggtggccta caaaattcct gtcaatgact gaggatgaca tgaggaaaat aatgtaattg
      721 taattttgaa atgtggtttt cctgaaatca ggtcatctat agttgatatg ttttatttca
      781 ttggttaatt tttacatgga gaaaaccaaa atgatactta ctgaactgtg tgtaattgtt
      841 cctttatttt tttggtacct atttgactta ccatggagtt aacatcatga atttattgca
      901 cattgttcaa aaggaaccag gaggtttttt tgtcaacatt gtgatgtata ttcctttgaa
      961 gatagtaact gtagatggaa aaacttgtgc tataaagcta gatgctttcc taaatcagat
     1021 gttttggtca agtagtttga ctcagtatag gtagggagat atttaagtat aaaatacaac
     1081 aaaggaagtc taaatattca gaatctttgt taaggtcctg aaagtaactc ataatctata
     1141 aacaatgaaa tattgctgta tagctccttt tgaccttcat ttcatgtata gttttcccta
     1201 ttgaatcagt ttccaattat ttgactttaa tttatgtaac ttgaacctat gaagcaatgg
     1261 atatttgtac tgtttaatgt tctgtgatac agaactctta aaaatgtttt ttcatgtgtt
     1321 ttataaaatc aagttttaag tgaaagtgag gaaataaagt taagtttgtt ttaaaaaaaa
     1381 aaaaaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_022763. Homo sapiens hypo...[gi:12232434] Links  


LOCUS       FLJ23399                2012 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens hypothetical protein FLJ23399 (FLJ23399), mRNA.
ACCESSION   NM_022763
VERSION     NM_022763.1  GI:12232434
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (sites)
  AUTHORS   Kawabata,A., Hikiji,T., Kobatake,N., Inagaki,H., Ikema,Y.,
            Okamoto,S., Okitani,R., Ota,T., Suzuki,Y., Obayashi,M., Nishi,T.,
            Shibahara,T., Tanaka,T., Nakamura,Y., Isogai,T. and Sugano,S.
  TITLE     NEDO human cDNA sequencing project
  JOURNAL   Unpublished (2000)
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AK027052.1.
FEATURES             Location/Qualifiers
     source          1..2012
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.31"
                     /clone="HEP18254"
                     /cell_line="HepG2"
                     /cell_type="hepatoma"
                     /clone_lib="HEP"
                     /note="cloning vector pME18SFL3"
     gene            1..2012
                     /gene="FLJ23399"
                     /note="DKFZp762K137"
                     /db_xref="LocusID:64778"
     CDS             283..1770
                     /gene="FLJ23399"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="hypothetical protein FLJ23399"
                     /protein_id="NP_073600.1"
                     /db_xref="GI:12232435"
                     /db_xref="LocusID:64778"
                     /translation="MTEPEDVASEVYHGPELECTVGNLLPGTVYRFRVRALNDGGYGP
                     YSDVSEITTAAGPPGQCKAPCISCTPDGCVLVGWESPDSSGADISEYRLEWGEDEESL
                     ELIYHGTDTRFEIRDLLPAAQYCCRLQAFNQAGAGPYSELVLCQTPASAPDPVSTLCV
                     LEEEPLDAYPDSPSACLVLNWEEPCNNGSEILAYTIDLGDTSITVGNTTMHVMKDLLP
                     ETTYRIRIQAINEIGAGPFSQFIKAKTRPLPPLPPRLECAAAGPQSLKLKWGDSNSKT
                     HAAEDIVYTLQLEDRNKRFISIYRGPSHTYKVQRLTEFTCYSFRIQAASEAGEGPFSE
                     TYTFSTTKSVPPTIKAPRVTQLEGNSCEILWETVPSMKGDPVNYILQVLVGRESEYKQ
                     VYKGEEATFQISGLQTNTDYRFRVCACRRCLDTSQELSGAFSPSAAFVLQRSEVMLTG
                     DMGSLDDPKMKSMMPTDEQFAAIIVLGFATLSILFAFILQYFLMK"
     misc_feature    289..420
                     /gene="FLJ23399"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     misc_feature    325..405
                     /gene="FLJ23399"
                     /note="FN3; Region: Fibronectin type 3 domain"
                     /db_xref="CDD:smart00060"
     misc_feature    454..687
                     /gene="FLJ23399"
                     /note="FN3; Region: Fibronectin type 3 domain"
                     /db_xref="CDD:smart00060"
     misc_feature    502..702
                     /gene="FLJ23399"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     misc_feature    793..975
                     /gene="FLJ23399"
                     /note="FN3; Region: Fibronectin type 3 domain"
                     /db_xref="CDD:smart00060"
     misc_feature    811..996
                     /gene="FLJ23399"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     misc_feature    1063..1281
                     /gene="FLJ23399"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     misc_feature    1315..1536
                     /gene="FLJ23399"
                     /note="FN3; Region: Fibronectin type 3 domain"
                     /db_xref="CDD:smart00060"
     misc_feature    1315..1536
                     /gene="FLJ23399"
                     /note="fn3; Region: Fibronectin type III domain"
                     /db_xref="CDD:pfam00041"
     variation       complement(1393)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2276806"
BASE COUNT      581 a    470 c    466 g    495 t
ORIGIN      
        1 tctgaagcga atcagtggga agtggcctac agtgggtcgg ctaccgaata caccttcacc
       61 cacttgaaac caggcacttt gtacaaactc cgagcatgct gcatcagtac cggcggacac
      121 agccagtgtt ctgaaagtct ccctgttcgc acactaagca ttgcaccagg tcaatgtcga
      181 ccaccgaggg ttttgggtag accaaagcac aaagaagtcc acttagagtg ggatgttcct
      241 gcatcggaaa gtggctgtga ggtctcagag tacagcgtgg agatgacgga gcccgaagac
      301 gtagcctcgg aagtgtacca tggcccagag ctggagtgca ccgtcggcaa cctgcttcct
      361 ggaaccgtgt atcgcttccg ggtgagggct ctgaatgatg gagggtatgg tccctattct
      421 gatgtctcag aaattaccac tgctgcaggg cctcctggac aatgcaaagc accttgtatt
      481 tcttgtacac ctgatggatg tgtcttagtg ggttgggaga gtcctgatag ttctggtgct
      541 gacatctcag agtacaggtt ggaatgggga gaagatgaag aatccttaga actcatttat
      601 catgggacag acacccgttt tgaaataaga gacctgttgc ctgctgcaca gtattgctgt
      661 agactacagg ccttcaatca agcaggggca gggccgtaca gtgaacttgt cctttgccag
      721 acgccagcgt ctgcccctga ccccgtctcc actctctgtg tcctggagga ggagcccctt
      781 gatgcctacc ctgattcacc ttctgcgtgc cttgtactga actgggaaga gccgtgcaat
      841 aacggatctg aaatccttgc ttacaccatt gatctaggag acactagcat taccgtgggc
      901 aacaccacca tgcatgttat gaaagatctc cttccagaaa ccacctaccg gatcagaatt
      961 caggctataa atgaaattgg agctggacca tttagtcagt tcattaaagc aaaaactcgg
     1021 ccattaccac ccttgcctcc taggctagaa tgtgctgctg ctggtcctca gagcctgaag
     1081 ctaaaatggg gagacagtaa ctccaagaca catgctgctg aggacattgt gtacacacta
     1141 cagctggagg acagaaacaa gaggtttatt tcaatctaca gaggacccag ccacacctac
     1201 aaggtccaga gactgacgga attcacatgc tactccttca gaatccaggc agcaagcgag
     1261 gctggagaag ggcccttctc agaaacctat accttcagca caaccaaaag tgtccccccc
     1321 accatcaaag cacctcgagt aacacagtta gaaggaaatt catgtgaaat tttatgggag
     1381 acggtaccat caatgaaagg tgaccctgtt aactacattc tgcaggtatt ggttggaaga
     1441 gaatctgagt acaaacaggt gtacaaggga gaagaagcca cattccaaat ctcaggcctc
     1501 cagaccaaca cagactacag gttccgcgta tgtgcgtgtc gtcgctgttt agacacctct
     1561 caggagctaa gcggagcctt cagcccctct gcggcttttg tattacaacg aagtgaggtc
     1621 atgcttacag gggacatggg gagcttagat gatcccaaaa tgaagagcat gatgcctact
     1681 gatgaacagt ttgcagccat cattgtgctt ggctttgcaa ctttgtccat tttatttgcc
     1741 tttatattac agtacttctt aatgaagtaa acccaacaaa actagaggta tgaattaatg
     1801 ctacacattt taatacacac atttattcag atactcccct ttttaaagcc cttttgtttt
     1861 ttgatttata tactctgttt tacagattta gctagaaaaa aaatgtcagt gttttggtgc
     1921 acctttttga aatgcaaaac taggaaaagg ttaaactgga tttttttttt taaaaaaaaa
     1981 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  




&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004287. Homo sapiens golg...[gi:16905521] Links  


LOCUS       GOSR2                    874 bp    mRNA    linear   PRI 13-NOV-2001
DEFINITION  Homo sapiens golgi SNAP receptor complex member 2 (GOSR2),
            transcript variant A, mRNA.
ACCESSION   NM_004287
VERSION     NM_004287.2  GI:16905521
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 874)
  AUTHORS   Lowe,S.L., Peter,F., Subramaniam,V.N., Wong,S.H. and Hong,W.
  TITLE     A SNARE involved in protein transport through the Golgi apparatus
  JOURNAL   Nature 389 (6653), 881-884 (1997)
  MEDLINE   98007979
   PUBMED   9349823
REFERENCE   2  (bases 1 to 874)
  AUTHORS   Bui,T.D., Levy,E.R., Subramaniam,V.N., Lowe,S.L. and Hong,W.
  TITLE     cDNA characterization and chromosomal mapping of human golgi SNARE
            GS27 and GS28 to chromosome 17
  JOURNAL   Genomics 57 (2), 285-288 (1999)
  MEDLINE   99216422
   PUBMED   10198168
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF007548.1 and BC009710.1.
            On Nov 13, 2001 this sequence version replaced gi:4758457.
            Summary: This gene encodes a trafficking membrane protein which
            transports proteins among the medial- and trans-Golgi compartments.
            Due to its chromosomal location and trafficking function, this gene
            may be involved in familial essential hypertension. Two transcript
            variants have been described.
            Transcript Variant: This variant (A) contains an alternate 3'
            region sequence, as compared to variant B. The protein encoded
            contains a unique C-terminus.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..874
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21"
     gene            1..874
                     /gene="GOSR2"
                     /note="GS27"
                     /db_xref="LocusID:9570"
                     /db_xref="MIM:604027"
     CDS             48..686
                     /gene="GOSR2"
                     /note="isoform A is encoded by transcript variant A; 27
                     kDa golgi SNARE protein; membrin"
                     /codon_start=1
                     /product="golgi SNAP receptor complex member 2 isoform A"
                     /protein_id="NP_004278.2"
                     /db_xref="GI:16905522"
                     /db_xref="LocusID:9570"
                     /db_xref="MIM:604027"
                     /db_xref="LocusID:9570"
                     /db_xref="MIM:604027"
                     /translation="MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQI
                     FSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQRE
                     ELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKG
                     TQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT"
     variation       247
                     /gene="GOSR2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3192968"
     variation       364
                     /gene="GOSR2"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1132308"
     polyA_site      835
                     /gene="GOSR2"
BASE COUNT      261 a    213 c    228 g    172 t
ORIGIN      
        1 gttccgagga agccagagcc ggagccgtgg cctgccgggc cggcgacatg gatcccctgt
       61 tccagcaaac gcacaagcag gtccacgaga tccagtcttg catgggacgc ctggagacgg
      121 cagacaagca gtctgtgcac atagtagaaa acgaaatcca agcaagcata gaccagatat
      181 tcagccgtct agaacgtctg gagattttgt ccagcaagga gccccctaac aaaaggcaaa
      241 atgccagact tcgggttgac cagttaaagt atgatgtcca gcacctgcag actgcgctca
      301 gaaacttcca gcatcggcgc catgcaaggg agcagcagga gagacagcga gaagagcttc
      361 tgtctcgaac cttcaccact aacgactctg acaccaccat accaatggac gaatcactgc
      421 agtttaactc ctccctccag aaagttcaca acggcatgga tgacctcatt ttagatgggc
      481 acaatatttt agatggactg aggacccaga gactgacctt gaaggggact cagaagaaga
      541 tccttgacat tgccaacatg ctgggcttgt ccaacacagt gatgcggctc atcgagaagc
      601 gggctttcca ggacaagtac tttatgatag gtgggatgct gctgacctgt gtggtcatgt
      661 tcctcgtggt gcagtacctg acatgagcca gccacgctca gtggctgaac agcattccca
      721 cagcctgcaa gtgtgtgtgt gtgtgaaaga gagagggggg cccagaggcc gccttttgaa
      781 atgtttgcct gtctgaactg tgaagacact tgggagtgat tgtggtctaa tttccaaaaa
      841 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  



&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003387. Homo sapiens Wisk...[gi:8400739] Links  


LOCUS       WASPIP                  1985 bp    mRNA    linear   PRI 18-DEC-2001
DEFINITION  Homo sapiens Wiskott-Aldrich syndrome protein interacting protein
            (WASPIP), mRNA.
ACCESSION   NM_003387
VERSION     NM_003387.2  GI:8400739
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1985)
  AUTHORS   Ramesh,N., Anton,I.M., Hartwig,J.H. and Geha,R.S.
  TITLE     WIP, a protein associated with wiskott-aldrich syndrome protein,
            induces actin polymerization and redistribution in lymphoid cells
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 94 (26), 14671-14676 (1997)
  MEDLINE   98070810
   PUBMED   9405671
REFERENCE   2  (bases 1 to 1985)
  AUTHORS   Ramesh,N., Anton,I.M., Martinez-Quiles,N. and Geha,R.S.
  TITLE     Waltzing with WASP
  JOURNAL   Trends Cell Biol. 9 (1), 15-19 (1999)
  MEDLINE   99187576
   PUBMED   10087612
REFERENCE   3  (bases 1 to 1985)
  AUTHORS   Stewart,D.M., Tian,L. and Nelson,D.L.
  TITLE     Mutations that cause the Wiskott-Aldrich syndrome impair the
            interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP
            interacting protein
  JOURNAL   J. Immunol. 162 (8), 5019-5024 (1999)
  MEDLINE   99218549
   PUBMED   10202051
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF031588.1 and AF106062.1.
            On Jun 9, 2000 this sequence version replaced gi:4507910.
            Summary:  The Wiskott-Aldrich syndrome (WAS) family of proteins
            share similar domain structure, and are involved in transduction of
            signals from receptors on the cell surface to the actin
            cytoskeleton.  The presence of a number of different motifs
            suggests that they are regulated by a number of different stimuli,
            and interact with multiple proteins.  Recent studies have
            demonstrated that these proteins, directly or indirectly, associate
            with the small GTPase, Cdc42, known to regulate formation of actin
            filaments, and the cytoskeletal organizing complex, Arp2/3.  The
            WASP-interacting protein (WIP) encoded by WASPIP, was isolated by
            virtue of its association with the WAS protein (WASP).  It binds to
            a region of WASP that is frequently mutated in Wiskott-Aldrich
            syndrome, and thus impairment of WASP-WIP interaction may
            contribute to the disease.  However, WIP is expressed in
            hematopoietic as well as nonhematopoietic tissues, indicating that
            it may interact with proteins other than WASP.  Overexpression of
            WASPIP increased F-actin content and induced actin containing
            structures, suggesting an important role for WIP in the
            organization of the actin cytoskeleton.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1985
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..1985
                     /gene="WASPIP"
                     /note="WIP; PRPL-2"
                     /db_xref="LocusID:7456"
                     /db_xref="MIM:602357"
     CDS             109..1620
                     /gene="WASPIP"
                     /codon_start=1
                     /product="WASP-interacting protein"
                     /protein_id="NP_003378.2"
                     /db_xref="GI:8400740"
                     /db_xref="LocusID:7456"
                     /db_xref="MIM:602357"
                     /translation="MPVPPPPAPPPPPTFALANTEKPTLNKTEQAGRNALLSDISKGK
                     KLKKTVTNDRSAPILDKPKGAGAGGGGGGFGGGGGFGGGGGGGGGGSFGGGGPPGLGG
                     LFQAGMPKLRSTANRDNDSGGSRPPLLPPGGRSTSAKPFSPPSGPGRFPVPSPGHRSG
                     PPEPQRNRMPPPRPDVGSKPDSIPPPVPSTPRPIQSSLHNRGSPPVPGGPRQPSPGPT
                     PPPFPGNRGTALGGGSIRQSPLSSSSPFSNRPPLPPTPSRALDDKPPPPPPPVGNRPS
                     IHREAVPPPPPQNNKPPVPSTPRPSAPHRPHLRPPPPSRPGPPPLPPSSSGNDETPRL
                     PQRNLSLSSSTPPLPSPGRSGPLPPPPSERPPPPVRDPPGRSGPLPPPPPVSRNGSTS
                     RALPATPQLPSRSGVDSPRSGPRPPLPPDRPSAGAPPPPPPSTSIRNGFQDSPCEDEW
                     ESRFYFHPISDLPPPEPYVQTTKSYPSKLARNESRSGSNRRERGAPPLPPIPR"
     polyA_signal    1964..1969
                     /gene="WASPIP"
BASE COUNT      444 a    651 c    493 g    397 t
ORIGIN      
        1 cccgggcagg ttagaagaca gcaggggaac tcgagaagtt ggttgttttc agcagattaa
       61 aacaatacag atttatcagc aagactgttc aacgcataac tgcccaagat gcctgtccct
      121 ccccctccag cacccccgcc gcccccgacg tttgcactgg ccaatacaga gaagcctacc
      181 ttgaataaga cagagcaggc tgggagaaat gctctccttt ctgatatcag caaagggaag
      241 aaactaaaga agacggtcac caatgacaga agtgcaccaa tactggacaa acctaaagga
      301 gctggtgctg gaggcggtgg tggtggcttt ggtggaggcg gcggatttgg cggaggaggt
      361 ggtggcggag gcggtggaag ttttggaggg ggcggacctc caggtctggg aggattgttc
      421 caggctggaa tgccgaagct gagatccacg gccaacaggg ataatgattc tggaggaagc
      481 cgaccaccat tgttgccacc gggaggaaga tccacatctg cgaaaccctt ttcaccccca
      541 agtggcccag ggaggtttcc tgtgccttct ccaggccaca gaagtggtcc cccagagcct
      601 cagaggaacc gaatgccgcc cccaaggccc gacgtgggct caaagcctga tagcattcct
      661 cctccagtac ctagtactcc aagacccatt caatcaagtc tgcacaaccg ggggtcccca
      721 ccagtgcccg gaggccccag gcagcccagc cccgggccca ctcctccccc tttccctgga
      781 aaccgcggca ctgctttggg aggaggctca atacgtcagt cccccttgag ctcctcctcg
      841 cccttctcca accggcctcc cctgccgcct acccccagca gggccttgga tgacaaaccc
      901 cctccaccac ctcctccagt gggcaacagg ccctccatcc acagggaagc ggttccccct
      961 cctcctcctc agaacaacaa gcctccagtg ccttccactc cgcggccttc ggctcctcac
     1021 aggccccacc tccgcccgcc acctcccagc aggcccgggc cgcctcctct gcctccaagt
     1081 tccagcggca atgacgaaac cccaagactc ccacagcgga atctgtccct cagttcgtcc
     1141 acgcccccgt taccttcgcc aggacgttca ggtcctcttc ctcccccgcc cagtgagaga
     1201 cccccacctc cagtgaggga cccgccaggc cgatcaggcc ccctcccacc acctcctcca
     1261 gtaagcagaa acggcagcac atctcgggcc ctgcctgcta cccctcagtt gccatccagg
     1321 agtggagtag acagtcccag gagtggaccc aggcctcccc ttcctcctga taggcccagt
     1381 gctggggcac ctcccccacc tccaccatca acatctatta gaaatggctt ccaagactct
     1441 ccatgtgaag atgagtggga aagcagattc tacttccatc cgatttccga tttgccacct
     1501 ccagagccat atgtacaaac gaccaaaagt tatcccagca aactggcaag aaacgaaagc
     1561 cggagtggat ccaaccgaag agaaaggggt gctccaccac tccctcccat cccgaggtga
     1621 tctttgcctg ctcgtctcta cccaagctca agagctgctt ctgttgctat ctaagaactg
     1681 cataccctcc tcctgcttct tcccttgtgc ctcatgtatg ggcaggagga aaggtgggag
     1741 ggggagtggg aatatgcgtg tgtgggtggg aatcggtaag aaatgcacct agcttttcat
     1801 attgtgttta ttctccaggc tattgcttgc ttcagctgca gcctgcctgt gctggctgct
     1861 ggggtcgata ggcttttgtc gtaataggca gagatgactt gcatcccagc tttccaccaa
     1921 ccaaattcaa acattcactg cttatttgtt acagactgta attattaaag tccctgagag
     1981 ctgtt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  



&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005570. Homo sapiens lect...[gi:10862689] Links  


LOCUS       LMAN1                   2764 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.
ACCESSION   NM_005570
VERSION     NM_005570.2  GI:10862689
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2764)
  AUTHORS   Schindler,R., Itin,C., Zerial,M., Lottspeich,F. and Hauri,H.P.
  TITLE     ERGIC-53, a membrane protein of the ER-Golgi intermediate
            compartment, carries an ER retention motif
  JOURNAL   Eur. J. Cell Biol. 61 (1), 1-9 (1993)
  MEDLINE   94039195
   PUBMED   8223692
REFERENCE   2  (bases 1 to 2764)
  AUTHORS   Fiedler,K. and Simons,K.
  TITLE     A putative novel class of animal lectins in the secretory pathway
            homologous to leguminous lectins
  JOURNAL   Cell 77 (5), 625-626 (1994)
  MEDLINE   94265253
   PUBMED   8205612
REFERENCE   3  (bases 1 to 2764)
  AUTHORS   Arar,C., Carpentier,V., Le Caer,J.P., Monsigny,M., Legrand,A. and
            Roche,A.C.
  TITLE     ERGIC-53, a membrane protein of the endoplasmic reticulum-Golgi
            intermediate compartment, is identical to MR60, an intracellular
            mannose-specific lectin of myelomonocytic cells
  JOURNAL   J. Biol. Chem. 270 (8), 3551-3553 (1995)
  MEDLINE   95181303
   PUBMED   7876089
REFERENCE   4  (bases 1 to 2764)
  AUTHORS   Arar,C., Mignon,C., Mattei,M., Monsigny,M., Roche,A. and Legrand,A.
  TITLE     Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22
            by in situ hybridization
  JOURNAL   Mamm. Genome 7 (10), 791-792 (1996)
  MEDLINE   97007987
   PUBMED   8854877
REFERENCE   5  (bases 1 to 2764)
  AUTHORS   Neerman-Arbez,M., Antonarakis,S.E., Blouin,J.L., Zeinali,S.,
            Akhtari,M., Afshar,Y. and Tuddenham,E.G.
  TITLE     The locus for combined factor V-factor VIII deficiency (F5F8D) maps
            to 18q21, between D18S849 and D18S1103
  JOURNAL   Am. J. Hum. Genet. 61 (1), 143-150 (1997)
  MEDLINE   97388762
   PUBMED   9245995
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U09716.1 and X71661.1.
            On Oct 17, 2000 this sequence version replaced gi:5031872.
            Summary: The protein encoded by this gene is a type I integral
            membrane protein localized in the intermediate region between the
            endoplasmic reticulum and the Golgi, presumably recycling between
            the two compartments. The protein is a mannose-specific lectin and
            is a member of a novel family of plant lectin homologs in the
            secretory pathway of animal cells. Mutations in the gene are
            associated with a coagulation defect. Using positional cloning, the
            gene was identified as the disease gene leading to combined factor
            V-factor VIII deficiency, a rare, autosomal recessive disorder in
            which both coagulation factors V and VIII are diminished.
FEATURES             Location/Qualifiers
     source          1..2764
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.3-q22"
     gene            1..2764
                     /gene="LMAN1"
                     /note="ERGIC53; F5F8D; MCFD1; ERGIC-53; MR60; gp58"
                     /db_xref="LocusID:3998"
                     /db_xref="MIM:601567"
     CDS             21..1553
                     /gene="LMAN1"
                     /note="intracellular mannose specific lectin; endoplasmic
                     reticulum-golgi intermediate compartment protein 53"
                     /codon_start=1
                     /product="lectin, mannose-binding, 1 precursor"
                     /protein_id="NP_005561.1"
                     /db_xref="GI:5031873"
                     /db_xref="LocusID:3998"
                     /db_xref="MIM:601567"
                     /translation="MAGSRQRGLRARVRPLFCALLLSLGRFVRGDGVGGDPAVALPHR
                     RFEYKYSFKGPHLVQSDGTVPFWAHAGNAIPSSDQIRVAPSLKSQRGSVWTKTKAAFE
                     NWEVEVTFRVTGRGRIGADGLAIWYAENQGLEGPVFGSADLWNGVGIFFDSFDNDGKK
                     NNPAIVIIGNNGQIHYDHQNDGASQALASCQRDFRNKPYPVRAKITYYQNTLTVMINN
                     GFTPDKNDYEFCAKVENMIIPAQGHFGISAATGGLADDHDVLSFLTFQLTEPGKEPPT
                     PDKEISEKEKEKYQEEFEHFQQELDKKKEEFQKGHPDLQGQPAEEIFESVGDRELRQV
                     FEGQNRIHLEIKQLNRQLDMILDEQRRYVSSLTEEISKRGAGMPGQHGQITQQELDTV
                     VKTQHEILRQVNEMKNSMSETVRLVSGMQHPGSAGGVYETTQHFIDIKEHLHIVKRDI
                     DNLVQRNMPSNEKPKCPELPPFPSCLSTVHFIIFVVVQTVLFIGYIMYRSQQEAAAKK
                     FF"
     sig_peptide     21..110
                     /gene="LMAN1"
     mat_peptide     111..1550
                     /gene="LMAN1"
                     /product="lectin, mannose-binding, 1"
     variation       61
                     /gene="LMAN1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043302"
     variation       complement(1084)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3737392"
     variation       1574
                     /gene="LMAN1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2298713"
     variation       2166
                     /gene="LMAN1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043319"
     variation       2310
                     /gene="LMAN1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1043320"
     variation       2687
                     /gene="LMAN1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043325"
BASE COUNT      850 a    515 c    594 g    805 t
ORIGIN      
        1 ctctaaagct tagagccaag atggcgggat ccaggcaaag gggtctccgg gccagagttc
       61 ggccgctgtt ctgcgccttg ctgctgtcac tcggtcgctt cgtccggggc gacggcgtgg
      121 gaggagaccc cgcggtcgcg ttgccacatc gccgtttcga gtacaaatac agcttcaagg
      181 ggccgcacct ggtgcagagc gacgggaccg tgcccttctg ggcccacgcg gggaatgcta
      241 ttccaagttc agatcaaatt cgagtagcac catctttaaa aagccaaaga ggctcagtgt
      301 ggacaaagac aaaagcggcc tttgagaact gggaagttga ggtgacattt cgagtgactg
      361 gaagaggtcg aattggagct gatggcctag caatttggta tgcagaaaat caaggcttgg
      421 agggccctgt gtttggatca gctgatctgt ggaatggtgt tggaatattt tttgattctt
      481 ttgacaatga tggaaagaaa aataatcctg ctatagtaat tataggcaac aatggacaaa
      541 tccattatga ccatcaaaat gacggggcta gtcaagcttt ggcaagttgc cagagggact
      601 tccgcaacaa accctatcct gtccgagcaa agattaccta ttaccagaac acactgacag
      661 taatgatcaa taatggcttt acaccagata aaaatgatta tgaattttgt gccaaagtgg
      721 aaaatatgat tatccctgca caagggcatt ttggaatatc tgctgcaact ggaggtcttg
      781 cagatgacca tgatgtcctt tcttttctga ctttccagtt gactgaacct ggaaaagagc
      841 cgcccacacc agataaagaa atttcggaaa aggaaaaaga aaagtatcag gaggaatttg
      901 agcactttca acaagaattg gataaaaaaa aagaggaatt ccagaagggc caccccgacc
      961 tccaagggca gcctgcggag gaaatatttg agagtgtagg agatcgagag ctaagacaag
     1021 tctttgaagg acagaatcgt attcatcttg aaatcaagca gctgaaccgg cagttagata
     1081 tgattcttga tgaacagaga agatatgtct cttccttaac agaggaaatc tctaaaagag
     1141 gagcaggaat gcctgggcag catgggcaga ttactcaaca agaactggat actgttgtga
     1201 aaactcagca tgagattctg agacaagtaa atgaaatgaa aaattccatg agtgaaaccg
     1261 tcagactggt cagtggaatg cagcaccctg gctctgctgg aggcgtctat gagacaacac
     1321 agcacttcat tgacatcaaa gagcacctgc acatagtaaa gagggacata gataacttag
     1381 tgcagcgaaa tatgccatca aatgaaaagc cgaaatgccc agaactacca ccatttccat
     1441 catgtttgtc tacggtccac ttcattatat ttgttgtggt gcaaactgta ttattcattg
     1501 gttatatcat gtataggtct cagcaagaag cagctgccaa aaaattcttt tgactaccat
     1561 tttcctgtgt acttcatcta tttgtgtaca aaatgatgtc gttttgaggg aatttaagta
     1621 tttaaattgc ttcatagtct aaattattaa ttttcttaat aaaataactg tttaaacatt
     1681 gatttgcagt taagaataaa ccttaaagca aagacaacca cattttaatt tgttcacagt
     1741 atgtaaatct gtctaaattt cagtgaattt ctggtcagta tgatgcagcc tctgagcaga
     1801 tattgaccag taagagggta aataaagtgg gggcaacccc tggatatgaa tgttaccccc
     1861 taagtctcca atattgcagg tttccctgta taacgtaaac acacttgccc tcatgcctcc
     1921 cagaatatga ggtctaatta agaagtccca tcaggtttat tttgtaacca aagtcttttt
     1981 tagaggtcag acttcctaat caaaggcctg ggcctgcagt cctttcatct taatgcaact
     2041 tcctttgaaa tcaaagaata ttttgtctga gagctttaag gatctggtaa tagacttcaa
     2101 aatgttaagt gaaatttttt ttcctctatt tatcaatgat atatttcact tttaaaggaa
     2161 attttggagg aaaatatagc tgctttttgc ctaaaaaacc ttgtgggtgg aaatattcct
     2221 ctgagaatgg cttttatagg tattttgcct ggtaatgtat tcattcatga ttgcccatat
     2281 tcttgaatgt ttcttcattc caatggggtc aggtcaatat tatgaaaata atttttatat
     2341 ttatatttgt aactaagaat ttatttctcc ctttactaca cgatgtaaat tcacgtcaaa
     2401 ttcgatgatc tgaggattta aattcacaaa acctgccact acattctggt ttacattagt
     2461 tacttcatgc tggctggggt tagtgaccat ttgcatactc ttttaaatca aggaggctgt
     2521 agtagaggca gttttaagat tcttgaaggc aaaatttgaa aaacagtgaa tacttctaat
     2581 tgtttccttt tagtgccaga actaagacat tgtgaagcac ttgttagtaa acttaacctt
     2641 gaaatgtcag actggaagga gtttttatgt ctttgtgcat acttctgggt attacagaaa
     2701 cagtctgtaa ataacatttt aagatgcaaa tttaattctg ttcacagctg atttatactg
     2761 attt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  




&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004587. Homo sapiens ribo...[gi:4759055] Links  


LOCUS       RRBP1                   3106 bp    mRNA    linear   PRI 07-SEP-2002
DEFINITION  Homo sapiens ribosome binding protein 1 homolog 180kDa (dog)
            (RRBP1), mRNA.
ACCESSION   NM_004587
VERSION     NM_004587.1  GI:4759055
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3106)
  AUTHORS   Basson,C.T., MacRae,C.A., Schoenberg-Fejzo,M., Morton,C.C.,
            Spinner,N.B., Genin,A., Krug,E., Seidman,J.G. and Seidman,C.E.
  TITLE     Identification, characterization, and chromosomal localization of
            the human homolog (hES) of ES/130
  JOURNAL   Genomics 35 (3), 628-631 (1996)
  MEDLINE   97001174
   PUBMED   8812507
REFERENCE   2  (bases 1 to 3106)
  AUTHORS   Langley,R., Leung,E., Morris,C., Berg,R., McDonald,M., Weaver,A.,
            Parry,D., Ni,J., Su,J., Gentz,R., Spurr,N. and Krissansen,G.W.
  TITLE     Identification of multiple forms of 180-kDa ribosome receptor in
            human cells
  JOURNAL   DNA Cell Biol. 17 (5), 449-460 (1998)
  MEDLINE   98290552
   PUBMED   9628588
REFERENCE   3  (bases 1 to 3106)
  AUTHORS   Nagase,T., Kikuno,R., Ishikawa,K.I., Hirosawa,M. and Ohara,O.
  TITLE     Prediction of the coding sequences of unidentified human genes.
            XVI. The complete sequences of 150 new cDNA clones from brain which
            code for large proteins in vitro
  JOURNAL   DNA Res. 7 (1), 65-73 (2000)
  MEDLINE   20181126
   PUBMED   10718198
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF006751.1.
            Summary: Analysis of cDNA clones indicates that ribosome binding
            protein 1 may exist in different forms due to removal of tandem
            repeats, or partial intraexonic splicing of RRBP1. The form
            presented here is lacking the canine p180 ribosome-binding domain,
            NQGKKAEGAQ, which is tandemly repeated close to the N-terminus in
            other forms that haven't been fully characterized. RRBP1 has been
            excluded as a candidate gene in the cause of Alagille syndrome.
FEATURES             Location/Qualifiers
     source          1..3106
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12"
     gene            1..3106
                     /gene="RRBP1"
                     /note="ES130; ES/130"
                     /db_xref="LocusID:6238"
                     /db_xref="MIM:601418"
     CDS             71..3004
                     /gene="RRBP1"
                     /note="Ribosome binding protein-1; hES; ribosome binding
                     protein 1 homolog 180kD (dog)"
                     /codon_start=1
                     /product="ribosome binding protein 1"
                     /protein_id="NP_004578.1"
                     /db_xref="GI:4759056"
                     /db_xref="LocusID:6238"
                     /db_xref="MIM:601418"
                     /translation="MDIYDTQTLGVVVFGGFMVVSAIGIFLVSTFSMKETSYEEALAN
                     QRKEMAKTHHQKVEKKKKEKTVEKKGKTKKKEEKPNGKIPDHDPAPNVTVLLREPVRA
                     PAVAVAPTPVQPPIIVAPVATVPAMPQEKLASSPKDKKKKEKKVAKVEPAVSSVVNSI
                     QVLTSKAAILETAPKEGRNTDVAQSPEAPKQEAPAKKKSGSKKKGPPDADGPLYLPYK
                     TLVSTVGSMVFNEGEAQRLIEILSEKAGIIQDTWHKATQKGDPVAILKRQLEEKEKLL
                     ATEQEDAAVAKSKLRELNKEMAAEKAKAAAGEAKVKKQLVAREQEITAVQARMQASYR
                     EHVKEVQQLQGKIRTLQEQLENGPNTQLARLQQENSILRDALNQATSQVESKQNAELA
                     KLRQELSKVSKELVEKSEAVRQDEQQRKALEAKAAAFEKQVLQLQASHRESEEALQKR
                     LDEVSRELCHTQSSHASLRADAEKAQEQQQQMAELHSKLQSSEAEVRSKCEELSGLHG
                     QLQEARAENSQLTERIRSIEALLEAGQARDAQDVQASQAEADQQQTRLKELESQVSGL
                     EKEAIELREAVEQQKVKNNDLREKNWKAMEALATAEQACKEKLHSLTQAKEESEKQLC
                     LIEAQTMEALLALLPELSVLAQQNYTEWLQDLKEKGPTLLKHPPAPAEPSSDLASKLR
                     EAEETQSTLQAECDQYRSILAETEGMLRDLQKSVEEEEQVWRAKVGAAEEELQKSRVT
                     VKHLEEIVEKLKGELESSDQVREHTSHLEAELEKHMAAASAECQNYAKEVAGLRQLLL
                     ESQSQLDAAKSEAQKQSDELALVRQQLSEMKSHVEDGDIAGAPASSPEAPPAEQDPVQ
                     LKTQLEWTEAILEDEQTQRQKLMAEFEEAQTSACRLQEELEKLRTAGPLESSETEEAS
                     QLKERLEKEKKLTSDLGRAATRLQELLKTTQEQLAREKDTVKKLQEQLEKAEDGSSSK
                     EGTSV"
     variation       1615
                     /gene="RRBP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1051954"
     variation       1678
                     /gene="RRBP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229888"
     variation       1940
                     /gene="RRBP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229886"
     variation       2249
                     /gene="RRBP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:13971"
     variation       2357
                     /gene="RRBP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229889"
     variation       2367
                     /gene="RRBP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:11960"
     variation       2461
                     /gene="RRBP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229891"
     variation       2533
                     /gene="RRBP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3192487"
     variation       2533
                     /gene="RRBP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:8303"
     variation       2706
                     /gene="RRBP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229893"
     variation       2724
                     /gene="RRBP1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1801964"
     variation       2742
                     /gene="RRBP1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:1132274"
     variation       2742
                     /gene="RRBP1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3192913"
     variation       2877
                     /gene="RRBP1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2229887"
     variation       2971
                     /gene="RRBP1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1801965"
     variation       3030
                     /gene="RRBP1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:8803"
     polyA_signal    3068..3073
                     /gene="RRBP1"
BASE COUNT      859 a    826 c    985 g    436 t
ORIGIN      
        1 ggcggcggct cctgccctct cgctttccct ctcgcgtctc tggctgcagg tgaaaggaaa
       61 gcaagccagg atggatattt acgacactca aaccttgggg gttgtggtct ttggaggatt
      121 catggttgtt tctgccattg gcatcttcct ggtgtcgact ttctccatga aggaaacgtc
      181 atatgaagaa gccctagcca accagcgcaa ggagatggcg aaaactcacc accagaaagt
      241 cgagaagaaa aagaaggaga aaacagtgga gaagaaagga aagaccaaga aaaaggaaga
      301 gaaacctaat gggaagatac ctgatcatga tccagccccc aatgtgactg tcctccttcg
      361 agaaccagtg cgggctcctg ctgtggctgt ggctccaacc ccagtgcagc cccccattat
      421 cgttgctcct gtcgccacag ttccagccat gccccaggag aagctggcct cctcccccaa
      481 ggacaaaaag aagaaggaga aaaaagtggc aaaagtggaa ccagctgtca gctctgtagt
      541 gaattccatc caggttctca cttcgaaggc tgccatcttg gaaactgctc ccaaggaggg
      601 cagaaataca gatgtggccc agagcccaga ggcaccaaag caagaggctc ctgccaagaa
      661 gaagtctggt tcaaagaaaa aagggccccc agatgccgac ggccctctct acctccccta
      721 caagacgctg gtctccacgg ttgggagcat ggtgttcaac gagggcgagg cccagcggct
      781 catcgagatc ctgtctgaga aggctggcat cattcaggac acctggcaca aggccactca
      841 gaagggtgac cctgtggcga ttctgaaacg ccagctggaa gagaaggaaa aactgctggc
      901 cacagaacag gaagatgcgg ctgtcgccaa gagcaaactg agggagctca acaaggagat
      961 ggcagcagaa aaggccaaag cagcagccgg ggaggccaaa gtgaaaaagc agctggtggc
     1021 ccgggagcag gagatcacgg ctgtgcaggc acgcatgcag gccagctacc gggagcacgt
     1081 gaaggaggtg cagcagctgc agggcaagat ccggactctt caggagcagc tggagaatgg
     1141 ccccaacacg cagctggccc gcctgcagca ggagaactcc atcctgcggg atgccttgaa
     1201 ccaggccacg agccaggtgg agagcaagca gaacgcagag ctggccaagc ttcggcagga
     1261 gctcagcaag gtcagcaaag agctggtgga gaagtcagag gctgtgcggc aagatgagca
     1321 gcagcggaaa gctctggaag ccaaggcagc tgccttcgag aagcaggtcc tgcagctgca
     1381 ggcgtcccac agggagagtg aggaggccct gcagaagcgc ctggacgagg tcagccggga
     1441 gctgtgccac acgcagagca gccacgccag cctccgggcg gatgccgaga aggcccagga
     1501 gcaacagcag cagatggccg agctgcacag caagttacag tcctccgagg cggaggtgcg
     1561 cagcaaatgc gaggagctga gtggcctcca cgggcagctc caggaggcca gggcagagaa
     1621 ctcccagctc acagagagaa tccgttccat tgaggccctg ctggaggcgg gccaggcgcg
     1681 ggatgcccag gacgtccagg ccagccaggc ggaggctgac cagcagcaga ctcgcctcaa
     1741 ggagctggag tcccaggtgt cgggtctgga gaaggaggcc atcgagctca gggaggccgt
     1801 cgagcagcag aaagtgaaga acaatgacct ccgggagaag aactggaagg ccatggaggc
     1861 actggccacg gccgagcagg cctgcaagga gaagctgcac tccctgaccc aggccaagga
     1921 ggaatcggag aagcagctct gtctgattga ggcgcagacc atggaggccc tgctggctct
     1981 gctcccagaa ctctctgtct tggcacaaca gaattacacc gagtggctgc aggatctcaa
     2041 agagaaaggc cccacgctgc tgaagcaccc gccagctccc gcggagccct cctcggacct
     2101 ggcctccaag ttgagggagg ccgaggagac gcagagcaca ctgcaggccg agtgtgacca
     2161 gtaccgcagc atcctggcgg agacggaggg catgctcaga gacctgcaga agagcgtgga
     2221 ggaggaggag caggtgtgga gggccaaggt gggcgccgca gaggaggagc tccagaagtc
     2281 ccgggtcaca gtgaagcatc tcgaagagat tgtagagaag ctaaaaggag aacttgaaag
     2341 ttcggaccag gtgagggagc acacgtcgca tttggaggca gagctggaaa agcacatggc
     2401 ggccgccagc gccgagtgcc agaactacgc caaggaggtg gcagggctga ggcaacttct
     2461 cctagaatct caatctcagc tcgatgccgc caagagcgaa gcccagaaac agagcgatga
     2521 gcttgccctg gtcaggcagc agttgagtga aatgaagagc cacgtagagg atggtgacat
     2581 agctggggcc ccagcttcct ccccagaggc gcccccagcc gagcaggacc ccgttcagct
     2641 gaagacgcag ctggagtgga cagaagccat cctggaggat gagcagacac agcggcagaa
     2701 gctcatggcc gagtttgagg aggctcagac ctcggcatgt cggttacaag aagaattgga
     2761 gaagctccgc acagccggcc ccctagagtc ttcagaaaca gaggaggcct cacagctgaa
     2821 ggagagacta gaaaaagaga agaagttaac aagtgacctg gggcgcgccg ccacgagact
     2881 gcaggagctt ctgaagacga cccaggagca gctggcaagg gagaaggaca cggtgaagaa
     2941 gctgcaggaa cagctggaaa aggcagagga cggcagcagc tcaaaggagg gcacctctgt
     3001 ctgagtttcc tctttggaaa aagaagttac tgttcaactt accaaaatgc cttacacatt
     3061 ccttacaaat aaaccaacca acctacaaaa aaaaaaaaaa aaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_002826. Homo sapiens quie...[gi:13325074] Links  


LOCUS       QSCN6                   3314 bp    mRNA    linear   PRI 13-MAR-2001
DEFINITION  Homo sapiens quiescin Q6 (QSCN6), mRNA.
ACCESSION   NM_002826
VERSION     NM_002826.2  GI:13325074
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3314)
  AUTHORS   Coppock,D.L., Kopman,C., Scandalis,S. and Gilleran,S.
  TITLE     Preferential gene expression in quiescent human lung fibroblasts
  JOURNAL   Cell Growth Differ. 4 (6), 483-493 (1993)
  MEDLINE   93385053
   PUBMED   8396966
REFERENCE   2  (bases 1 to 3314)
  AUTHORS   Coppock,D.L., Cina-Poppe,D. and Gilleran,S.
  TITLE     The quiescin Q6 gene (QSCN6) is a fusion of two ancient gene
            families: thioredoxin and ERV1
  JOURNAL   Genomics 54 (3), 460-468 (1998)
  MEDLINE   99097346
   PUBMED   9878249
REFERENCE   3  (bases 1 to 3314)
  AUTHORS   Coppock,D.L., Cina-Poppe,D.A. and Gilleran,S.
  TITLE     Quiescin Q6: a new member of an ancient gene family with a
            potential role in human cancer
  JOURNAL   (in) PROC. AMER. ASSOC. CAN. RES. 39: 471;
            (1998)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U97276.2.
            On Mar 14, 2001 this sequence version replaced gi:4506360.
            Summary: This gene encodes a protein that contains domains of
            thioredoxin and ERV1, members of two long-standing gene families.
            The gene expression is induced as fibroblasts begin to exit the
            proliferative cycle and enter quiescence, suggesting that this gene
            plays an important role in growth regulation.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..3314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24"
     gene            1..3314
                     /gene="QSCN6"
                     /note="Q6"
                     /db_xref="LocusID:5768"
                     /db_xref="MIM:603120"
     CDS             76..2319
                     /gene="QSCN6"
                     /note="thioredoxin superfamily member"
                     /codon_start=1
                     /product="quiescin Q6"
                     /protein_id="NP_002817.2"
                     /db_xref="GI:13325075"
                     /db_xref="LocusID:5768"
                     /db_xref="MIM:603120"
                     /translation="MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTL
                     LQADTVRGAVLGSRSAWAVEFFASWCGHCIAFAPTWKALAEDVKAWRPALYLAALDCA
                     EETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPVAGADVQTLRERLIDALESHHDT
                     WPPACPPLEPAKLEEIDGFFARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRV
                     LNTEANVVRKFGVTDFPSCYLLFRNGSVSRVPVLMESRSFYTAYLQRLSGLTREAAQT
                     TVAPTTANKIAPTVWKLADRSKIYMADLESALHYILRIEVGRFPVLEGQRLVALKKFV
                     AVLAKYFPGRPLVQNFLHSVNEWLKRQKRNKIPYSFFKTALDDRKEGAVLAKKVNWIG
                     CQGSEPHFRGFPCSLWVLFHFLTVQAARQNVDHSQEAAKAKEVLPAIRGYVHYFFGCR
                     DCASHFEQMAAASMHRVGSPNAAVLWLWSSHNRVNARLAGAPSEDPQFPKVQWPPREL
                     CSACHNERLDVPVWDVEATLNFLKAHFSPSNIILDFPAAGSAARRDVQNVAAAPELAM
                     GALELESRNSTLDPGKPEMMKSPTNTTPHVPAEGPEASRPPKLHPGLRAAPGQEPPEH
                     MAELQRNEQEQPLGQWHLSKRDTGAALLAESRAEKNRLWGPLEVRRVGRSSKQLVDIP
                     EGQLEARAGRGRGQWLQVLGGGFSYLDISLCVGLYSLSFMGLLAMYTYFQAKIRALKG
                     HAGHPAA"
     misc_feature    178..447
                     /gene="QSCN6"
                     /note="Region: thioredoxin motif"
     misc_feature    262..546
                     /gene="QSCN6"
                     /note="thiored; Region: Thioredoxin"
                     /db_xref="CDD:pfam00085"
     misc_feature    1216..1326
                     /gene="QSCN6"
                     /note="Region: ERV1 homology"
     misc_feature    1378..1452
                     /gene="QSCN6"
                     /note="Region: ERV1 homology"
     misc_feature    1471..1611
                     /gene="QSCN6"
                     /note="Region: ERV1 homology"
     variation       1305
                     /gene="QSCN6"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1050154"
     variation       1406
                     /gene="QSCN6"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:12371"
     variation       1406
                     /gene="QSCN6"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3190456"
     variation       complement(1846)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3738115"
     variation       complement(2094)
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:3738114"
     variation       3088
                     /gene="QSCN6"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1050127"
     variation       3160
                     /gene="QSCN6"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1050130"
     variation       complement(3197)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1199"
     variation       3198
                     /gene="QSCN6"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1050135"
     variation       3213
                     /gene="QSCN6"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1050138"
     variation       3220
                     /gene="QSCN6"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1050140"
     variation       complement(3237)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3738113"
     variation       3237
                     /gene="QSCN6"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:7597"
     variation       3263
                     /gene="QSCN6"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1050144"
     polyA_signal    3293..3298
                     /gene="QSCN6"
BASE COUNT      609 a    987 c   1022 g    696 t
ORIGIN      
        1 ggaggcaggc ggtgccgcgg cgccgggacc cgactcatcc ggtgcttgcg tgtggtggtg
       61 agcgcagcgc cgaggatgag gaggtgcaac agcggctccg ggccgccgcc gtcgctgctg
      121 ctgctgctgc tgtggctgct cgcggttccc ggcgctaacg cggccccgcg gtcggcgctc
      181 tattcgcctt ccgacccgct gacgctgctg caggcggaca cggtgcgcgg cgcggtgctg
      241 ggctcccgca gcgcctgggc cgtggagttc ttcgcctcct ggtgcggcca ctgcatcgcc
      301 ttcgccccga cgtggaaggc gctggccgaa gacgtcaaag cctggaggcc ggccctgtat
      361 ctcgccgccc tggactgtgc tgaggagacc aacagtgcag tctgcagaga cttcaacatc
      421 cctggcttcc cgactgtgag gttcttcaag gcctttacca agaacggctc gggagcagta
      481 tttccagtgg ctggtgctga cgtgcagacg ctgcgggaga ggctcattga cgccctggag
      541 tcccatcatg acacgtggcc cccagcctgt cccccactgg agcctgccaa gctggaggag
      601 attgatggat tctttgcgag aaataacgaa gagtacctgg ctctgatctt tgaaaaggga
      661 ggctcctacc tgggtagaga ggtggctctg gacctgtccc agcacaaagg cgtggcggtg
      721 cgcagggtgc tgaacacaga ggccaatgtg gtgagaaagt ttggtgtcac cgacttcccc
      781 tcttgctacc tgctgttccg gaatggctct gtctcccgag tccccgtgct catggaatcc
      841 aggtccttct ataccgctta cctgcagaga ctctctgggc tcaccaggga ggctgcccag
      901 accacagttg caccaaccac tgctaacaag atagctccca ctgtttggaa attggcagat
      961 cgctccaaga tctacatggc tgacctggaa tctgcactgc actacatcct gcggatagaa
     1021 gtgggcaggt tcccggtcct ggaagggcag cgcctggtgg ccctgaaaaa gtttgtggca
     1081 gtgctggcca agtatttccc tggccggccc ttagtccaga acttcctgca ctccgtgaat
     1141 gaatggctca agaggcagaa gagaaataaa attccctaca gtttctttaa aactgccctg
     1201 gacgacagga aagagggtgc cgttcttgcc aagaaggtga actggattgg ctgccagggg
     1261 agtgagccgc atttccgggg ctttccctgc tccctgtggg tcctcttcca cttcttgact
     1321 gtgcaggcag ctcggcaaaa tgtagaccac tcacaggaag cagccaaggc caaggaggtc
     1381 ctcccagcca tccgaggcta cgtgcactac ttcttcggct gccgagactg cgctagccac
     1441 ttcgagcaga tggctgctgc ctccatgcac cgggtgggga gtcccaacgc cgctgtcctc
     1501 tggctctggt ctagccacaa cagggtcaat gctcgccttg caggtgcccc cagcgaggac
     1561 ccccagttcc ccaaggtgca gtggccaccc cgtgaacttt gttctgcctg ccacaatgaa
     1621 cgcctggatg tgcccgtgtg ggacgtggaa gccaccctca acttcctcaa ggcccacttc
     1681 tccccaagca acatcatcct ggacttccct gcagctgggt cagctgcccg gagggatgtg
     1741 cagaatgtgg cagccgcccc agagctggcg atgggagccc tggagctgga aagccggaat
     1801 tcaactctgg accctgggaa gcctgagatg atgaagtccc ccacaaacac caccccacat
     1861 gtgccggctg agggacctga ggcaagtcga cccccgaagc tgcaccctgg cctcagagct
     1921 gcaccaggcc aggagcctcc tgagcacatg gcagagcttc agaggaatga gcaggagcag
     1981 ccgcttgggc agtggcactt gagcaagcga gacacagggg ctgcattgct ggctgagtcc
     2041 agggctgaga agaaccgcct ctggggccct ttggaggtca ggcgcgtggg ccgcagctcc
     2101 aagcagctgg tcgacatccc tgagggccag ctggaggccc gagctggacg gggccgaggc
     2161 cagtggctgc aggtgctggg agggggcttc tcttacctgg acatcagcct ctgtgtgggg
     2221 ctctattccc tgtccttcat gggcctgctg gccatgtaca cctacttcca ggccaagata
     2281 agggccctga agggccatgc tggccaccct gcagcctgaa ccacctgggg aggaggcggg
     2341 agagggagct gccatctcta ggcacctcaa gccccctgac cccattccct cccctcccac
     2401 cccttgctcc ttgtctggcc tagaagtgtg ggaaattcag gaaaacgagt tgctccagtg
     2461 aagcttcttg gggttgctag gacagagagc tcctttgaca caaaagacag gagcagggtc
     2521 caggttcccc tgctgtgcag ggagggcagc cccgggcagt gggcataggg cagctcagtc
     2581 cctggcctct tagcaccaca ttcctgtttt tcagcttatt tgaagtcctg cctcattctc
     2641 actggagcct cagtctctcc tgcttggtct tggccctcaa ctggggcaag tgaagccaga
     2701 ggagggtccc ccagctgggt gggctggaat ggaactcctc actagctgct ggggctccgc
     2761 ccaccctgct cccttccgga caatgaagaa gcctttgcac cctgggagga aggaccaccc
     2821 cgggccctct atgcctggcc agcctccagc tcctcagacc tcctgggtgg ggtttggctt
     2881 cagggtgggg tttggaagct tctggaagtc gtgctggtct cccaggtgag gcaagccatg
     2941 gttgctgggc tgtagggtga gtggcttgct tggtgggacc tgacgagttg gtggcatggg
     3001 aaggatgtgg gtctctagtg ccttgccctg gcttagctgc aggagaagat ggctgctttc
     3061 acttcccccc attgagctct gctccctctg agcctggtct tttgtccttt tttattttgg
     3121 tctccaagat gaatgctcat ctttggaggg tgccaggtag aagctaggga ggggagtgtc
     3181 ttctctctcc aggtttcacc ttccagtgtg cagaagttag aagggtctgg cgggggcagt
     3241 gccttacaca tgcttgattc ccacgctacc ccctgccttg ggaggtgtgt ggaataaatt
     3301 atttttgtta aggc
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_019026. Homo sapiens puta...[gi:24308132] Links  


LOCUS       LOC54499                1186 bp    mRNA    linear   PRI 24-OCT-2002
DEFINITION  Homo sapiens putative membrane protein (LOC54499), mRNA.
ACCESSION   NM_019026
VERSION     NM_019026.1  GI:24308132
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1
  AUTHORS   Iwamuro,S., Saeki,M. and Kato,S.
  TITLE     Multi-ubiquitination of a nascent membrane protein produced in a
            rabbit reticulocyte lysate
  JOURNAL   J. Biochem. 126 (1), 48-53 (1999)
  MEDLINE   99321840
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB020980.1.
FEATURES             Location/Qualifiers
     source          1..1186
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22-q25"
                     /clone="HP10122"
                     /cell_type="gastric adenocarcinoma"
                     /clone_lib="pKA1-meta-1"
     gene            1..1186
                     /gene="LOC54499"
                     /db_xref="LocusID:54499"
     CDS             139..705
                     /gene="LOC54499"
                     /note="putative"
                     /codon_start=1
                     /product="putative membrane protein"
                     /protein_id="NP_061899.1"
                     /db_xref="GI:24308133"
                     /db_xref="LocusID:54499"
                     /translation="MSTMFADTLLIVFISVCTALLAEGITWVLVYRTDKYKRLKAEVE
                     KQSKKLEKKKETITESAGRQQKKKIERQEEKLKNNNRDLSMVRMKSMFAIGFCFTALM
                     GMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTDCSFIFLYILCTMSIRQNIQK
                     ILGLAPSRAATKQAGGFLGPPPPSGKFS"
BASE COUNT      324 a    232 c    264 g    366 t
ORIGIN      
        1 aagtgcgatc ttcgggctgt cagagttggt ctgttactcg gtggtggcgg agtctacgga
       61 agccgttttc gcttcacttt tcctggctgt agagcgcttt ccccctggcg ggtgagagtg
      121 cagagacgaa ggtgcgagat gagcactatg ttcgcggaca ctctcctcat cgtttttatc
      181 tctgtgtgca cggctctgct cgcagagggc ataacctggg tcctggttta caggacagac
      241 aagtacaaga gactgaaggc agaagtggaa aaacagagta aaaaattgga aaagaagaag
      301 gaaacaataa cagagtcagc tggtcgacaa cagaaaaaga aaatagagag acaagaagag
      361 aaactgaaga ataacaacag agatctatca atggttcgaa tgaaatccat gtttgctatt
      421 ggcttttgtt ttactgccct aatgggaatg ttcaattcca tatttgatgg tagagtggtg
      481 gcaaagcttc cttttacccc tctttcttac atccaaggac tgtctcatcg aaatctgctg
      541 ggagatgaca ccacagactg ttccttcatt ttcctgtata ttctctgtac tatgtcgatt
      601 cgacagaaca ttcagaagat tctcggcctt gccccttcac gagccgccac caagcaggca
      661 ggtggatttc ttggcccacc acctccttct gggaagttct cttgaactca agaactcttt
      721 attttctatc attctttcta gacacacaca catcagactg gcaactgttt tgtagcaaga
      781 gccataggta gccttactac ttgggcctct ttctagtttt gaattatttc taagcctttt
      841 gggtatgatt agagtgaaaa tggcagccag caaacttgat agtgcttttg gtcctagatg
      901 atttttatca aataagtgga ttgattagtt aagttcaggt aatgtttatg taatgaaaaa
      961 caaatagcat ccttcttgtt tcatttacat aagtattttc tgtgggaccg actctcaagg
     1021 cactgtgtat gccctgcaag ttggctgtct atgagcattt agagatttag aagaaaaatt
     1081 tagtttgttt aacccttgta actgtttgtt ttgttgttgt ttttttttca agccaaatac
     1141 atgacataag atcaataaag aggccaaatt tttagctgtt ttatgt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesProteinProteinPubMedPubMedTaxonomyTaxonomyUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_020123. Homo sapiens SM-1...[gi:10047129] Links  


LOCUS       SMBP                    3389 bp    mRNA    linear   PRI 15-MAY-2002
DEFINITION  Homo sapiens SM-11044 binding protein (SMBP), mRNA.
ACCESSION   NM_020123
VERSION     NM_020123.1  GI:10047129
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3389)
  AUTHORS   Gu,Y., Peng,Y., Li,Y., Fu,S., Gu,J., Gu,W., Jiang,C., Yu,Y.,
            Han,Z., Wang,Y., Chen,Z. and Fu,G.
  TITLE     A novel gene expressed in human adrenal gland
  JOURNAL   Unpublished
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF160213.1.
FEATURES             Location/Qualifiers
     source          1..3389
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
                     /tissue_type="adrenal gland"
     gene            1..3389
                     /gene="SMBP"
                     /note="EP70-P-iso"
                     /db_xref="LocusID:56889"
     CDS             20..1780
                     /gene="SMBP"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="endomembrane protein emp70 precursor isolog"
                     /protein_id="NP_064508.1"
                     /db_xref="GI:10047130"
                     /db_xref="LocusID:56889"
                     /translation="MRPLPGALGVAAAALWLLLLLLPRTRADEHEHTYQDKEEVVLWM
                     NTVGPYHNRQETYKYFSLPFCVGSKKSISHYHETLGEALQGVELEFSGLDIKFKDDVM
                     PATYCEIDLDKEKRDAFVYAIKNHYWYQMYIDDLPIWGIVGEADENGEDYYLWTYKKL
                     EIGFNGNRIVDVNLTSEGKVKLGSKYYNPDVIFSKMEKSDVKFEDRFDNILIVLFSHR
                     IHWFSIFNSFMMVIFLVGLVSMILMRTLRKDYARYSKEEEMDDMDRDLGDEYGWKQVH
                     GDVFRPSSHPLIFSSLIGSGCQIFAVSLIVIIVAMIEDLYTERGSMLSTAIFVYAATS
                     PVNGYFGGSLYARQGGRRWIKQMFIGAFLIPAMGVHCLLHQFHSHLLPCFKSHSFWNN
                     GGRLLHLFFCYSSSKSCWYNTWPKSVRSAQLSLSCQCCASSYTGEKMVHGAAVIVCLG
                     GILPFGSIFIEMYFIFTSFWAYKIYYVYGFMMLVLVILCIVTVCVTIVCTYFLLNAED
                     YRWQWTSFLSAASTAIYVYMYSFYYYFFKTKMYGLFQTSFYFGYMAVFSTALGIMCGA
                     IGYMGTSAFVRKIYTNVKID"
     misc_feature    182..1591
                     /gene="SMBP"
                     /note="EMP70; Region: Endomembrane protein 70"
                     /db_xref="CDD:pfam02990"
     variation       2072
                     /gene="SMBP"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:10762"
     variation       3180
                     /gene="SMBP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1132913"
     variation       3199
                     /gene="SMBP"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1132914"
     variation       3224
                     /gene="SMBP"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3194228"
     variation       3268
                     /gene="SMBP"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3194234"
     variation       3366
                     /gene="SMBP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3194244"
BASE COUNT     1001 a    550 c    705 g   1133 t
ORIGIN      
        1 ggcacgaggg gcgcggagga tgaggccgct gcctggcgct cttggcgtgg cggccgccgc
       61 gctgtggctg ctgctgctgc tgctgccccg gacccgggcg gacgagcacg aacacacgta
      121 tcaagataaa gaggaagttg tcttatggat gaatactgtt gggccctacc ataatcgtca
      181 agaaacatat aagtactttt cacttccatt ctgtgtgggg tcaaaaaaaa gtatcagtca
      241 ttaccatgaa actctgggag aagcacttca aggggttgaa ttggaattta gtggtctgga
      301 tattaaattt aaagatgatg tgatgccagc cacttactgt gaaattgatt tagataaaga
      361 aaagagagat gcatttgtat atgccataaa aaatcattac tggtaccaga tgtacataga
      421 tgatttacca atatggggta ttgttggtga ggctgatgaa aatggagaag attactatct
      481 ttggacctat aaaaaacttg aaataggttt taatggaaat cgaattgttg atgttaatct
      541 aactagtgaa ggaaaggtga aactgggttc caaatactat aatccagatg tcatattcag
      601 taaaatggaa aagtcagatg tgaaatttga agatcgattt gacaatatct tgatcgtcct
      661 tttttcacat cggattcatt ggttttcaat tttcaactcc ttcatgatgg tgatcttctt
      721 ggtgggctta gtttcaatga ttttaatgag aacattaaga aaagattatg ctcggtacag
      781 taaagaggaa gaaatggatg atatggatag agacctagga gatgaatatg gatggaaaca
      841 ggtgcatgga gatgtattta gaccatcaag tcacccactg atattttcct ctctgattgg
      901 ttctggatgt cagatatttg ctgtgtctct catcgttatt attgttgcaa tgatagaaga
      961 tttatatact gagaggggat caatgctcag tacagccata tttgtctatg ctgctacgtc
     1021 tccagtgaat ggttattttg gaggaagtct gtatgctaga caaggaggaa ggagatggat
     1081 aaagcagatg tttattgggg cattccttat cccagctatg ggtgtgcact gccttcttca
     1141 tcaatttcat agccatttat taccatgctt caagagccat tccttttgga acaatggtgg
     1201 ccgtttgttg catctgtttt tttgttattc ttcctctaaa tcttgttggt acaatacttg
     1261 gccgaaatct gtcaggtcag cccaactttc cttgtcgtgt caatgctgtg cctcgtccta
     1321 taccggagaa aaaatggttc atggagctgc ggttattgtt tgcctgggtg gaattttacc
     1381 ttttggttca atctttattg aaatgtattt catcttcacg tctttctggg catataagat
     1441 ctattatgtc tatggcttca tgatgctggt gctggttatc ctgtgcattg tgactgtctg
     1501 tgtgactatt gtgtgcacat attttctact aaatgcagaa gattaccggt ggcaatggac
     1561 aagttttctc tctgctgcat caactgcaat ctatgtttac atgtattcct tttactacta
     1621 ttttttcaaa acaaagatgt atggcttatt tcaaacatca ttttactttg gatatatggc
     1681 ggtatttagc acagccttgg ggataatgtg tggagcgatt ggttacatgg gaacaagtgc
     1741 ctttgtccga aaaatctata ctaatgtgaa aattgactag agacccaaga aaacctggaa
     1801 ctttggatca atttcttttt cataggggtg gaacttgcac agcaaaaaca aacaaacgca
     1861 agaagagatt tgggctttaa cacactgggt actttgtggg tctctctttc gtcggtggct
     1921 taaagtaaca tctatttcca ttgatcctag gttcttcctg actgctttct ccaactgttc
     1981 acagcaaatg cttggatttt atgcagtagg cattactaca gtacatggct aatcttccca
     2041 aaaactagct cattaaagat gaaatagacc agctctcttc agtgaagagg acaaatagtt
     2101 tatttaaagc atttgttcca ataaaataaa tagagggaaa cttggatgct aaaattacat
     2161 gaataggaat cttcctggca cttagtgttt ctatgttatt gaaaaatgat gttccagaaa
     2221 gattactttt ttcctcttat ttttactgcc attgtcgacc tattgtggga catttttata
     2281 tattgaatct gggttctttt ttgacttttt ttttttccca atccaacagc atcctttttt
     2341 ttaaaagaga gaattagaaa atattaaatc ctgcatgtaa tatatctgct gtcatcttag
     2401 ttggaccaac ttcccattta tttatcttaa aactatacag ttacatctta attccatcca
     2461 aagaagatac agtttgaaga cagaagtgta ctctctacaa tgcaatttac tgtacagtta
     2521 gaaagcaaag tgttaaatgg agaagatact tgtttttatt aaacattttg agatttagat
     2581 aaactacatt ttaactgaat gtctaaagtg attatctttt ttccccccaa gttagtctta
     2641 aatcttttgg gtttgaatga aggttttaca taagaaatta ttaaaaacaa ggggggtggg
     2701 taataaatgt atataacatt aaataatgta acgtaggtgt agattcccaa atgcatttgg
     2761 atgtacagat cgactacaga gtactttttt cttatgatga ttggtgtaga aatgtgtgat
     2821 ttgggtgggc ttttacatct tgcctaccat tgcatgaaac attggggttt cttcaaaatg
     2881 tgtgtgtcat acttcttttg ggaggggggt tgttttcttc tgtttatttt ctgagactcc
     2941 tacaggagcc aaatttgtaa tttagagaca cttaattttg ttaatcctgt ctgggacact
     3001 taagtaacat ctaaagcatt attgctttag aatgttcaaa taaaatttcc tgaccaaatt
     3061 gttttgtgga aatagatgtg tttgcaattt gaagatatct ttctgtccag aaggcaaaat
     3121 taccgaatgc catttttaaa agtatgctat aaactatgct actctcatac aggggacccg
     3181 tattttaaaa tctccagact tgcttacatc tagattatcc agcacaatca taaagtgaat
     3241 gacaaaccct ttgaatgaaa ttgtggcaca aaatctgttc aggttggtgt accgtgtaaa
     3301 gtggggatgg ggtaaaagtg gttaacgtac tgttggatca acaaataaag gttacagttt
     3361 tgtaagagaa aaaaaaaaaa aaaaaaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_003872. Homo sapiens neur...[gi:4505458] Links  


LOCUS       NRP2                    2781 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens neuropilin 2 (NRP2), mRNA.
ACCESSION   NM_003872
VERSION     NM_003872.1  GI:4505458
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2781)
  AUTHORS   Chen,H., Chedotal,A., He,Z., Goodman,C.S. and Tessier-Lavigne,M.
  TITLE     Neuropilin-2, a novel member of the neuropilin family, is a high
            affinity receptor for the semaphorins Sema E and Sema IV but not
            Sema III
  JOURNAL   Neuron 19 (3), 547-559 (1997)
  MEDLINE   97470888
   PUBMED   9331348
REFERENCE   2  (bases 1 to 2781)
  AUTHORS   Soker,S., Takashima,S., Miao,H.Q., Neufeld,G. and Klagsbrun,M.
  TITLE     Neuropilin-1 is expressed by endothelial and tumor cells as an
            isoform-specific receptor for vascular endothelial growth factor
  JOURNAL   Cell 92 (6), 735-745 (1998)
  MEDLINE   98188099
   PUBMED   9529250
REFERENCE   3  (bases 1 to 2781)
  AUTHORS   Rossignol,M., Beggs,A.H., Pierce,E.A. and Klagsbrun,M.
  TITLE     Human neuropilin-1 and neuropilin-2 map to 10p12 and 2q34,
            respectively
  JOURNAL   Genomics 57 (3), 459-460 (1999)
  MEDLINE   99263513
   PUBMED   10329017
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF022860.1.
FEATURES             Location/Qualifiers
     source          1..2781
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q34"
     gene            1..2781
                     /gene="NRP2"
                     /note="VEGF165R2; VEGF1265R2; NPN2"
                     /db_xref="LocusID:8828"
                     /db_xref="MIM:602070"
     CDS             1..2781
                     /gene="NRP2"
                     /codon_start=1
                     /product="neuropilin 2"
                     /protein_id="NP_003863.1"
                     /db_xref="GI:4505459"
                     /db_xref="LocusID:8828"
                     /db_xref="MIM:602070"
                     /translation="MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPG
                     YPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLG
                     KHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTI
                     ESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDG
                     IPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQ
                     CNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLR
                     FLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATE
                     VVLNKLHAPLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQI
                     SASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARG
                     GDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPI
                     PAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPTVKTLGPTVKSEETTTPYPTEEEAT
                     ECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPD
                     DRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQES
                     KLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLE
                     NCMEPISAFAVDIPEIHEREGYEDEIDDEYEVDWSNSSSATSGSGAPSTDKEKSWLYT
                     LDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHK
                     VKMNHQKCCSEA"
     misc_feature    82..426
                     /gene="NRP2"
                     /note="CUB; Region: Domain first found in C1r, C1s, uEGF,
                     and bone morphogenetic protein."
                     /db_xref="CDD:CUB"
     misc_feature    82..417
                     /gene="NRP2"
                     /note="CUB; Region: CUB domain"
                     /db_xref="CDD:pfam00431"
     misc_feature    445..801
                     /gene="NRP2"
                     /note="CUB; Region: Domain first found in C1r, C1s, uEGF,
                     and bone morphogenetic protein."
                     /db_xref="CDD:CUB"
     misc_feature    445..792
                     /gene="NRP2"
                     /note="CUB; Region: CUB domain"
                     /db_xref="CDD:pfam00431"
     misc_feature    838..1272
                     /gene="NRP2"
                     /note="F5_F8_type_C; Region: F5/8 type C domain"
                     /db_xref="CDD:pfam00754"
     misc_feature    1309..1767
                     /gene="NRP2"
                     /note="F5_F8_type_C; Region: F5/8 type C domain"
                     /db_xref="CDD:pfam00754"
     misc_feature    1921..2406
                     /gene="NRP2"
                     /note="MAM; Region: Domain in meprin, A5, receptor protein
                     tyrosine phosphatase mu (and others)"
                     /db_xref="CDD:MAM"
     misc_feature    1936..2388
                     /gene="NRP2"
                     /note="MAM; Region: MAM domain"
                     /db_xref="CDD:pfam00629"
     variation       123
                     /gene="NRP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228643"
     variation       726
                     /gene="NRP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2228642"
     variation       870
                     /gene="NRP2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2228639"
     variation       complement(1404)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:849568"
     variation       1804
                     /gene="NRP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1128169"
     variation       1806
                     /gene="NRP2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1128170"
BASE COUNT      665 a    809 c    748 g    559 t
ORIGIN      
        1 atggatatgt ttcctctcac ctgggttttc ttagccctct acttttcaag acaccaagtg
       61 agaggccaac cagacccacc gtgcggaggt cgtttgaatt ccaaagatgc tggctatatc
      121 acctctcccg gttaccccca ggactacccc tcccaccaga actgcgagtg gattgtttac
      181 gcccccgaac ccaaccagaa gattgtcctc aacttcaacc ctcactttga aatcgagaag
      241 cacgactgca agtatgactt tatcgagatt cgggatgggg acagtgaatc cgcagacctc
      301 ctgggcaaac actgtgggaa catcgccccg cccaccatca tctcctcggg ctccatgctc
      361 tacatcaagt tcacctccga ctacgcccgg cagggggcag gcttctctct gcgctacgag
      421 atcttcaaga caggctctga agattgctca aaaaacttca caagccccaa cgggaccatc
      481 gaatctcctg ggtttcctga gaagtatcca cacaacttgg actgcacctt taccatcctg
      541 gccaaaccca agatggagat catcctgcag ttcctgatct ttgacctgga gcatgaccct
      601 ttgcaggtgg gagaggggga ctgcaagtac gattggctgg acatctggga tggcattcca
      661 catgttggcc ccctgattgg caagtactgt gggaccaaaa caccctctga acttcgttca
      721 tcgacgggga tcctctccct gacctttcac acggacatgg cggtggccaa ggatggcttc
      781 tctgcgcgtt actacctggt ccaccaagag ccactagaga actttcagtg caatgttcct
      841 ctgggcatgg agtctggccg gattgctaat gaacagatca gtgcctcatc tacctactct
      901 gatgggaggt ggacccctca acaaagccgg ctccatggtg atgacaatgg ctggaccccc
      961 aacttggatt ccaacaagga gtatctccag gtggacctgc gctttttaac catgctcacg
     1021 gccatcgcaa cacagggagc gatttccagg gaaacacaga atggctacta cgtcaaatcc
     1081 tacaagctgg aagtcagcac taatggagag gactggatgg tgtaccggca tggcaaaaac
     1141 cacaaggtat ttcaagccaa caacgatgca actgaggtgg ttctgaacaa gctccacgct
     1201 ccactgctga caaggtttgt tagaatccgc cctcagacct ggcactcagg tatcgccctc
     1261 cggctggagc tcttcggctg ccgggtcaca gatgctccct gctccaacat gctggggatg
     1321 ctctcaggcc tcattgcaga ctcccagatc tccgcctctt ccacccagga atacctctgg
     1381 agccccagtg cagcccgcct ggtcagcagc cgctcgggct ggttccctcg aatccctcag
     1441 gcccagcccg gtgaggagtg gcttcaggta gatctgggaa cacccaagac agtgaaaggt
     1501 gtcatcatcc agggagcccg cggaggagac agtatcactg ctgtggaagc cagagcattt
     1561 gtgcgcaagt tcaaagtctc ctacagccta aacggcaagg actgggaata cattcaggac
     1621 cccaggaccc agcagccaaa gctgttcgaa gggaacatgc actatgacac ccctgacatc
     1681 cgaaggtttg accccattcc ggcacagtat gtgcgggtat acccggagag gtggtcgccg
     1741 gcggggattg ggatgcggct ggaggtgctg ggctgtgact ggacagactc caagcccacg
     1801 gtaaaaacgc tgggacccac tgtgaagagc gaagagacaa ccacccccta ccccaccgaa
     1861 gaggaggcca cagagtgtgg ggagaactgc agctttgagg atgacaaaga tttgcagctc
     1921 ccttcgggat tcaattgcaa cttcgatttc ctcgaggagc cctgtggttg gatgtatgac
     1981 catgccaagt ggctccggac cacctgggcc agcagctcca gcccaaacga ccggacgttt
     2041 ccagatgaca ggaatttctt gcggctgcag agtgacagcc agagagaggg ccagtatgcc
     2101 cggctcatca gcccccctgt ccacctgccc cgaagcccgg tgtgcatgga gttccagtac
     2161 caggccacgg gcggccgcgg ggtggcgctg caggtggtgc gggaagccag ccaggagagc
     2221 aagttgctgt gggtcatccg tgaggaccag ggcggcgagt ggaagcacgg gcggatcatc
     2281 ctgcccagct acgacatgga gtaccagatt gtgttcgagg gagtgatagg gaaaggacgt
     2341 tccggagaga ttgccattga tgacattcgg ataagcactg atgtcccact ggagaactgc
     2401 atggaaccca tctcggcttt tgcagtggac atcccagaaa tacatgagag agaaggatat
     2461 gaagatgaaa ttgatgatga atacgaggtg gactggagca attcttcttc tgcaacctca
     2521 gggtctggcg ccccctcgac cgacaaagaa aagagctggc tgtacaccct ggatcccatc
     2581 ctcatcacca tcatcgccat gagctcactg ggcgtcctcc tgggggccac ctgtgcaggc
     2641 ctcctgctct actgcacctg ttcctactcg ggcctgagct cccgaagctg caccacactg
     2701 gagaactaca acttcgagct ctacgatggc cttaagcaca aggtcaagat gaaccaccaa
     2761 aagtgctgct ccgaggcatg a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_020820. Homo sapiens KIAA...[gi:19882228] Links  


LOCUS       PRex1                   5861 bp    mRNA    linear   PRI 08-MAY-2002
DEFINITION  Homo sapiens KIAA1415 protein (PRex1), mRNA.
ACCESSION   NM_020820
VERSION     NM_020820.1  GI:19882228
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5861)
  AUTHORS   Nagase,T., Kikuno,R., Ishikawa,K.I., Hirosawa,M. and Ohara,O.
  TITLE     Prediction of the coding sequences of unidentified human genes.
            XVI. The complete sequences of 150 new cDNA clones from brain which
            code for large proteins in vitro
  JOURNAL   DNA Res. 7 (1), 65-73 (2000)
  MEDLINE   20181126
   PUBMED   10718198
REFERENCE   2  (bases 1 to 5861)
  AUTHORS   Fossey,S.C., Mychaleckyj,J.C., Pendleton,J.K., Snyder,J.R.,
            Bensen,J.T., Hirakawa,S., Rich,S.S., Freedman,B.I. and Bowden,D.W.
  TITLE     A high-resolution 6.0-megabase transcript map of the type 2
            diabetes susceptibility region on human chromosome 20
  JOURNAL   Genomics 76 (1-3), 45-57 (2001)
  MEDLINE   21433822
   PUBMED   11549316
REFERENCE   3
  AUTHORS   Welch,H.C., Coadwell,W.J., Ellson,C.D., Ferguson,G.J.,
            Andrews,S.R., Erdjument-Bromage,H., Tempst,P., Hawkins,P.T. and
            Stephens,L.R.
  TITLE     P-Rex1, a PtdIns(3,4,5)P(3)- and Gbetagamma-Regulated
            Guanine-Nucleotide Exchange Factor for Rac
  JOURNAL   Cell 108 (6), 809-821 (2002)
  MEDLINE   21952478
   PUBMED   11955434
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AJ320261.1.
FEATURES             Location/Qualifiers
     source          1..5861
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.13"
     gene            1..5861
                     /gene="PRex1"
                     /note="KIAA1415"
                     /db_xref="LocusID:57580"
                     /db_xref="MIM:606905"
     CDS             24..5003
                     /gene="PRex1"
                     /function="PI3K- and GBetaGamma-regulated
                     guanine-nucleotide exchange factor for Rac"
                     /codon_start=1
                     /evidence=experimental
                     /product="P-Rex1"
                     /protein_id="NP_065871.1"
                     /db_xref="GI:19882229"
                     /db_xref="LocusID:57580"
                     /db_xref="MIM:606905"
                     /translation="MEAPSGSEPGGDGAGDCAHPDPRAPGAAAPSSGPGPCAAARESE
                     RQLRLRLCVLNEILGTERDYVGTLRFLQSAFLHRIRQNVADSVEKGLTEENVKVLFSN
                     IEDILEVHKDFLAALEYCLHPEPQSQHELGNVFLKFKDKFCVYEEYCSNHEKALRLLV
                     ELNKIPTVRAFLLSCMLLGGRKTTDIPLEGYLLSPIQRICKYPLLLKELAKRTPGKHP
                     DHPAVQSALQAMKTVCSNINETKRQMEKLEALEQLQSHIEGWEGSNLTDICTQLLLQG
                     TLLKISAGNIQERAFFLFDNLLVYCKRKSRVTGSKKSTKRTKSINGSLYIFRGRINTE
                     VMEVENVEDGTADYHSNGYTVTNGWKIHNTAKNKWFVCMAKTAEEKQKWLDAIIRERE
                     QRESLKLGMERDAYVMIAEKGEKLYHMMMNKKVNLIKDRRRKLSTVPKCFLGNEFVAW
                     LLEIGEISKTEEGVNLGQALLENGIIHHVSDKHQFKNEQVMYRFRYDDGTYKARSELE
                     DIMSKGVRLYCRLHSLYTPVIKDRDYHLKTYKSVLPGSKLVDWLLAQGDCQTREEAVA
                     LGVGLCNNGFMHHVLEKSEFRDESQYFRFHADEEMEGTSSKNKQLRNDFKLVENILAK
                     RLLILPQEEDYGFDIEEKNKAVVVKSVQRGSLAEVAGLQVGRKIYSINEDLVFLRPFS
                     EVESILNQSFCSRRPLRLLVATKAKEIIKIPDQPDTLCFQIRGAAPPYVYAVGRGSEA
                     MAAGLCAGQCILKVNGSNVMNDGAPEVLEHFQAFRSRREEALGLYQWIYHTHEDAQEA
                     RASQEASTEDPSGEQAQEEDQADSAFPLLSLGPRLSLCEDSPMVTLTVDNVHLEHGVV
                     YEYVSTAGVRCHVLEKIVEPRGCFGLTAKILEAFAANDSVFVENCRRLMALSSAIVTM
                     PHFEFRNICDTKLESIGQRIACYQEFAAQLKSRVSPPFKQAPLEPHPLCGLDFCPTNC
                     HINLMEVSYPKTTPSVGRSFSIRFGRKPSLIGLDPEQGHLNPMSYTQHCITTMAAPSW
                     KCLPAAEGDPQGQGLHDGSFGPASGTLGQEDRGLSFLLKQEDREIQDAYLQLFTKLDV
                     ALKEMKQYVTQINRLLSTITEPTSGGSCDTSLAEEASSLPLVSEESEMDRSDHGGIKK
                     VCFKVAEEDQEDSGHDTMSYRDSYSECNSNRDSVLSYTSVRSNSSYLGSDEMGSGDEL
                     PCDMRIPSDKQDKLHGCLEHLFNQVDSINALLKGPVMSRAFEETKHFPMNHSLQEFKQ
                     KEECTIRGRSLIQISIQEDPWNLPNSIKTLVDNIQRYVEDGKNQLLLALLKCTDTELQ
                     LRRDAIFCQALVAAVCTFSEQLLAALGYRYNNNGEYEESSRDASRKWLEQVAATGVLL
                     HCQSLLSPATVKEERTMLEDIWVTLSELDNVTFSFKQLDENYVANTNVFYHIEGSRQA
                     LKVIFYLDSYHFSKLPSRLEGGASLRLHTALFTKVLENVEGLPSPGSQAAEDLQQDIN
                     AQSLEKVQQYYRKLRAFYLERSNLPTDASTTAVKIDQLIRPINALDELCRLMKSFVHP
                     KPGAAGSVGAGLIPISSELCYRLGACQMVMCGTGMQRSTLSVSLEQAAILARSHGLLP
                     KCIMQATDIMRKQGPRVEILAKNLRVKDQMPQGAPRLYRLCQPPVDGDL"
     misc_feature    180..740
                     /gene="PRex1"
                     /note="RhoGEF; Region: Guanine nucleotide exchange factor
                     for Rho/Rac/Cdc42-like GTPases"
                     /db_xref="CDD:smart00325"
     misc_feature    180..740
                     /gene="PRex1"
                     /note="RhoGEF; Region: RhoGEF domain"
                     /db_xref="CDD:pfam00621"
     misc_feature    837..1190
                     /gene="PRex1"
                     /note="PH; Region: PH domain"
                     /db_xref="CDD:pfam00169"
     misc_feature    837..1184
                     /gene="PRex1"
                     /note="PH; Region: Pleckstrin homology domain."
                     /db_xref="CDD:smart00233"
     misc_feature    1305..1505
                     /gene="PRex1"
                     /note="DEP; Region: Domain found in Dishevelled, Egl-10,
                     and Pleckstrin"
                     /db_xref="CDD:smart00049"
     misc_feature    1305..1505
                     /gene="PRex1"
                     /note="DEP; Region: Domain found in Dishevelled, Egl-10,
                     and Pleckstrin"
                     /db_xref="CDD:pfam00610"
     misc_feature    1608..1817
                     /gene="PRex1"
                     /note="DEP; Region: Domain found in Dishevelled, Egl-10,
                     and Pleckstrin"
                     /db_xref="CDD:pfam00610"
     misc_feature    1608..1808
                     /gene="PRex1"
                     /note="DEP; Region: Domain found in Dishevelled, Egl-10,
                     and Pleckstrin"
                     /db_xref="CDD:smart00049"
     misc_feature    1914..2129
                     /gene="PRex1"
                     /note="PDZ; Region: Domain present in PSD-95, Dlg, and
                     ZO-1/2."
                     /db_xref="CDD:smart00228"
     misc_feature    1959..2039
                     /gene="PRex1"
                     /note="PDZ; Region: PDZ domain (Also known as DHR or
                     GLGF)"
                     /db_xref="CDD:pfam00595"
     misc_feature    2148..2330
                     /gene="PRex1"
                     /note="PDZ; Region: Domain present in PSD-95, Dlg, and
                     ZO-1/2."
                     /db_xref="CDD:smart00228"
     variation       3248
                     /gene="PRex1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2281287"
     variation       complement(5401)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:2664527"
     variation       complement(5577)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2664564"
     variation       5723
                     /gene="PRex1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1053455"
     variation       complement(5808)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2598"
     variation       complement(5808)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3810532"
     variation       5832
                     /gene="PRex1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1053434"
BASE COUNT     1300 a   1736 c   1715 g   1110 t
ORIGIN      
        1 cggcgccgcg cggccgcgct agaatggagg cgcccagcgg cagcgagccc ggcggcgacg
       61 gggccgggga ctgcgcccac ccggaccccc gggcccctgg cgccgcggcg cccagctccg
      121 gccccggccc gtgcgcggcc gcccgggagt ccgagcgcca gctgcgcctc cgcctctgcg
      181 tcctcaacga gatcttgggc accgagaggg actacgtggg caccttgcgc ttcttgcagt
      241 cggcattcct gcatcgcatc cggcagaacg tggccgactc agtggagaag ggcctcacgg
      301 aggagaatgt caaggtcctg ttctcgaaca tcgaagacat cctggaagtt cataaggatt
      361 tcttggccgc cttggagtat tgtttacacc cggagccgca gtctcagcat gaacttggga
      421 atgttttctt aaaattcaag gacaagttct gcgtgtacga ggagtattgc agcaaccatg
      481 agaaagccct gaggctgctg gtggagctga acaagatccc taccgtgcgc gccttccttt
      541 tgagctgcat gcttctggga ggccggaaga ccacggacat ccctttggaa ggctacctgt
      601 tgtctccgat ccagaggatc tgcaagtacc cgctcctcct taaggagctg gccaagagga
      661 ctcccggcaa gcacccagac caccccgcgg tccagagtgc cctgcaggcc atgaagaccg
      721 tttgctccaa catcaatgag accaagcggc agatggagaa gctggaagcc ctggagcagc
      781 tgcagtccca catcgaaggc tgggagggtt ccaacctcac agacatctgc actcagctcc
      841 tcctgcaagg gactttgtta aagatctctg cgggcaacat ccaggaaagg gccttcttcc
      901 tcttcgacaa ccttctcgtc tactgcaagc ggaaatccag ggtcaccggg agcaagaagt
      961 ccaccaagag gaccaaatcc atcaacggct ccctctacat cttcaggggt cgaatcaaca
     1021 ctgaagtcat ggaggtggag aatgtggaag atgggacagc ggattaccat agcaatggct
     1081 ataccgtcac caacggctgg aagatccaca acacggccaa gaataagtgg tttgtctgca
     1141 tggccaagac ggcagaggag aagcagaagt ggctggatgc catcatccgc gagcgggagc
     1201 agcgcgagag cctgaagctg ggcatggagc gtgatgccta cgtcatgatt gcggagaagg
     1261 gggagaagct gtaccacatg atgatgaaca agaaggtgaa cctcatcaag gaccgccgga
     1321 gaaagctgag cactgtcccc aagtgctttc ttggcaatga gttcgttgcc tggctcctag
     1381 aaattggtga aatcagcaag acggaagaag gagtcaactt gggccaagcc ctgttggaga
     1441 atggcatcat ccaccatgtt tccgacaagc accagttcaa gaatgagcag gtgatgtatc
     1501 gcttccgcta cgacgatggc acctacaagg cccgaagtga gctggaggac atcatgtcca
     1561 agggtgtgag gctttactgc cgtcttcaca gcctctacac cccggtgatc aaagaccgtg
     1621 attaccacct gaagacctac aagtcagtgc ttcccgggag caagctggtg gactggctgc
     1681 tggctcaggg agactgccag actcgggagg aggcagtggc gctcggcgtg ggtctgtgca
     1741 acaatggctt catgcaccac gtgctggaga agagcgagtt cagggatgag tcccagtact
     1801 tccgctttca tgctgacgag gagatggagg ggaccagcag caagaacaaa cagcttcgca
     1861 acgacttcaa gctggtggag aacattctgg ccaagcgcct gctgatcctg ccccaggagg
     1921 aggactatgg ctttgacatc gaggagaaga acaaggctgt ggtggtgaag tccgtccaga
     1981 ggggctcgct ggctgaggtg gctggcctgc aggtggggag gaagatctac tccatcaatg
     2041 aggacctggt gttcctgcgg ccgttttcag aggtggagtc catcctcaac cagtccttct
     2101 gctcccgccg ccctctgcgc ctcctggtgg ccacgaaggc caaagagatc atcaaaatcc
     2161 ccgaccagcc ggacacactg tgcttccaga ttcgtggagc tgccccaccg tacgtctatg
     2221 ctgtggggag aggctctgag gccatggctg cagggctctg tgctggtcag tgcattctga
     2281 aggtcaatgg cagcaacgtg atgaacgatg gtgcccctga ggtcctggag cacttccagg
     2341 cattccggag tcggcgcgaa gaggccctgg gcctgtacca gtggatctac cacacccatg
     2401 aggatgccca ggaagcacga gccagtcagg aggcctccac tgaggacccc agtggcgagc
     2461 aggcccagga ggaagaccag gctgattcag ccttcccact gctgtccctg ggtccccggc
     2521 tgagcctgtg tgaggacagc cccatggtca ccctgactgt ggacaacgtg cacctggaac
     2581 acggcgtggt gtatgagtat gtgagcacgg caggcgtcag gtgccatgtg ctggagaaga
     2641 tcgtggagcc ccgcggctgc ttcggcctca ccgccaagat cctcgaggcc tttgctgcca
     2701 atgacagcgt cttcgtggag aactgcaggc ggctcatggc cctgagcagc gccatcgtga
     2761 ccatgcccca ctttgagttc cgcaacatct gtgacaccaa gctggagagc attggccaga
     2821 ggattgcctg ctaccaggag tttgcagccc aactgaagag cagggtcagc ccacccttca
     2881 aacaagcccc cctggagccc cacccgctgt gtggcctgga cttctgcccc accaattgcc
     2941 acatcaacct catggaagtg tcctacccca agaccacccc ctcagtgggc aggtccttca
     3001 gcatccgctt tggacgcaaa ccctccctca tcggccttga cccggagcaa ggccacctga
     3061 accccatgtc gtacacccag cactgcatca ccaccatggc tgctccctcc tggaagtgct
     3121 tgcctgctgc agagggtgat ccccaaggcc agggtctcca tgatggcagc ttcgggccag
     3181 ccagtgggac ccttggtcag gaagaccggg gcctcagctt cctactcaag caggaggacc
     3241 gtgagatcca ggatgcctac ctgcagctct tcaccaagct ggatgtggcc ctgaaggaga
     3301 tgaagcaata tgtcacccag atcaacaggc tgctgtccac catcacagag cccacctcgg
     3361 gtgggtcctg cgacacatcc ttggctgagg aggcctcctc cctgcccctg gtcagtgaag
     3421 agagcgagat ggacaggagt gaccatgggg gcatcaagaa ggtgtgcttc aaggtggccg
     3481 aggaggacca ggaggactca ggccacgaca ccatgagtta tcgcgactcc tacagcgagt
     3541 gtaacagcaa tcgagactcg gtcctgtcct acaccagcgt gagaagtaac agctcctact
     3601 tgggcagcga cgagatgggg tctggagatg agctgccctg tgacatgcgg atcccatctg
     3661 acaagcagga caagcttcat ggctgcctgg agcacctctt taaccaggtg gactccatca
     3721 atgctctcct caaggggcca gtcatgagcc gggctttcga agagaccaag catttcccta
     3781 tgaaccacag cttacaagag tttaaacaga aagaagagtg tacaatccgt ggccggagcc
     3841 tgatccagat tagcatccag gaggacccct ggaacctccc caactccatc aagaccctgg
     3901 tggacaacat tcagagatat gtggaagatg ggaagaacca gctgctcctg gccttgctga
     3961 agtgcacaga cacggagctg cagctgcgca gagacgcgat cttctgccag gccctggtgg
     4021 ccgccgtgtg caccttctcc gagcagctgc tggcggccct gggctaccgc tacaacaaca
     4081 atggcgagta cgaggagagc agccgcgacg ccagccgcaa gtggctggag caggtggcgg
     4141 ccacgggcgt cctgctgcac tgccagtccc tgctctcgcc agccacagtg aaggaggaac
     4201 ggaccatgct ggaggacatc tgggtgacgc tgtcagagct ggacaatgtc accttctcct
     4261 ttaagcagct ggacgagaac tatgtggcca acaccaacgt cttctaccac attgagggca
     4321 gccggcaggc gctgaaggtc atcttctacc tcgacagcta ccacttctcc aagctgccct
     4381 cccgcctgga gggtggggcc agcctgaggc tgcacacagc gctgttcacg aaagtgctgg
     4441 agaacgtgga ggggctgcct tctccaggca gccaggccgc ggaggatttg cagcaggaca
     4501 tcaacgcgca gtccctggag aaagttcagc agtattaccg caaactcagg gcattttacc
     4561 tggagcggtc taacctgccc acggatgcca gcaccacggc ggtaaagata gaccagctga
     4621 tccgccccat caatgccctg gatgagctct gccgcctcat gaagtccttt gtccacccaa
     4681 agcctggtgc tgctgggagt gtgggcgccg gcctcatccc catctcctcg gagctctgct
     4741 accgcctggg ggcctgccag atggtcatgt gtggcacagg catgcagagg agcaccctga
     4801 gcgtgtccct ggagcaggcg gccatcttgg cacggagcca cgggttgctg cccaagtgca
     4861 tcatgcaggc cacggacatc atgcggaagc agggcccaag ggtggagatt ctggccaaaa
     4921 acctgcgagt caaggaccag atgccccagg gtgctccgcg cctctaccgc ctctgccagc
     4981 cgccggtgga tggggacctc tgaacaccca aatgccccac gctgggccgc ggcctctgga
     5041 gctgggattt gggaggacac agcaggcagc gctggccttc tccagggatg gcccaaggct
     5101 tccgcagccg cccgttccgg gacctgccca gcgtcctccc tgcctccttc cgggacaagc
     5161 ctggccaccc tcgctgtgat gacgagctgg ctgattggcc ctgggccggc ccattcttca
     5221 cacgcctgcc agaagctgga ggggtgctgg agacccatag agctgatggg agcagctggt
     5281 gcctggcctt cggctcctgc gtccccagaa cccaagggaa cgtcatggag gccacatggg
     5341 gccacccggc tccctcggga tggctccgcc tgcacttttg aaaccccggt ttccttcaac
     5401 gtccacattc caggtgacca cacgtgtctc ctcctcctca tcttagcttc caggttcacc
     5461 ctaaccctgt actaacctgc ttggtggact tggaaaagac ttggctctgt cgggaaagga
     5521 gagacggggc ctccatcacg cctgttacca gaggatcccc gagagccaca ccagctctgg
     5581 acatcaccgc ccctggaact ggggccacca gccctgggca cgagatttgc tctgacttta
     5641 tttatatggc atgaaatctc tggtttattt tgggattttt tgttgttggt gttgtcaaag
     5701 tttgtttttt ctaaagttgt gtgattatat atttgacatt ttacatttca aagaaaggta
     5761 tgttgtctaa caggggacca acagaaggta gtattgacaa ctgttcccgc ttctactaaa
     5821 aaaaaaagag cacaaaagaa aaactaaatt attgaaaaat t
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_018446. Homo sapiens glyc...[gi:8923854] Links  


LOCUS       AD-017                  1614 bp    mRNA    linear   PRI 07-OCT-2002
DEFINITION  Homo sapiens glycosyltransferase AD-017 (AD-017), transcript
            variant 2, mRNA.
ACCESSION   NM_018446
VERSION     NM_018446.1  GI:8923854
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1614)
  AUTHORS   Jiang,C., Wu,T., Huang,C., Peng,Y., Gu,Y., Xu,S., Jiang,C., Li,Y.,
            Han,Z., Wang,Y., Chen,Z. and Fu,G.
  TITLE     A novel gene expressed in the human adrenal gland
  JOURNAL   Unpublished
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF157318.1.
            Summary: This gene encodes a member of the glycosyltransferase
            family. The specific function of this protein has not been
            determined. Alternative splicing of this gene results in two
            transcript variants encoding the same protein.
            Transcript Variant: This variant (2) has a shorter and distinct
            5'UTR, as compared to variant 1.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1614
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1614
                     /gene="AD-017"
                     /note="FLJ14611"
                     /db_xref="LocusID:55830"
     misc_feature    1..82
                     /gene="AD-017"
                     /note="Region: alternate exon absent in variant 1"
     CDS             119..1234
                     /gene="AD-017"
                     /codon_start=1
                     /product="glycosyltransferase AD-017"
                     /protein_id="NP_060916.1"
                     /db_xref="GI:8923855"
                     /db_xref="LocusID:55830"
                     /translation="MSFRKVNIIILVLAVALFLLVLHHNFLSLSSLLRNEVTDSGIVG
                     PQPIDFVPNALRHAVDGRQEEIPVVIAASEDRLGGAIAAINSIQHNTRSNVIFYIVTL
                     NNTADHLRSWLNSDSLKSIRYKIVNFDPKLLEGKVKEDPDQGESMKPLTFARFYLPIL
                     VPSAKKAIYMDDDVIVQGDILALYNTALKPGHAAAFSEDCDSASTKVVIRGAGNQYNY
                     IGYLDYKKERIRKLSMKASTCSFNPGVFVANLTEWKRQNITNQLEKWMKLNVEEGLYS
                     RTLAGSITTPPLLIVFYQQHSTIDPMWNVRHLGSSAGKRYSPQFVKAAKLLHWNGHLK
                     PWGRTASYTDVWEKWYIPDPTGKFNLIRRYTEISNIK"
     misc_feature    353..1174
                     /gene="AD-017"
                     /note="Glyco_transf_8; Region: Glycosyl transferase family
                     8. This family includes enzymes that transfer sugar
                     residues to donor molecules. Members of this family are
                     involved in lipopolysaccharide biosynthesis and glycogen
                     synthesis. This family includes Lipopolysaccharide
                     galactosyltransferase, lipopolysaccharide
                     glucosyltransferase 1, and glycogenin glucosyltransferase"
                     /db_xref="CDD:pfam01501"
     variation       complement(1291)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:6976"
     variation       complement(1291)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3733040"
     polyA_signal    1569..1574
                     /gene="AD-017"
     polyA_site      1587
                     /gene="AD-017"
                     /evidence=experimental
     variation       1590
                     /gene="AD-017"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:3204605"
     polyA_site      1591
                     /gene="AD-017"
BASE COUNT      507 a    340 c    338 g    429 t
ORIGIN      
        1 cttgtcggag ccctaaccag gggtatctct gagcctggtg ggatccccgg agcgtcacat
       61 cactttccga tcacttcaaa gtggttaaaa actaatattt atatgacaga agaaaaagat
      121 gtcattccgt aaagtaaaca tcatcatctt ggtcctggct gttgctctct tcttactggt
      181 tttgcaccat aacttcctca gcttgagcag tttgttaagg aatgaggtta cagattcagg
      241 aattgtaggg cctcaaccta tagactttgt cccaaatgct ctccgacatg cagtagatgg
      301 gagacaagag gagattcctg tggtcatcgc tgcatctgaa gacaggcttg ggggggccat
      361 tgcagctata aacagcattc agcacaacac tcgctccaat gtgattttct acattgttac
      421 tctcaacaat acagcagacc atctccggtc ctggctcaac agtgattccc tgaaaagcat
      481 cagatacaaa attgtcaatt ttgaccctaa acttttggaa ggaaaagtaa aggaggatcc
      541 tgaccagggg gaatccatga aacctttaac ctttgcaagg ttctacttgc caattctggt
      601 tcccagcgca aagaaggcca tatacatgga tgatgatgta attgtgcaag gtgatattct
      661 tgccctttac aatacagcac tgaagccagg acatgcagct gcattttcag aagattgtga
      721 ttcagcctct actaaagttg tcatccgtgg agcaggaaac cagtacaatt acattggcta
      781 tcttgactat aaaaaggaaa gaattcgtaa gctttccatg aaagccagca cttgctcatt
      841 taatcctgga gtttttgttg caaacctgac ggaatggaaa cgacagaata taactaacca
      901 actggaaaaa tggatgaaac tcaatgtaga agagggactg tatagcagaa ccctggctgg
      961 tagcatcaca acacctcctc tgcttatcgt attttatcaa cagcactcta ccatcgatcc
     1021 tatgtggaat gtccgccacc ttggttccag tgctggaaaa cgatattcac ctcagtttgt
     1081 aaaggctgcc aagttactcc attggaatgg acatttgaag ccatggggaa ggactgcttc
     1141 atatactgat gtttgggaaa aatggtatat tccagaccca acaggcaaat tcaacctaat
     1201 ccgaagatat accgagatct caaacataaa gtgaaacaga atttgaactg taagcaagca
     1261 tttctcagga agtcctggaa gatagcatgc gtgggaagta acagttgcta ggcttcaatg
     1321 cctatcggta gcaagccatg gaaaaagatg tgtcagctag gtaaagatga caaactgccc
     1381 tgtctggcag tcagcttccc agacagacta tagactataa atatgtctcc atctgcctta
     1441 ccaagtgttt tcttactaca atgctgaatg actggaaaga agaactgata tggctagttc
     1501 agctagctgg tacagataat tcaaaactgc tgttggtttt aattttgtaa cctgtggcct
     1561 gatctgtaaa taaaacttac atttttcaat aaaaaaaaaa aaaaaaaaaa aaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_005570. Homo sapiens lect...[gi:10862689] Links  


LOCUS       LMAN1                   2764 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.
ACCESSION   NM_005570
VERSION     NM_005570.2  GI:10862689
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2764)
  AUTHORS   Schindler,R., Itin,C., Zerial,M., Lottspeich,F. and Hauri,H.P.
  TITLE     ERGIC-53, a membrane protein of the ER-Golgi intermediate
            compartment, carries an ER retention motif
  JOURNAL   Eur. J. Cell Biol. 61 (1), 1-9 (1993)
  MEDLINE   94039195
   PUBMED   8223692
REFERENCE   2  (bases 1 to 2764)
  AUTHORS   Fiedler,K. and Simons,K.
  TITLE     A putative novel class of animal lectins in the secretory pathway
            homologous to leguminous lectins
  JOURNAL   Cell 77 (5), 625-626 (1994)
  MEDLINE   94265253
   PUBMED   8205612
REFERENCE   3  (bases 1 to 2764)
  AUTHORS   Arar,C., Carpentier,V., Le Caer,J.P., Monsigny,M., Legrand,A. and
            Roche,A.C.
  TITLE     ERGIC-53, a membrane protein of the endoplasmic reticulum-Golgi
            intermediate compartment, is identical to MR60, an intracellular
            mannose-specific lectin of myelomonocytic cells
  JOURNAL   J. Biol. Chem. 270 (8), 3551-3553 (1995)
  MEDLINE   95181303
   PUBMED   7876089
REFERENCE   4  (bases 1 to 2764)
  AUTHORS   Arar,C., Mignon,C., Mattei,M., Monsigny,M., Roche,A. and Legrand,A.
  TITLE     Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22
            by in situ hybridization
  JOURNAL   Mamm. Genome 7 (10), 791-792 (1996)
  MEDLINE   97007987
   PUBMED   8854877
REFERENCE   5  (bases 1 to 2764)
  AUTHORS   Neerman-Arbez,M., Antonarakis,S.E., Blouin,J.L., Zeinali,S.,
            Akhtari,M., Afshar,Y. and Tuddenham,E.G.
  TITLE     The locus for combined factor V-factor VIII deficiency (F5F8D) maps
            to 18q21, between D18S849 and D18S1103
  JOURNAL   Am. J. Hum. Genet. 61 (1), 143-150 (1997)
  MEDLINE   97388762
   PUBMED   9245995
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U09716.1 and X71661.1.
            On Oct 17, 2000 this sequence version replaced gi:5031872.
            Summary: The protein encoded by this gene is a type I integral
            membrane protein localized in the intermediate region between the
            endoplasmic reticulum and the Golgi, presumably recycling between
            the two compartments. The protein is a mannose-specific lectin and
            is a member of a novel family of plant lectin homologs in the
            secretory pathway of animal cells. Mutations in the gene are
            associated with a coagulation defect. Using positional cloning, the
            gene was identified as the disease gene leading to combined factor
            V-factor VIII deficiency, a rare, autosomal recessive disorder in
            which both coagulation factors V and VIII are diminished.
FEATURES             Location/Qualifiers
     source          1..2764
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.3-q22"
     gene            1..2764
                     /gene="LMAN1"
                     /note="ERGIC53; F5F8D; MCFD1; ERGIC-53; MR60; gp58"
                     /db_xref="LocusID:3998"
                     /db_xref="MIM:601567"
     CDS             21..1553
                     /gene="LMAN1"
                     /note="intracellular mannose specific lectin; endoplasmic
                     reticulum-golgi intermediate compartment protein 53"
                     /codon_start=1
                     /product="lectin, mannose-binding, 1 precursor"
                     /protein_id="NP_005561.1"
                     /db_xref="GI:5031873"
                     /db_xref="LocusID:3998"
                     /db_xref="MIM:601567"
                     /translation="MAGSRQRGLRARVRPLFCALLLSLGRFVRGDGVGGDPAVALPHR
                     RFEYKYSFKGPHLVQSDGTVPFWAHAGNAIPSSDQIRVAPSLKSQRGSVWTKTKAAFE
                     NWEVEVTFRVTGRGRIGADGLAIWYAENQGLEGPVFGSADLWNGVGIFFDSFDNDGKK
                     NNPAIVIIGNNGQIHYDHQNDGASQALASCQRDFRNKPYPVRAKITYYQNTLTVMINN
                     GFTPDKNDYEFCAKVENMIIPAQGHFGISAATGGLADDHDVLSFLTFQLTEPGKEPPT
                     PDKEISEKEKEKYQEEFEHFQQELDKKKEEFQKGHPDLQGQPAEEIFESVGDRELRQV
                     FEGQNRIHLEIKQLNRQLDMILDEQRRYVSSLTEEISKRGAGMPGQHGQITQQELDTV
                     VKTQHEILRQVNEMKNSMSETVRLVSGMQHPGSAGGVYETTQHFIDIKEHLHIVKRDI
                     DNLVQRNMPSNEKPKCPELPPFPSCLSTVHFIIFVVVQTVLFIGYIMYRSQQEAAAKK
                     FF"
     sig_peptide     21..110
                     /gene="LMAN1"
     mat_peptide     111..1550
                     /gene="LMAN1"
                     /product="lectin, mannose-binding, 1"
     variation       61
                     /gene="LMAN1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043302"
     variation       complement(1084)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3737392"
     variation       1574
                     /gene="LMAN1"
                     /allele="G"
                     /allele="T"
                     /db_xref="dbSNP:2298713"
     variation       2166
                     /gene="LMAN1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043319"
     variation       2310
                     /gene="LMAN1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1043320"
     variation       2687
                     /gene="LMAN1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1043325"
BASE COUNT      850 a    515 c    594 g    805 t
ORIGIN      
        1 ctctaaagct tagagccaag atggcgggat ccaggcaaag gggtctccgg gccagagttc
       61 ggccgctgtt ctgcgccttg ctgctgtcac tcggtcgctt cgtccggggc gacggcgtgg
      121 gaggagaccc cgcggtcgcg ttgccacatc gccgtttcga gtacaaatac agcttcaagg
      181 ggccgcacct ggtgcagagc gacgggaccg tgcccttctg ggcccacgcg gggaatgcta
      241 ttccaagttc agatcaaatt cgagtagcac catctttaaa aagccaaaga ggctcagtgt
      301 ggacaaagac aaaagcggcc tttgagaact gggaagttga ggtgacattt cgagtgactg
      361 gaagaggtcg aattggagct gatggcctag caatttggta tgcagaaaat caaggcttgg
      421 agggccctgt gtttggatca gctgatctgt ggaatggtgt tggaatattt tttgattctt
      481 ttgacaatga tggaaagaaa aataatcctg ctatagtaat tataggcaac aatggacaaa
      541 tccattatga ccatcaaaat gacggggcta gtcaagcttt ggcaagttgc cagagggact
      601 tccgcaacaa accctatcct gtccgagcaa agattaccta ttaccagaac acactgacag
      661 taatgatcaa taatggcttt acaccagata aaaatgatta tgaattttgt gccaaagtgg
      721 aaaatatgat tatccctgca caagggcatt ttggaatatc tgctgcaact ggaggtcttg
      781 cagatgacca tgatgtcctt tcttttctga ctttccagtt gactgaacct ggaaaagagc
      841 cgcccacacc agataaagaa atttcggaaa aggaaaaaga aaagtatcag gaggaatttg
      901 agcactttca acaagaattg gataaaaaaa aagaggaatt ccagaagggc caccccgacc
      961 tccaagggca gcctgcggag gaaatatttg agagtgtagg agatcgagag ctaagacaag
     1021 tctttgaagg acagaatcgt attcatcttg aaatcaagca gctgaaccgg cagttagata
     1081 tgattcttga tgaacagaga agatatgtct cttccttaac agaggaaatc tctaaaagag
     1141 gagcaggaat gcctgggcag catgggcaga ttactcaaca agaactggat actgttgtga
     1201 aaactcagca tgagattctg agacaagtaa atgaaatgaa aaattccatg agtgaaaccg
     1261 tcagactggt cagtggaatg cagcaccctg gctctgctgg aggcgtctat gagacaacac
     1321 agcacttcat tgacatcaaa gagcacctgc acatagtaaa gagggacata gataacttag
     1381 tgcagcgaaa tatgccatca aatgaaaagc cgaaatgccc agaactacca ccatttccat
     1441 catgtttgtc tacggtccac ttcattatat ttgttgtggt gcaaactgta ttattcattg
     1501 gttatatcat gtataggtct cagcaagaag cagctgccaa aaaattcttt tgactaccat
     1561 tttcctgtgt acttcatcta tttgtgtaca aaatgatgtc gttttgaggg aatttaagta
     1621 tttaaattgc ttcatagtct aaattattaa ttttcttaat aaaataactg tttaaacatt
     1681 gatttgcagt taagaataaa ccttaaagca aagacaacca cattttaatt tgttcacagt
     1741 atgtaaatct gtctaaattt cagtgaattt ctggtcagta tgatgcagcc tctgagcaga
     1801 tattgaccag taagagggta aataaagtgg gggcaacccc tggatatgaa tgttaccccc
     1861 taagtctcca atattgcagg tttccctgta taacgtaaac acacttgccc tcatgcctcc
     1921 cagaatatga ggtctaatta agaagtccca tcaggtttat tttgtaacca aagtcttttt
     1981 tagaggtcag acttcctaat caaaggcctg ggcctgcagt cctttcatct taatgcaact
     2041 tcctttgaaa tcaaagaata ttttgtctga gagctttaag gatctggtaa tagacttcaa
     2101 aatgttaagt gaaatttttt ttcctctatt tatcaatgat atatttcact tttaaaggaa
     2161 attttggagg aaaatatagc tgctttttgc ctaaaaaacc ttgtgggtgg aaatattcct
     2221 ctgagaatgg cttttatagg tattttgcct ggtaatgtat tcattcatga ttgcccatat
     2281 tcttgaatgt ttcttcattc caatggggtc aggtcaatat tatgaaaata atttttatat
     2341 ttatatttgt aactaagaat ttatttctcc ctttactaca cgatgtaaat tcacgtcaaa
     2401 ttcgatgatc tgaggattta aattcacaaa acctgccact acattctggt ttacattagt
     2461 tacttcatgc tggctggggt tagtgaccat ttgcatactc ttttaaatca aggaggctgt
     2521 agtagaggca gttttaagat tcttgaaggc aaaatttgaa aaacagtgaa tacttctaat
     2581 tgtttccttt tagtgccaga actaagacat tgtgaagcac ttgttagtaa acttaacctt
     2641 gaaatgtcag actggaagga gtttttatgt ctttgtgcat acttctgggt attacagaaa
     2701 cagtctgtaa ataacatttt aagatgcaaa tttaattctg ttcacagctg atttatactg
     2761 attt
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  







&&&&&&&&&

    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001643. Homo sapiens apol...[gi:4502148] Links  


LOCUS       APOA2                    473 bp    mRNA    linear   PRI 31-OCT-2000
DEFINITION  Homo sapiens apolipoprotein A-II (APOA2), mRNA.
ACCESSION   NM_001643
VERSION     NM_001643.1  GI:4502148
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 473)
  AUTHORS   Brewer HB Jr, Lux SE, Ronan R and John KM.
  TITLE     Amino acid sequence of human apoLp-Gln-II (apoA-II), an
            apolipoprotein isolated from the high-density lipoprotein complex
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 69 (5), 1304-1308 (1972)
  MEDLINE   72212652
   PUBMED   4338591
REFERENCE   2  (bases 1 to 473)
  AUTHORS   Sharpe CR, Sidoli A, Shelley CS, Lucero MA, Shoulders CC and
            Baralle FE.
  TITLE     Human apolipoproteins AI, AII, CII and CIII. cDNA sequences and
            mRNA abundance
  JOURNAL   Nucleic Acids Res. 12 (9), 3917-3932 (1984)
  MEDLINE   84221405
   PUBMED   6328445
REFERENCE   3  (bases 1 to 473)
  AUTHORS   Knott TJ, Priestley LM, Urdea M and Scott J.
  TITLE     Isolation and characterisation of a cDNA encoding the precursor for
            human apolipoprotein AII
  JOURNAL   Biochem. Biophys. Res. Commun. 120 (3), 734-740 (1984)
  MEDLINE   84231288
   PUBMED   6428397
REFERENCE   4  (bases 1 to 473)
  AUTHORS   Moore MN, Kao FT, Tsao YK and Chan L.
  TITLE     Human apolipoprotein A-II: nucleotide sequence of a cloned cDNA,
            and localization of its structural gene on human chromosome 1
  JOURNAL   Biochem. Biophys. Res. Commun. 123 (1), 1-7 (1984)
  MEDLINE   84307586
   PUBMED   6089788
REFERENCE   5  (bases 1 to 473)
  AUTHORS   Lackner KJ, Law SW and Brewer HB Jr.
  TITLE     Human apolipoprotein A-II: complete nucleic acid sequence of
            preproapo A-II
  JOURNAL   FEBS Lett. 175 (1), 159-164 (1984)
  MEDLINE   85004084
   PUBMED   6090207
REFERENCE   6  (bases 1 to 473)
  AUTHORS   Lackner,K.J., Law,S.W. and Brewer,H.B. Jr.
  TITLE     The human apolipoprotein A-II gene: complete nucleic acid sequence
            and genomic organization
  JOURNAL   Nucleic Acids Res. 13 (12), 4597-4608 (1985)
  MEDLINE   85242123
   PUBMED   2989800
REFERENCE   7  (bases 1 to 473)
  AUTHORS   Knott,T.J., Wallis,S.C., Robertson,M.E., Priestley,L.M., Urdea,M.,
            Rall,L.B. and Scott,J.
  TITLE     The human apolipoprotein AII gene: structural organization and
            sites of expression
  JOURNAL   Nucleic Acids Res. 13 (17), 6387-6398 (1985)
  MEDLINE   86016095
   PUBMED   2995928
REFERENCE   8  (bases 1 to 473)
  AUTHORS   Shelley CS, Sharpe CR, Baralle FE and Shoulders CC.
  TITLE     Comparison of the human apolipoprotein genes. Apo AII presents a
            unique functional intron-exon junction
  JOURNAL   J. Mol. Biol. 186 (1), 43-51 (1985)
  MEDLINE   86089113
   PUBMED   3935800
REFERENCE   9  (bases 1 to 473)
  AUTHORS   Tsao,Y.K., Wei,C.F., Robberson,D.L., Gotto,A.M. Jr. and Chan,L.
  TITLE     Isolation and characterization of the human apolipoprotein A-II
            gene. Electron microscopic analysis of RNA:DNA hybrids, nucleotide
            sequence, identification of a polymorphic MspI site, and general
            structural organization of apolipoprotein genes
  JOURNAL   J. Biol. Chem. 260 (28), 15222-15231 (1985)
  MEDLINE   86059375
   PUBMED   2415515
REFERENCE   10 (bases 1 to 473)
  AUTHORS   Chan,L., Moore,M.N. and Tsao,Y.K.
  TITLE     Molecular cloning and sequence analysis of human apolipoprotein
            A-II cDNA
  JOURNAL   Meth. Enzymol. 128, 745-752 (1986)
  MEDLINE   86256573
   PUBMED   3088392
REFERENCE   11 (bases 1 to 473)
  AUTHORS   Middleton-Price,H.R., van den Berghe,J.A., Scott,J., Knott,T.J. and
            Malcolm,S.
  TITLE     Regional chromosomal localisation of APOA2 to 1q21-1q23
  JOURNAL   Hum. Genet. 79 (3), 283-285 (1988)
  MEDLINE   88297714
   PUBMED   3136074
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X02619.1.
            Summary: Apolipoprotein (Apo-) A-II is the second most abundant
            protein of the high density lipoprotein particles. The apo-A-II
            gene consists of 4 exons and 3 introns.  The four exons encode the
            5' untranslated region, pre-peptide, a short N-terminal domain and
            a C-terminal domain composed of a variable number of lipid-binding
            amphipathic helices.  Familial apo-A-II deficiency may result from
            a splice-junction alteration which blocks splicing of intron 3 from
            the primary transcript and result the formation of a non-functional
            mRNA.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..473
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21-q23"
     gene            1..473
                     /gene="APOA2"
                     /db_xref="LocusID:336"
                     /db_xref="MIM:107670"
     CDS             59..361
                     /gene="APOA2"
                     /codon_start=1
                     /product="apolipoprotein A-II precursor"
                     /protein_id="NP_001634.1"
                     /db_xref="GI:4502149"
                     /db_xref="LocusID:336"
                     /db_xref="MIM:107670"
                     /translation="MKLLAATVLLLTICSLEGALVRRQAKEPCVESLVSQYFQTVTDY
                     GKDLMEKVKSPELQAEAKSYFEKSKEQLTPLIKKAGTELVNFLSYFVELGTQPATQ"
     sig_peptide     59..112
                     /gene="APOA2"
     mat_peptide     128..358
                     /gene="APOA2"
                     /product="apolipoprotein A-II"
     variation       114
                     /gene="APOA2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803090"
     variation       299
                     /gene="APOA2"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:12824"
     variation       305
                     /gene="APOA2"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:5088"
     polyA_signal    454..459
                     /gene="APOA2"
     polyA_site      473
                     /gene="APOA2"
BASE COUNT      123 a    137 c    116 g     97 t
ORIGIN      
        1 aggcacagac accaaggaca gagacgctgg ctaggccgcc ctccccactg ttaccaacat
       61 gaagctgctc gcagcaactg tgctactcct caccatctgc agccttgaag gagctttggt
      121 tcggagacag gcaaaggagc catgtgtgga gagcctggtt tctcagtact tccagaccgt
      181 gactgactat ggcaaggacc tgatggagaa ggtcaagagc ccagagcttc aggccgaggc
      241 caagtcttac tttgaaaagt caaaggagca gctgacaccc ctgatcaaga aggctggaac
      301 ggaactggtt aacttcttga gctatttcgt ggaacttgga acacagcctg ccacccagtg
      361 aagtgtccag accattgtct tccaacccca gctggcctct agaacaccca ctggccagtc
      421 ctagagctcc tgtccctacc cactctttgc tacaataaat gctgaatgaa tcc
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  




&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_030912. Homo sapiens trip...[gi:13569865] Links  


LOCUS       TRIM8                   2645 bp    mRNA    linear   PRI 11-JUN-2002
DEFINITION  Homo sapiens tripartite motif-containing 8 (TRIM8), mRNA.
ACCESSION   NM_030912
VERSION     NM_030912.1  GI:13569865
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2645)
  AUTHORS   Vincent,S.R., Kwasnicka,D.A. and Fretier,P.
  TITLE     A novel RING finger-B box-coiled-coil protein, GERP
  JOURNAL   Biochem. Biophys. Res. Commun. 279 (2), 482-486 (2000)
  MEDLINE   20568703
   PUBMED   11118312
REFERENCE   2  (bases 1 to 2645)
  AUTHORS   Reymond, A., Meroni, G., Fantozzi, A., Merla, G., Cairo, S., Luzi,
            L., Riganelli, D., Zanaria, E., Messali, S., Cainarca, S.,
            Guffanti, A., Minucci, S., Pelicci, P.G. and Ballabio, A.
  TITLE     The tripartite motif family identifies cell compartments
  JOURNAL   EMBO J. 20 (9), 2140-2151 (2001)
  MEDLINE   21231161
   PUBMED   11331580
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF281046.1.
            Summary: The protein encoded by this gene is a member of the
            tripartite motif (TRIM) family. The TRIM motif includes three
            zinc-binding domains, a RING, a B-box type 1 and a B-box type 2,
            and a coiled-coil region. This protein localizes to nuclear bodies.
            Its structure is similar to some tumor suppressor proteins and its
            gene maps to a locus thought to contain tumor suppressor genes.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2645
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.3"
     gene            1..2645
                     /gene="TRIM8"
                     /note="GERP; RNF27"
                     /db_xref="LocusID:81603"
                     /db_xref="MIM:606125"
     CDS             10..1665
                     /gene="TRIM8"
                     /note="tripartite motif protein TRIM8; glioblastoma
                     expressed ring finger protein; ring finger protein 27"
                     /codon_start=1
                     /product="tripartite motif-containing 8"
                     /protein_id="NP_112174.1"
                     /db_xref="GI:13569866"
                     /db_xref="LocusID:81603"
                     /db_xref="MIM:606125"
                     /db_xref="LocusID:81603"
                     /db_xref="MIM:606125"
                     /translation="MAENWKNCFEEELICPICLHVFVEPVQLPCKHNFCRGCIGEAWA
                     KDSGLVRCPECNQAYNQKPGLEKNLKLTNIVEKFNALHVEKPPAALHCVFCRRGPPLP
                     AQKVCLRCEAPCCQSHVQTHLQQPSTARGHLLVEADDVRAWSCPQHNAYRLYHCEAEQ
                     VAVCQYCCYYSGARQGHSVCDVEIRRNEIRKMLMKQQDRLEEREQDIEDQLYKLESDK
                     RLVEEKVNQLKEEVRLQYEKLHQLLDEDLRQTVEVLDKAQAKFCSENAAQALHLGERM
                     QEAKKLLGSLQLLFDKTEDVSFMKNTKSVKILMDRTQTCTSSSLSPTKIGHLNSKLFL
                     NEVAKKEKQLRKMLEGPFSTPVPFLQSVPLYPCGVSSSGAEKRKHSTAFPEASFLETS
                     SGPVGGQYGAAGTASGEGQSGQPLGPCSSTQHLVALPGGAQPVHSSPVFPPSQYPNGS
                     AAQQPMLPQYGGRKILVCSVDNCYCSSVANHGGHQPYPRSGHFPWTVPSQEYSHPLPP
                     TPSVPQSLPSLAVRDWLDASQQPGHQDFYRVYGQPSTKHYVTS"
     misc_feature    52..174
                     /gene="TRIM8"
                     /note="RING; Region: Ring finger"
                     /db_xref="CDD:smart00184"
     misc_feature    52..174
                     /gene="TRIM8"
                     /note="zf-C3HC4; Region: Zinc finger, C3HC4 type (RING
                     finger)"
                     /db_xref="CDD:pfam00097"
     misc_feature    553..750
                     /gene="TRIM8"
                     /note="Region: coiled-coil domain"
     misc_feature    556..768
                     /gene="TRIM8"
                     /note="filament; Region: Intermediate filament protein"
                     /db_xref="CDD:pfam00038"
     misc_feature    562..753
                     /gene="TRIM8"
                     /note="DUF164; Region: Uncharacterized ACR, COG1579"
                     /db_xref="CDD:pfam02591"
     misc_feature    568..762
                     /gene="TRIM8"
                     /note="SRP54_N; Region: SRP54-type protein, helical bundle
                     domain"
                     /db_xref="CDD:pfam02881"
     misc_feature    571..894
                     /gene="TRIM8"
                     /note="Myosin_tail; Region: Myosin tail"
                     /db_xref="CDD:pfam01576"
     misc_feature    571..783
                     /gene="TRIM8"
                     /note="V_ATPase_sub_a; Region: V-type ATPase 116kDa
                     subunit family"
                     /db_xref="CDD:pfam01496"
     misc_feature    574..780
                     /gene="TRIM8"
                     /note="BBC; Region: B-Box C-terminal domain"
                     /db_xref="CDD:smart00502"
     misc_feature    577..945
                     /gene="TRIM8"
                     /note="ERM; Region: Ezrin/radixin/moesin family"
                     /db_xref="CDD:pfam00769"
     misc_feature    577..858
                     /gene="TRIM8"
                     /note="ERM; Region: Ezrin/radixin/moesin family"
                     /db_xref="CDD:pfam00769"
     misc_feature    580..837
                     /gene="TRIM8"
                     /note="Tropomyosin"
                     /db_xref="CDD:pfam00261"
     misc_feature    586..1056
                     /gene="TRIM8"
                     /note="DUF164; Region: Uncharacterized ACR, COG1579"
                     /db_xref="CDD:pfam02591"
     misc_feature    589..927
                     /gene="TRIM8"
                     /note="ERM; Region: Ezrin/radixin/moesin family"
                     /db_xref="CDD:pfam00769"
     misc_feature    592..765
                     /gene="TRIM8"
                     /note="V_ATPase_sub_a; Region: V-type ATPase 116kDa
                     subunit family"
                     /db_xref="CDD:pfam01496"
     variation       775
                     /gene="TRIM8"
                     /allele="A"
                     /allele="T"
                     /db_xref="dbSNP:1063241"
     polyA_signal    2390..2395
                     /gene="TRIM8"
     polyA_signal    2400..2405
                     /gene="TRIM8"
     polyA_signal    2408..2413
                     /gene="TRIM8"
     polyA_site      2422
                     /gene="TRIM8"
                     /evidence=experimental
     polyA_signal    2606..2611
                     /gene="TRIM8"
     polyA_site      2628
                     /gene="TRIM8"
                     /evidence=experimental
BASE COUNT      569 a    807 c    731 g    538 t
ORIGIN      
        1 gcggccgcca tggcggagaa ttggaagaac tgcttcgagg aggagctcat ctgccctatc
       61 tgcctgcacg ttttcgtgga gccagtgcag ctgccgtgca aacacaactt ctgccggggc
      121 tgcatcggcg aggcgtgggc caaggacagc ggcctcgtac gctgcccaga gtgcaaccag
      181 gcctacaacc agaagccggg cctggagaag aacctgaagc tcaccaacat cgtggagaag
      241 ttcaatgccc tgcacgtgga gaagccgccg gcggcgctgc actgcgtgtt ctgccgccgc
      301 ggccccccgc tgcccgcgca gaaggtctgc ctgcgctgcg aggcgccctg ctgccagtcc
      361 cacgtgcaga cgcacctgca gcagccctcc accgcccgcg ggcacctcct ggtggaggcg
      421 gacgacgtgc gggcctggag ctgcccgcag cacaacgcct accgcctcta ccactgcgag
      481 gccgagcagg tggccgtgtg ccagtactgc tgctactaca gcggcgcgcg tcagggacac
      541 tcggtgtgcg acgtggagat ccgaaggaat gaaatccgga agatgctcat gaagcagcag
      601 gaccggctgg aggagcgaga gcaggacatt gaggaccagc tgtacaaact cgagtcagac
      661 aagcgcctgg tggaggagaa agtgaaccaa ctgaaggagg aagttcggct gcagtacgag
      721 aagctgcacc agctgctgga cgaggacctg cggcagacag tggaggtcct agacaaggcc
      781 caggccaagt tctgcagcga gaacgcagcg caggcgctgc acctcgggga gcgcatgcag
      841 gaggccaaga agctgctggg ctccctgcag ctgctctttg ataagacgga ggatgtcagc
      901 ttcatgaaga acaccaagtc tgtgaaaatc ctgatggaca ggacccagac ctgcacgagc
      961 agcagccttt cccccactaa gatcggccac ctgaactcca agctcttcct gaacgaagtg
     1021 gccaagaagg agaagcagct gcggaaaatg ctagaaggcc ccttcagcac gccggtgccc
     1081 ttcctgcaga gtgtccccct gtacccttgc ggcgtgagca gctctggggc ggaaaagcgc
     1141 aagcactcaa cggccttccc agaggccagt ttcctagaga cgtcgtcggg ccctgtgggc
     1201 ggccagtacg gggcggcggg cacagccagc ggtgagggcc agtctgggca gcccctgggg
     1261 ccctgcagct ccacgcagca cttggtggcc ctgccgggcg gcgcccaacc agtgcactca
     1321 agccccgtgt tccccccatc gcagtatccc aatggctccg ccgcccagca gcccatgctc
     1381 ccccagtatg gcggccgcaa gattctcgtc tgttctgtgg acaactgtta ctgttcttcc
     1441 gtggccaacc atggcggcca ccagccctac ccccgctccg gccactttcc ctggacagtg
     1501 ccctcgcagg agtactcaca cccgctcccg cccacaccct ccgtccccca gtcccttccc
     1561 agcctggcgg tcagagactg gcttgacgcc tcccagcagc ccggccacca ggatttctac
     1621 agggtgtatg ggcagccgtc caccaaacac tacgtgacga gctaacgcca cgcaggcggc
     1681 ggggcgctgg ggaatcttcc tccccagccc ccgggctcgg gagttatgca tccagagacc
     1741 tgcccttcta ccttcctcgc ctcccctctt cctcattcca ttgccccagg tcttttcctt
     1801 ttggattttg ttttggtttt ggctttgttt ttgatttttt tttattatga atctcctgga
     1861 cgcagaggtg acagtgggag ctggcctggg ccaggacggc aggtggccct ggagatggga
     1921 aagtgtctgt gtcgaggcgc tgagctctct ctctgtttct ccttttttcc tctactcctt
     1981 ccccttcaca cccccgtggc tggaaggaac ctcggcttcc ctgaaagctt gggggtccca
     2041 cccttcttac cccacccggg aggaacgccc agggccccgg gcttgtttct cctcttgttt
     2101 tccttttggg cagtttgatc actgatcgag taaggaatga cctttagatt gtgcgacttt
     2161 tgtttttgtt tttttaaatt tttttaaacc aagaatgatt tctcctgctt ccttctcctc
     2221 accatcttcc cagacggagt tcaaaggcca cttctcaagc agcttttggc accttcagcc
     2281 tcagagtgga atcttttaaa gacaggaccc ctatgtccag gaaaggggaa aaggaacttt
     2341 gccaatgata gtgaccacag caaaagcaaa taataataat attaataata ataaagagaa
     2401 ataaaataat aaaataaaaa acaatagcac agcccttgtt gaggtcagca gggaggaggg
     2461 gctgcccgga gttgggtcct tgcctggatt ttgacacagc aacttcctgt agtgagcact
     2521 ttgtatgaat cgtggacttc ctgttctcaa ggcgcaggta tttattctgt atctgtctag
     2581 cgcacacacc aaaatccaac cttctaataa acatgatggc gcagtcccaa aaaaaaaaaa
     2641 aaaaa
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_014604. Homo sapiens Tax ...[gi:11993942] Links  


LOCUS       TIP-1                   1451 bp    mRNA    linear   PRI 28-DEC-2000
DEFINITION  Homo sapiens Tax interaction protein 1 (TIP-1), mRNA.
ACCESSION   NM_014604
VERSION     NM_014604.1  GI:11993942
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1451)
  AUTHORS   Andersson B, Wentland MA, Ricafrente JY, Liu W and Gibbs RA.
  TITLE     A 'double adaptor' method for improved shotgun library construction
  JOURNAL   Anal. Biochem. 236 (1), 107-113 (1996)
  MEDLINE   96207227
   PUBMED   8619474
REFERENCE   2  (bases 1 to 1451)
  AUTHORS   Rousset,R., Fabre,S., Desbois,C., Bantignies,F. and Jalinot,P.
  TITLE     The C-terminus of the HTLV-1 Tax oncoprotein mediates interaction
            with the PDZ domain of cellular proteins
  JOURNAL   Oncogene 16 (5), 643-654 (1998)
  MEDLINE   98141214
   PUBMED   9482110
REFERENCE   3  (bases 1 to 1451)
  AUTHORS   Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G,
            Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA and
            Green ED.
  TITLE     The genomic region encompassing the nephropathic cystinosis gene
            (CTNS): complete sequencing of a 200-kb segment and discovery of a
            novel gene within the common cystinosis-causing deletion
  JOURNAL   Genome Res. 10 (2), 165-173 (2000)
  MEDLINE   20138496
   PUBMED   10673275
REFERENCE   4  (bases 1 to 1451)
  AUTHORS   Reynaud,C., Fabre,S. and Jalinot,P.
  TITLE     The PDZ protein TIP-1 interacts with the Rho effector rhotekin and
            is involved in Rho signaling to the serum response element
  JOURNAL   J. Biol. Chem. 275 (43), 33962-33968 (2000)
  MEDLINE   20517969
   PUBMED   10940294
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF028823.2.
FEATURES             Location/Qualifiers
     source          1..1451
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13"
                     /clone="1"
                     /cell_type="peripheral lymphocytes, EBV-immortalized"
     gene            1..1451
                     /gene="TIP-1"
                     /db_xref="LocusID:30851"
     CDS             157..531
                     /gene="TIP-1"
                     /note="TIP-1; interacts with Tax of HTLV-1; has PDZ
                     domain"
                     /codon_start=1
                     /product="Tax interaction protein 1"
                     /protein_id="NP_055419.1"
                     /db_xref="GI:11993943"
                     /db_xref="LocusID:30851"
                     /translation="MSYIPGQPVTAVVQRVEIHKLRQGENLILGFSIGGGIDQDPSQN
                     PFSEDKTDKGIYVTRVSEGGPAEIAGLQIGDKIMQVNGWDMTMVTHDQARKRLTKRSE
                     EVVRLLVTRQSLQKAVQQSMLS"
     misc_feature    241..483
                     /gene="TIP-1"
                     /note="PDZ; Region: PDZ domain (Also known as DHR or
                     GLGF)"
                     /db_xref="CDD:pfam00595"
     misc_feature    310..495
                     /gene="TIP-1"
                     /note="PDZ; Region: Domain present in PSD-95, Dlg, and
                     ZO-1/2."
                     /db_xref="CDD:PDZ"
     misc_feature    337..489
                     /gene="TIP-1"
                     /note="S2Pmetalloprt; Region: S2P metal dependent membrane
                     associated protease domain"
                     /db_xref="CDD:LOAD:S2Pmetalloprt"
     variation       complement(276)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:2272603"
     variation       276
                     /gene="TIP-1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:8278"
     variation       1253
                     /gene="TIP-1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1044804"
     variation       1286
                     /gene="TIP-1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1044809"
     variation       1305
                     /gene="TIP-1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1044811"
     variation       1335
                     /gene="TIP-1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1044824"
     variation       1341
                     /gene="TIP-1"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7093"
     variation       1360
                     /gene="TIP-1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1128098"
     variation       1360
                     /gene="TIP-1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3184670"
     variation       1364
                     /gene="TIP-1"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1128109"
BASE COUNT      331 a    408 c    396 g    316 t
ORIGIN      
        1 aggggcgctc cggccagtga ttggctggag gtttgttaac tattcatgag ggggcgggcc
       61 gagcggggcg gcctttgtta agcagcgagg gcgcgaccgc gggtactctg ctgccggctt
      121 ctcggagcgg cgctgggcga ccagagcagg gtcgagatgt cctacatccc gggccagccg
      181 gtcaccgccg tggtgcaaag agttgaaatt cacaagctgc gtcaaggtga gaacttaatc
      241 ctgggtttca gcattggagg tggaatcgac caggaccctt cccagaatcc cttctctgaa
      301 gacaagacgg acaagggtat ttatgtcaca cgggtgtctg aaggaggccc tgctgaaatc
      361 gctgggctgc agattggaga caagatcatg caggtgaacg gctgggacat gaccatggtc
      421 acacacgacc aggcccgcaa gcggctcacc aagcgctcgg aggaggtggt gcgtctgctg
      481 gtgacgcggc agtcgctgca gaaggccgtg cagcagtcca tgctgtccta gcagccacca
      541 ccatctgcga ctcctgcctg ccgcctctct gtacagtaac gccacttcca cactctgtcc
      601 ccatctggct tctgctgacc gctgggcccc agctcagaag ggctatagct ggtcccagag
      661 gcctggcctg gccttccttc ccttctccca tccctggcct ggggcctctg ggaccagctt
      721 tctctcctgg acaccgagga ttggaaataa gggcctggag ctgagtagta gccagtctgc
      781 tgtgaccaca ggctcaggtc cgaccctgct gcttggccac agcagtggct gggcaagtgg
      841 gaaccactat ctcttgggag cccccaaaag ctgggaaatg ctggaggaac caggcctttc
      901 ccgcttttgc ctggctgcag ggttcggctc cgcccctgcc ccccagccct cgtgtgtcca
      961 caccgcagtg cctctgcccc tcgggggact ggacacacat cctgccagag gcgctacgaa
     1021 gctttgccca gatgaagcca ggtgggctcc gcgttcactc ccactctccc gaggggtgct
     1081 ggcctcccca gggtttgcct tcttacggat ttagacgagg ttcgaggctc acctatcagg
     1141 gcagctctca ggattgtcat tttcctcttt gcctgtgggt ttaacttttg tattttttta
     1201 atcacaagtt tgatacaaaa tgtttttatc gtactctttg gagatgccca ttctactttt
     1261 gaatttagct tttactaatt cgcatctgga agctcagcaa gtgcacaagc cttactttgg
     1321 ttaccgtgga aaccactgcc gcccctcccc gatgtggtgc gctcaataaa aatgctggaa
     1381 ttcaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     1441 aaaaaaaaaa a
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 EST FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default        
 
 

1: AI678681. tu58f04.x1 NCI_CG...[gi:4888863] Links  


IDENTIFIERS

dbEST Id:       2578461
EST name:       tu58f04.x1
GenBank Acc:    AI678681
GenBank gi:     4888863

CLONE INFO
Clone Id:       IMAGE:2255263 (3')
Source:         NCI
Insert length:  3030
DNA type:       cDNA

PRIMERS
Sequencing:     -40UP from Gibco
PolyA Tail:     Unknown

SEQUENCE
                TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGGGAA
                GCAAAACTTTATTCCTTTTGGCTGGAAAAAAAAACTAGGGGGGGGTTGGGTACAGGACCC
                CCATCCCTCACCCCTCCCAAAACCAAAAAAAACAAGCAGGGCCCCCAAAGGGCTCCCTTT
                GCCCAAGTGAAAGCCCAAAGGTCANCGGTTGGCTGGGGAGGCAGGTTAACCCCAACCACG
                GCACAGGGCAGGGGCGGTTGCATTGACAGGCGGGCGGCCAGGGCGGCCCAGGGGCCGGGG
                TTGAGGGGAAAAGGGCGGGGCTTTTTGGTTAGCGGGGCAAGCTTGGGGGCTGCCGGTTGG
                CACGGGCCCCAAACTTAGGGCACCACAACCCGGTAGGGGCTGCCTGGGATGTGCTCGTCC
                CCCCATTTGACCACCAGGGTGTACTCCCCCTTGTCCTTGAGCAGGTAGGACACGCTGTAA
                AGCCGGTTGCCCACGTGCTTTACCAGGATCTCCTGGGAGGGGTCCTTGGGCCATGAACCC
                CCACCAACAAGAATGTGTTGCCTGCTTTGCTTGAAACTACTGGGAAGCTGCTTTTTTGGC
                CTAGGAGGGCTTTGCTAGCCCCAGCCCTTGGCCACCAACCTTGTTGCGTAGGAGGCCCCA
                GACCCCGGGCCCCATTTCCTGGGGGCCCCGGTGGGCCTTGGTCAGAGGTTAC
Quality:        High quality sequence stops at base: 352

Entry Created:  May 26 1999
Last Updated:   Dec 15 1999

COMMENTS
                Tissue Procurement: Christopher Moskaluk, M.D., Ph.D.,
                Michael R. Emmert-Buck, M.D., Ph.D.
                cDNA Library Preparation: Life Technologies, Inc.
                cDNA Library Arrayed by: Greg Lennon, Ph.D.
                DNA Sequencing by: Washington University Genome Sequencing
                Center
                Clone distribution: NCI-CGAP clone distribution information
                can be found through the I.M.A.G.E. Consortium/LLNL at:
                www-bio.llnl.gov/bbrp/image/image.html

PUTATIVE ID     Assigned by submitter
                gb:X53416 ENDOTHELIAL ACTIN-BINDING PROTEIN (HUMAN);

LIBRARY
Lib Name:       NCI_CGAP_Gas4
Organism:       Homo sapiens
Organ:          stomach
Tissue type:    poorly differentiated adenocarcinoma with signet ring cell
                features
Lab host:       DH10B
Vector:         pCMV-SPORT6
R. Site 1:      SalI
R. Site 2:      NotI
Description:    Cloned unidirectionally. Primer: Oligo dT. Average insert
                size 1.69 kb. Life Technologies catalog #: 11549-011

SUBMITTER
Name:           Robert Strausberg, Ph.D.
E-mail:         cgapbs-r@mail.nih.gov

CITATIONS
Title:          National Cancer Institute, Cancer Genome Anatomy Project
                (CGAP), Tumor Gene Index
Authors:        NCI-CGAP http://www.ncbi.nlm.nih.gov/ncicgap
Year:           1997
Status:         Unpublished


MAP DATA
--------------------------------------------------------------------------------



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

TaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  



&&&&&&&&&&


NM_020790  (not found in NCBI database)

&&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_006207. Homo sapiens plat...[gi:5453871] Links  


LOCUS       PDGFRL                  1502 bp    mRNA    linear   PRI 17-AUG-2001
DEFINITION  Homo sapiens platelet-derived growth factor receptor-like (PDGFRL),
            mRNA.
ACCESSION   NM_006207
VERSION     NM_006207.1  GI:5453871
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1502)
  AUTHORS   Fujiwara,Y., Ohata,H., Kuroki,T., Koyama,K., Tsuchiya,E., Monden,M.
            and Nakamura,Y.
  TITLE     Isolation of a candidate tumor suppressor gene on chromosome
            8p21.3-p22 that is homologous to an extracellular domain of the
            PDGF receptor beta gene
  JOURNAL   Oncogene 10 (5), 891-895 (1995)
  MEDLINE   95206781
   PUBMED   7898930
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D37965.1.
            Summary: This gene encodes a protein with significant sequence
            similarity to the ligand binding domain of platelet-derived growth
            factor receptor beta. Mutations in this gene, or deletion of a
            chromosomal segment containing this gene, are associated with
            sporadic hepatocellular carcinomas, colorectal cancers, and
            non-small cell lung cancers. This suggests this gene product may
            function as a tumor suppressor.
            COMPLETENESS: full length.
FEATURES             Location/Qualifiers
     source          1..1502
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22-p21.3"
     gene            1..1502
                     /gene="PDGFRL"
                     /note="PRLTS; PDGRL"
                     /db_xref="LocusID:5157"
                     /db_xref="MIM:604584"
     CDS             62..1189
                     /gene="PDGFRL"
                     /note="platelet-derived growth factor-beta-like tumor
                     suppressor"
                     /codon_start=1
                     /product="platelet-derived growth factor receptor-like
                     protein"
                     /protein_id="NP_006198.1"
                     /db_xref="GI:5453872"
                     /db_xref="LocusID:5157"
                     /db_xref="MIM:604584"
                     /db_xref="LocusID:5157"
                     /db_xref="MIM:604584"
                     /translation="MKVWLLLGLLLVHEALEDVTGQHLPKNKRPKEPGENRIKPTNKK
                     VKPKIPKMKDRDSANSAPKTQSIMMQVLDKGRFQKPAATLSLLAGQTVELRCKGSRIG
                     WSYPAYLDTFKDSRLSVKQNERYGQLTLVNSTSADTGEFSCWVQLCSGYICRKDEAKT
                     GSTYIFFTEKGELFVPSPSYFDVVYLNPDRQAVVPCRVTVLSAKVTLHREFPAKEIPA
                     NGTDIVYDMKRGFVYLQPHSEHQGVVYCRAEAGGRSQISVKYQLLYVAVPSGPPSTTI
                     LASSNKVKSGDDISVLCTVLGEPDVEVEFTWIFPGQKDERPVTIQDTWRLIHRGLGHT
                     TRISQSVITVEDFETIDAGYYICTAQNLQGQTTVATTVEFS"
     misc_feature    308..496
                     /gene="PDGFRL"
                     /note="IG; Region: Immunoglobulin"
                     /db_xref="CDD:smart00409"
     misc_feature    908..1180
                     /gene="PDGFRL"
                     /note="IG; Region: Immunoglobulin"
                     /db_xref="CDD:smart00409"
     misc_feature    914..1144
                     /gene="PDGFRL"
                     /note="IGc2; Region: Immunoglobulin C-2 Type"
                     /db_xref="CDD:smart00408"
     variation       853
                     /gene="PDGFRL"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2229084"
     variation       1102
                     /gene="PDGFRL"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:4705"
     polyA_signal    1475..1480
                     /gene="PDGFRL"
     polyA_site      1502
                     /gene="PDGFRL"
BASE COUNT      392 a    383 c    379 g    348 t
ORIGIN      
        1 cctgcgtccc cgccccgcgc agccgccgcg ctcctgcgct ccgaggtccg aggttcccga
       61 gatgaaggtc tggctgctgc ttggtcttct gctggtgcac gaagcgctgg aggatgttac
      121 tggccaacac cttcccaaga acaagcgtcc aaaagaacca ggagagaata gaatcaaacc
      181 taccaacaag aaggtgaagc ccaaaattcc taaaatgaag gacagggact cagccaattc
      241 agcaccaaag acgcagtcta tcatgatgca agtgctggat aaaggtcgct tccagaaacc
      301 cgccgctacc ctgagtctgc tggcggggca aactgtagag cttcgatgta aagggagtag
      361 aattgggtgg agctaccctg cgtatctgga cacctttaag gattctcgcc tcagcgtcaa
      421 gcagaatgag cgctacggcc agttgactct ggtcaactcc acctcggcag acacaggtga
      481 attcagctgc tgggtgcagc tctgcagcgg ctacatctgc aggaaggacg aggccaaaac
      541 gggctccacc tacatctttt ttacagagaa aggagaactc tttgtacctt ctcccagcta
      601 cttcgatgtt gtctacttga acccggacag acaggctgtg gttccttgtc gggtgaccgt
      661 gctgtcggcc aaagtcacgc tccacaggga attcccagcc aaggagatcc cagccaatgg
      721 aacggacatt gtttatgaca tgaagcgggg ctttgtgtat ctgcaacctc attccgagca
      781 ccagggtgtg gtttactgca gggcggaggc cgggggcaga tctcagatct ccgtcaagta
      841 ccagctgctc tacgtggcgg ttcccagtgg ccctccctca acaaccatct tggcttcttc
      901 aaacaaagtg aaaagtgggg acgacatcag tgtgctctgc actgtcctgg gggagcccga
      961 tgtggaggtg gagttcacct ggatcttccc agggcagaag gatgaaaggc ctgtgacgat
     1021 ccaagacact tggaggttga tccacagagg actgggacac accacgagaa tctcccagag
     1081 tgtcattaca gtggaagact tcgagacgat tgatgcagga tattacattt gcactgctca
     1141 gaatcttcaa ggacagacca cagtagctac cactgttgag ttttcctgac ttggaaaagg
     1201 aaatgtaatg aacttatgga aagcccattt gtgtacacag tcagctttgg ggttcctttt
     1261 attagtgctt tgccagaggc tgatgtcaag caccacaccc caaccccagc gtctcgtgag
     1321 tccgacccag acatccaaac taaaaggaag tcatccagtc tattcacaga agtgttaact
     1381 tttctaacag aaagcatgat tttgattgct tacctacata cgtgttccta gtttttatac
     1441 atgtgtaaac aattttatat aatcaatcat ttctattaaa tgagcacgtt tttgtaaaaa
     1501 at
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  




&&&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_014933. Homo sapiens yeas...[gi:7662369] Links  


LOCUS       KIAA0905                4129 bp    mRNA    linear   PRI 14-MAY-2002
DEFINITION  Homo sapiens yeast Sec31p homolog (KIAA0905), mRNA.
ACCESSION   NM_014933
VERSION     NM_014933.1  GI:7662369
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4129)
  AUTHORS   Noguchi,J. and Shibata,M.
  TITLE     The yeast web1-like human protein that has WD repeat domain(long)
  JOURNAL   Published Only in DataBase (1999) In press
REFERENCE   2  (bases 1 to 4129)
  AUTHORS   Tang,B.L., Zhang,T., Low,D.Y., Wong,E.T., Horstmann,H. and Hong,W.
  TITLE     Mammalian homologues of yeast sec31p. An ubiquitously expressed
            form is localized to endoplasmic reticulum (ER) exit sites and is
            essential for ER-Golgi transport
  JOURNAL   J. Biol. Chem. 275 (18), 13597-13604 (2000)
  MEDLINE   20250918
   PUBMED   10788476
REFERENCE   3  (bases 1 to 4129)
  AUTHORS   Kim,J.H., Hong,J.A., Pih,K.T. and Hwang,I.
  TITLE     Identification and isolation of differentially expressed genes in
            osmotically stressed human oral keratinocytes
  JOURNAL   Arch. Oral Biol. 46 (4), 335-341 (2001)
  MEDLINE   21170089
   PUBMED   11269867
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AB018359.1.
FEATURES             Location/Qualifiers
     source          1..4129
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.22"
                     /tissue_type="spleen"
     gene            1..4129
                     /gene="KIAA0905"
                     /note="ABP125; ABP130"
                     /db_xref="LocusID:22872"
     CDS             54..3716
                     /gene="KIAA0905"
                     /note="This sequence is the alternative splicing product
                     of ABP125. The sequence 1563bp-1677bp of ABP130 is deleted
                     in ABP125."
                     /codon_start=1
                     /product="yeast Sec31p homolog"
                     /protein_id="NP_055748.1"
                     /db_xref="GI:7662370"
                     /db_xref="LocusID:22872"
                     /translation="MKLKEVDRTAMQAWSPAQNHPIYLATGTSAQQLDATFSTNASLE
                     IFELDLSDPSLDMKSCATFSSSHRYHKLIWGPYKMDSKGDVSGVLIAGGENGNIILYD
                     PSKIIAGDKEVVIAQNDKHTGPVRALDVNIFQTNLVASGANESEIYIWDLNNFATPMT
                     PGAKTQPPEDISCIAWNRQVQHILASASPSGRATVWDLRKNEPIIKVSDHSNRMHCSG
                     LAWHPDVATQMVLASEDDRLPVIQMWDLRFASSPLRVLENHARGILAIAWSMADPELL
                     LSCGKDAKILCSNPNTGEVLYELPTNTQWCFDIQWCPRNPAVLSAASFDGRISVYSIM
                     GGSTDGLRQKQVDKLSSSFGNLDPFGTGQPLPPLQIPQQTAQHSIVLPLKKPPKWIRR
                     PVGASFSFGGKLVTFENVRMPSHQGAEQQQQQHHVFISQVVTEKEFLSRSDQLQQAVQ
                     SQGFINYCQKKIDASQTEFEKNVWSFLKVNFEDDSRGKYLELLGYRKEDLGKKIALAL
                     NKVDGANVALKDSDQVAQSDGEESPAAEEQLLGEHIKEEKEESEFLPSSGGTFNISVS
                     GDIDGLITQALLTGNFESAVDLCLHDNRMADAIILAIAGGQELLARTQKKYFAKSQSK
                     ITRLITAVVMKNWKEIVESCDLKNWREALAAVLTYAKPDEFSALCDLLGTRLENEGDS
                     LLQTQACLCYICAGNVEKLVACWTKAQDGSHPLSLQDLIEKVVILRKAVQLTQAMDTS
                     TVGVLLAAKMSQYANLLAAQGSIAAALAFLPDNTNQPNIMQLRDRLCRAQGEPVAGHE
                     SPKIPYEKQQLPKGRPGPVAGHHQMPRVQTQQYYPHGENPPPPGFIMHGNVNPNASGQ
                     LPTSPGHMHTQVPPYPQPQPYQPAQPYPFGTGGSAMYRPQQPVAPPTSNAYPNTPYIS
                     SASSYTGQSQLYAAQHQASSPTSSPATSFPPPPSSGASFQHGGPGAPPSSSAYALPPG
                     TTGTLPAASELPASQRTGPQNGWNDPPALNRVPKKKKMPENFMPPVPITSPIMNPLGD
                     PQSQMLQQQPSAPVPLSSQSSFPQPHLPGGQPFHGVQQPLGQTGMPPSFSKPNIEGAP
                     GAPIGNTFQHVQSLPTKKITKKPIPDEHLILKTTFEDLIQRCLSSATDPQTKRKLDDA
                     SKRLEFLYDKLREQTLSPTITSGLHNIARSIETRNYSEGLTMHTHIVSTSNFSETSAF
                     MPVLKVVLTQANKLGV"
     variation       complement(1421)
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3797036"
     variation       3315
                     /gene="KIAA0905"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3188836"
     polyA_signal    4112..4116
                     /gene="KIAA0905"
     polyA_site      4129
                     /gene="KIAA0905"
                     /note="12 A nucleotides"
BASE COUNT     1162 a    997 c    883 g   1087 t
ORIGIN      
        1 gacgagcgct gcactaacgc aggatccggc tgccgaaggt cctcgccagc aggatgaagt
       61 taaaggaagt agatcgtaca gccatgcagg catggagccc tgcccagaat caccccattt
      121 acctagcaac aggaacatct gctcagcaat tggatgcaac atttagtacg aatgcttccc
      181 ttgagatatt tgaattagac ctctctgatc catccttgga tatgaaatct tgtgccacat
      241 tctcctcttc tcacaggtac cacaagttga tttgggggcc ttataaaatg gattccaaag
      301 gagatgtctc tggagttctg attgcaggtg gtgaaaatgg aaatattatt ctctatgatc
      361 cttctaaaat tatagctgga gacaaggaag ttgtgattgc ccagaatgac aagcatactg
      421 gcccagtgag agccttggat gtgaacattt tccagactaa tctggtagct tctggtgcta
      481 atgaatctga aatctacata tgggatctaa ataattttgc aaccccaatg acaccaggag
      541 ccaaaacaca gccgccagaa gatatcagct gcattgcatg gaacagacaa gttcagcata
      601 ttttagcatc agccagtccc agtggccggg ccactgtatg ggatcttaga aaaaatgagc
      661 caatcatcaa agtcagtgac catagtaaca gaatgcattg ttctgggttg gcatggcatc
      721 ctgatgttgc tactcagatg gtccttgcct ccgaggatga ccggttacca gtgatccaga
      781 tgtgggatct tcgatttgct tcctctccac ttcgtgtcct ggaaaaccat gccaggggga
      841 ttttggcaat tgcttggagc atggcagatc ctgaattgtt actgagctgt ggaaaagatg
      901 ctaagattct ctgctccaat ccaaacacag gagaggtgtt atatgaactt cccaccaaca
      961 cacagtggtg cttcgatatt cagtggtgtc cccgaaatcc tgctgtctta tcagctgctt
     1021 cgtttgatgg gcgtatcagt gtttattcta tcatgggagg aagcacagat ggtttaagac
     1081 agaaacaagt tgacaagctt tcatcatctt ttgggaatct tgatcccttt ggcacaggac
     1141 agccccttcc tccgttacaa attccacagc agactgctca gcatagtata gtgctgcctc
     1201 tgaagaagcc gcccaagtgg attcgaaggc ctgttggtgc ttctttttca tttggaggca
     1261 aactggttac gtttgagaat gtcagaatgc cttctcatca gggagctgag cagcagcagc
     1321 agcagcacca tgtgttcatt agtcaggttg taacagaaaa ggagttcctc agccgatcag
     1381 accaacttca gcaggctgtg cagtcacaag gatttatcaa ttattgccaa aaaaaaattg
     1441 atgcttctca gactgaattt gagaaaaatg tgtggtcctt tttgaaggta aactttgagg
     1501 atgattctcg tggaaaatac cttgaacttc taggatacag aaaagaagat ctaggaaaga
     1561 agattgcttt ggccttgaac aaagtggatg gagccaatgt ggctcttaaa gactctgacc
     1621 aagtagcaca gagtgatggg gaggagagcc ctgctgctga agagcagctc ttgggagagc
     1681 acattaaaga ggaaaaagaa gaatctgaat ttctaccctc atctggagga acatttaata
     1741 tctctgtcag tggggacatt gatggtttaa ttactcaggc tttgctgacg ggcaattttg
     1801 agagtgctgt tgacctttgt ttacatgata accgcatggc cgatgccatt atattggcca
     1861 tagcaggtgg acaagaactc ttggctcgaa cccagaaaaa atacttcgca aaatcccaaa
     1921 gcaaaattac caggctcatc actgcagtgg tgatgaagaa ctggaaagag attgttgagt
     1981 cttgtgatct taaaaattgg agagaggctt tagctgcagt attgacttat gcaaagccgg
     2041 atgaattttc agccctttgt gatcttttgg gaaccaggct tgaaaatgaa ggagatagcc
     2101 tcctgcagac tcaagcatgt ctctgctata tttgtgcagg gaatgtagag aaattagttg
     2161 catgttggac taaagctcaa gatggaagcc accctttgtc acttcaggat ctgattgaga
     2221 aagttgtcat cctgcgaaaa gctgtgcaac tcactcaagc catggacact agtactgtag
     2281 gagttctctt ggctgcgaag atgagtcagt atgccaattt gttggcagct cagggcagta
     2341 ttgctgcagc cttggctttt cttcctgaca acaccaacca gccaaatatc atgcagcttc
     2401 gtgacagact ttgtagagca caaggagagc ctgtagcagg acatgaatca cctaaaattc
     2461 cgtacgagaa acagcagctc cccaagggca ggcctggacc agttgctggc caccaccaga
     2521 tgccaagagt tcaaactcaa caatattatc cccatggaga aaatcctcca cctccgggtt
     2581 tcataatgca tggaaatgtt aatccaaatg cttctggtca gcttcccaca tctccaggtc
     2641 atatgcacac ccaggtacca ccttatccac agccacagcc ttatcaacca gcccagccgt
     2701 atcccttcgg aacagggggg tcagcaatgt atcgacctca gcagcctgtt gctcctccta
     2761 cttcaaacgc ttaccctaac accccttaca tatcttctgc ttcttcctat actgggcagt
     2821 ctcagctgta cgcagcacag caccaggcct cttcacctac ctccagccct gctacttctt
     2881 tccctcctcc cccttcctct ggagcatcct tccagcatgg cggaccagga gctccaccat
     2941 catcttcagc ttatgcactg cctcctggaa caacaggtac actgcctgct gccagtgagc
     3001 tgcctgcgtc ccaaagaaca ggtcctcaga atggttggaa tgaccctcca gctttgaaca
     3061 gagtacccaa aaagaagaag atgcctgaaa acttcatgcc tcctgttccc atcacatcac
     3121 caatcatgaa cccgttgggt gacccccagt cacaaatgct gcagcaacag ccttcagctc
     3181 cagtaccact gtcaagccag tcttcattcc cacagccaca tcttccaggt ggccagccct
     3241 tccatggcgt acagcaacct cttggtcaaa caggcatgcc accatctttt tcaaagccca
     3301 atattgaagg tgccccaggg gctcctattg gaaatacctt ccagcatgtg cagtctttgc
     3361 caacaaaaaa aattaccaag aaacctattc cagatgagca cctcattcta aagaccacat
     3421 ttgaggatct tattcagcgc tgcctttctt cagcaacaga ccctcaaacc aagaggaagc
     3481 tagatgatgc cagcaaacgt ttggagtttc tgtatgataa acttagggaa cagacacttt
     3541 caccaacaat caccagtggt ttacacaaca ttgcaaggag cattgaaact cgaaactact
     3601 cagaaggatt gaccatgcat acccacatag ttagcaccag caacttcagt gagacctctg
     3661 ctttcatgcc agttctcaaa gttgttctca cccaggccaa taagctgggt gtctaaaagg
     3721 acagcttctc ttccactcaa tattgccatt tttccaaaga aacatgttaa aaaaaaaaat
     3781 tataagacat ggactagtcc tcattagcat gtttgcatag caaccagtca agagcattta
     3841 cactatttct gctgatatac tcaccttaga actgctcaga accctggtgc tttatttttg
     3901 ttttaatctt ttgttgccag tgatgatttt cctattctgc aaatagtgta tttcctggat
     3961 tacacatagt atggtttcct gaagtattct gataaatgtg tttttttaaa acctcaatat
     4021 actttttaga aaaggagcat ctggttatgc ataaagcaga gctaaaacta aatttctttc
     4081 atgtcctccc tacttcctca gtgtcaatca gattaaagtg tgtaatcct
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  





    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_032849. Homo sapiens hypo...[gi:21361885] Links  


LOCUS       FLJ14834                2342 bp    mRNA    linear   PRI 10-JUN-2002
DEFINITION  Homo sapiens hypothetical protein FLJ14834 (FLJ14834), mRNA.
ACCESSION   NM_032849
VERSION     NM_032849.2  GI:21361885
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2342)
  AUTHORS   Isogai,T., Otsuki,T. and Sugiyama,T.
  TITLE     Homo sapiens hypothetical protein FLJ14834 (FLJ14834), mRNA
  JOURNAL   Unpublished (2001)
COMMENT     PREDICTED REFSEQ: The mRNA record is supported by experimental
            evidence; however, the coding sequence is predicted. The reference
            sequence was derived from AK055635.1.
            On Jun 10, 2002 this sequence version replaced gi:14249571.
FEATURES             Location/Qualifiers
     source          1..2342
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.3"
                     /clone="HSYRA2001420"
                     /cell_type="synoviocytes from rtheumatioid arthritis
                     (HS-RA)"
                     /clone_lib="HSYRA2"
                     /note="cloning vector: pME18SFL3~primary culture,
                     synoviocytes from rtheumatioid arthritis"
     gene            1..2342
                     /gene="FLJ14834"
                     /db_xref="LocusID:84935"
     CDS             326..1237
                     /gene="FLJ14834"
                     /codon_start=1
                     /evidence=not_experimental
                     /product="hypothetical protein FLJ14834"
                     /protein_id="NP_116238.2"
                     /db_xref="GI:21361886"
                     /db_xref="LocusID:84935"
                     /translation="MAGAACEPVARPSLTSISSGELRSLWTCDCELALLPLAQLLRLQ
                     PGAFQLSGDQLVVAGPGEPAAARGGFNVFGDGLVRLDGQLYRLSSYIKRYVELTNYCD
                     YKDYRETILSKPMLFFINVQTKKDTSKERTYAFLVNTRHPKIRRQIEQGMDMVISSVI
                     GESYRLQFDFQEAVKNFFPPGNEVVNGENLSFAYEFKADALFDFFYWFGLSNSVVKVN
                     GKVLNLSSTSPEKKETIKLFLEKMSEPLIRRSSFSDRKFSVTSRGSIDDVFNCNLSPR
                     SSLTEPLLAELPFPSVLESEETPNQFI"
     variation       complement(2059)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12894"
     variation       complement(2285)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:10742"
BASE COUNT      575 a    570 c    632 g    565 t
ORIGIN      
        1 ctggggtcgt ggccgtgggc cggcaggggc gaggcgggcg tccggagggc ggataaaagg
       61 ggccgcgctg cgccggggcc gctttctccg cgcggtgcct gcagggctcc cagcgagtgg
      121 cagcttggga ggggccgccc gggcggtcag actggcacct gagcggccac cgcgtcccgg
      181 ccaggcgggc agaccgaccc cctcctcacc tcgcgcgcgg ctgacgcagg cagggcgccc
      241 ggcccctcct ggggaccatc aggtgccggc tgggggctgt aggcaccgga cggaagcagg
      301 cggtgtgagg accgacgacg cgggcatggc gggggcggcc tgcgagccgg tggccaggcc
      361 gagcctgacc tccatctcgt ctggggagct tcgcagcctg tggacctgcg actgcgagct
      421 ggccctgctg ccgctggctc agctgctgcg cctgcagccc ggtgccttcc agctgagcgg
      481 cgaccagctc gtggtggccg ggcccgggga gccggcggcg gcgcgggggg gcttcaacgt
      541 cttcggtgac ggcctcgtgc gcctcgacgg gcagctctac cgcctcagca gctacatcaa
      601 gaggtatgtg gaactgacca actactgtga ttataaagac tacagggaaa ctatattgag
      661 caaaccaatg ttgttcttta ttaatgtaca gaccaaaaaa gacacctcaa aagaaaggac
      721 gtacgcgttt cttgtaaaca cgaggcaccc caagataaga agacagatag agcaagggat
      781 ggacatggtc atctcctcag tgattggaga aagttaccgg cttcagtttg attttcaaga
      841 ggcagtgaag aatttcttcc ccccaggaaa tgaagtggtt aatggagaaa atttaagctt
      901 tgcatatgaa ttcaaagctg atgcattatt tgatttcttc tattggttcg ggctcagtaa
      961 ttccgttgta aaagtaaatg gaaaagttct gaatttgtca agtacaagtc cagaaaagaa
     1021 ggagacgatt aagttatttc tggaaaaaat gagtgagcct ttaatccgaa ggagcagttt
     1081 ctctgaccga aagttcagtg taacttccag aggttcaata gatgatgttt ttaactgcaa
     1141 tctgtcaccc agatcatctc tgacagagcc tcttttggca gaattaccat ttccaagtgt
     1201 tctggaatct gaagagacac ccaaccaatt tatctgattg aactgaacat tgtagcagtt
     1261 gctcccgcac tccaggcctg tgctagacta taggctgggg ggagggtagg aggtgggagg
     1321 cagatacttc cacctgcgtg tcaatctccg gctcctccat ggcttctatg gaggactcct
     1381 ctcttctgct tctgtggatg tgatgccctg gcaggcccag ggcagctgat tcccctaaaa
     1441 cttatgatta ccaggatgga aaggccttgg tcccatggca ctgggtgggg ctgggggata
     1501 ttctctactt tgaacacttc tccaaagagg cagaagggcc acagagttct gccaccctga
     1561 acatttttct cagttccctg ggagtttttg tggcagcctt tgtgggagtg gtctgactgg
     1621 ctgttgacct agcatgcttc ataaatcagg gtttggccct ctgcttggag catccaaccc
     1681 cttgaactca aacctgtcga gcaaggggtt aagagttctg ttctcttgcc aacctggctg
     1741 ggcaaaagcc tgtgccatct ttcactggga ggcaaatatg tttttcatcc tgccatatga
     1801 cacctatgag aaacgttcac agtgaggagt agccaggttg ctaggacagt aaccctgcca
     1861 cacactgcct gaaatcggaa ctcccttggc ctccctctta actaagtgac ccatgtagaa
     1921 ggaagccagg agatatggta ccgaacaatg acaggggaag ggtattggac acggcagcgt
     1981 cctccttatt gaaaacacat tatgtcagtt gggaatttta aataagcttt tagcaaacct
     2041 aacactaaaa gcaaaataga agaaagctat accattacca taatacattt ttcatctcat
     2101 ggctacaatg gaattcttga aaaggaaaaa aaatcctatc tacatataaa aacctgcatg
     2161 aatgaatcac tacatatgct tataatgagg aagagttatg ggtcctgagt gtaatttttt
     2221 atcctttctt aaaaagtttc tgtattatgc attttgataa cactactgat gatccttcca
     2281 cttatatttg aaatgttatg taccacattt gcacaattaa aacttttctt agcgttcaac
     2341 ct
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerProteinProteinSNPSNPTaxonomyTaxonomyUniGeneUniGeneLinkOutLinkOutHelpHelp  




&&&&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_004394. Homo sapiens deat...[gi:4758119] Links  


LOCUS       DAP                     2232 bp    mRNA    linear   PRI 01-NOV-2000
DEFINITION  Homo sapiens death-associated protein (DAP), mRNA.
ACCESSION   NM_004394
VERSION     NM_004394.1  GI:4758119
KEYWORDS    .
SOURCE      Homo sapiens
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2232)
  AUTHORS   Deiss,L.P., Feinstein,E., Berissi,H., Cohen,O. and Kimchi,A.
  TITLE     Identification of a novel serine/threonine kinase and a novel 15-kD
            protein as potential mediators of the gamma interferon-induced cell
            death
  JOURNAL   Genes Dev. 9 (1), 15-30 (1995)
  MEDLINE   95129831
   PUBMED   7828849
REFERENCE   2  (bases 1 to 2232)
  AUTHORS   Feinstein,E., Druck,T., Kastury,K., Berissi,H., Goodart,S.A.,
            Overhauser,J., Kimchi,A. and Huebner,K.
  TITLE     Assignment of DAP1 and DAPK--genes that positively mediate
            programmed cell death triggered by IFN-gamma--to chromosome regions
            5p12.2 and 9q34.1, respectively
  JOURNAL   Genomics 29 (1), 305-307 (1995)
  MEDLINE   96079132
   PUBMED   8530096
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from X76105.1.
            Summary: DAP gene encodes a basic, proline-rich, 15-kD protein.
            Death-associated protein acts as a positive mediator of programmed
            cell death that is induced by interferon-gamma.
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2232
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.2"
     gene            1..2232
                     /gene="DAP"
                     /db_xref="LocusID:1611"
                     /db_xref="MIM:600954"
     CDS             160..468
                     /gene="DAP"
                     /codon_start=1
                     /product="death-associated protein"
                     /protein_id="NP_004385.1"
                     /db_xref="GI:4758120"
                     /db_xref="LocusID:1611"
                     /db_xref="MIM:600954"
                     /translation="MSSPPEGKLETKAGHPPAVKAGGMRIVQKHPHTGDTKEEKDKDD
                     QEWESPSPPKPTVFISGVIARGDKDFPPAAAQVAHQKPHASMDKHPSPRTQHIQQPRK
                     "
     variation       887
                     /gene="DAP"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:10271"
     variation       complement(1089)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:9857"
     variation       complement(1089)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3733766"
     variation       complement(1145)
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3733765"
     variation       complement(1149)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3733764"
     variation       1149
                     /gene="DAP"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1049344"
     variation       complement(1164)
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3733763"
     variation       complement(1811)
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3797110"
     variation       complement(1883)
                     /allele="-"
                     /allele="G"
                     /db_xref="dbSNP:3839211"
     variation       1890
                     /gene="DAP"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:7973"
     polyA_signal    2203..2208
                     /gene="DAP"
BASE COUNT      542 a    648 c    568 g    474 t
ORIGIN      
        1 cgtggcactc acccggctcg cgcggccccg gccgcccacg ccgcgcgtcg ttctcccgcc
       61 cgctcgctcc ccggcgctca cacctgagct cactcgcgca cgcccgcccg gcccgagaac
      121 cgcgccgccg cctcggcccc gcggaagccc cgccgcgcca tgtcttcgcc tcccgaaggg
      181 aaactagaga ctaaagctgg acacccgccc gccgtgaaag ctggtggaat gcgaattgtg
      241 cagaaacacc cacatacagg agacaccaaa gaagagaaag acaaggatga ccaggaatgg
      301 gaaagcccca gtccacctaa acccactgtg ttcatctctg gggtcatcgc ccggggtgac
      361 aaagatttcc ccccggcggc tgcgcaggtg gctcaccaga agccgcatgc ctccatggac
      421 aagcatcctt ccccaagaac ccagcacatc cagcagccac gcaagtgagc ctggagtcca
      481 ccagcctgcc ccatggcccc ggctctgctg cacttggtat ttccctgaca gagagaacca
      541 gcagtttcgc ccaaatccta ctctgctggg aaatctaagg caaaaccaag tgctctgtcc
      601 tttgccttac atttccatat ttaaaactag aaacagcttc agcccaaacc ttgtttatgg
      661 ggagtctggt tggatgtcat ttgaggatca ttgtgcccct agaggtgcca ttagcagaat
      721 ttgccaagat ccgagaaaaa ttttagcttt agttctattt cagcagtcac ctgacgtcct
      781 tgtctatggt cttaaaaaca agaaggcaca catttgagaa gatgagatta aggttaggag
      841 aaaacctcag tcattgcatg ctttttagta tgggccaata aaatctcaac acctgtggga
      901 gagtaagaac taagggaatg agtttgggcg ccccctcata aaggacctta gaggcaggga
      961 acagcaatgc caaatttccc tctctcgtga gatgggggat cctgtgcagg ctgatgaggc
     1021 acccatgaga aaagccgaaa aagcatgcat cttagaaata gcccctcaat tccaggagtc
     1081 aacatgccaa agaatgaggc tggagacagg tagctccgag ggaggacttc tggcatgaga
     1141 tctcggcacg gcaagcccag catcgcctca gcccagacag gctccaccag gagatcaagc
     1201 aagggctgcc tttcaggagt cacctcctga gccacttcag agttctggaa gtgaccacgg
     1261 accagggtgg aggaatagac ttctagttca ttctgggaca cttgagccag agagttgaaa
     1321 gcttggaaag accagataag aaacctgccc tttgtctccc tagggacatg agacaccaca
     1381 ttccatttgt gctagaaaaa cctatccact gatgagtcta actgttccaa acgcctccca
     1441 cctggtgtgc acagctgcct gggtccattg tcacttgggt gcatcaggtt gtcctccgat
     1501 ttttagatga gtttcctgtc tagagatgtc ctagtctgct cactggctgg tggcagtagg
     1561 gtaccctgcg tcctcgaaaa gccagagggt tcacctagtc agacgaaact ccagaacagt
     1621 gcttgtggag ggcctgactg tcctgctcac ccacagccga tctgctgcag gtcagcaact
     1681 gtgtcgtgag cagctgccaa ccaccagcct ttctggtgct gttctccagt tcacgtctgc
     1741 cagctggtga gggcagaggc agacctggtc agacccagcg cccctcctcc ctgagggagc
     1801 atggcacagc ctcacacttg aaagacggtg tttggtttcc catctaatca acttaaggga
     1861 agccggcatg tacccttcaa ggccctgtca ccacctattt tcctgatcag ttggtataaa
     1921 ctgagggtgg cttttagaga cccagacttg gttggcagcg ctgccatgga acaccccagc
     1981 aagcacctcc cagcctgcct ttcggagcag cacccaggag gggatgccgc gctccagcaa
     2041 caccaggtca ggcctgtgca gacccctgcc ctgccgctgc agaaatccag aagcatcctt
     2101 aatgcttctc agtcttcagc cagagggagg gctgttattt ccagaggtgc gctttttatg
     2161 tacttttagc tagatgtggc atgcatctgt gagctttaga tcattaaatc caaaatgttt
     2221 gcctaaatga gg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&




    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_012426. Homo sapiens spli...[gi:11034822] Links  


LOCUS       SF3B3                   4294 bp    mRNA    linear   PRI 05-SEP-2002
DEFINITION  Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.
ACCESSION   NM_012426
VERSION     NM_012426.1  GI:11034822
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4294)
  AUTHORS   Nomura,N., Miyajima,N., Sazuka,T., Tanaka,A., Kawarabayasi,Y.,
            Sato,S., Nagase,T., Seki,N., Ishikawa,K. and Tabata,S.
  TITLE     Prediction of the coding sequences of unidentified human genes. I.
            The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by
            analysis of randomly sampled cDNA clones from human immature
            myeloid cell line KG-1
  JOURNAL   DNA Res. 1 (1), 27-35 (1994)
  MEDLINE   96051387
   PUBMED   7584026
REFERENCE   2
  AUTHORS   Nomura,N., Miyajima,N., Sazuka,T., Tanaka,A., Kawarabayasi,Y.,
            Sato,S., Nagase,T., Seki,N., Ishikawa,K. and Tabata,S.
  TITLE     Prediction of the coding sequences of unidentified human genes. I.
            The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by
            analysis of randomly sampled cDNA clones from human immature
            myeloid cell line KG-1 (supplement)
  JOURNAL   DNA Res. 1 (1), 47-56 (1994)
  MEDLINE   96051389
REFERENCE   3  (bases 1 to 4294)
  AUTHORS   Das,B.K., Xia,L., Palandjian,L., Gozani,O., Chyung,Y. and Reed,R.
  TITLE     Characterization of a protein complex containing spliceosomal
            proteins SAPs 49, 130, 145, and 155
  JOURNAL   Mol. Cell. Biol. 19 (10), 6796-6802 (1999)
  MEDLINE   99421963
   PUBMED   10490618
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from D87686.1.
FEATURES             Location/Qualifiers
     source          1..4294
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.3"
                     /sex="male"
                     /cell_line="KG-1"
                     /cell_type="myeloblast"
                     /tissue_type="bone marrow"
     gene            1..4294
                     /gene="SF3B3"
                     /note="RSE1; SAP130; SF3B130; KIAA0017"
                     /db_xref="LocusID:23450"
                     /db_xref="MIM:605592"
     CDS             157..3810
                     /gene="SF3B3"
                     /note="similar to human xeroderma pigmentosum groupE
                     UV-damaged DNA binding f actor(U32986);
                     spliceosome-associated protein 130; splicing factor 3b,
                     subunit 3, 130kD"
                     /codon_start=1
                     /product="splicing factor 3b, subunit 3, 130kDa"
                     /protein_id="NP_036558.1"
                     /db_xref="GI:11034823"
                     /db_xref="LocusID:23450"
                     /db_xref="MIM:605592"
                     /translation="MFLYNLTLQRATGISFAIHGNFSGTKQQEIVVSRGKILELLRPD
                     PNTGKVHTLLTVEVFGVIRSLMAFRLTGGTKDYIVVGSDSGRIVILEYQPSKNMFEKI
                     HQETFGKSGCRRIVPGQFLAVDPKGRAVMISAIEKQKLVYILNRDAAARLTISSPLEA
                     HKANTLVYHVVGVDVGFENPMFACLEMDYEEADNDPTGEAAANTQQTLTFYELDLGLN
                     HVVRKYSEPLEEHGNFLITVPGGSDGPSGVLICSENYITYKNFGDQPDIRCPIPRRRN
                     DLDDPERGMIFVCSATHKTKSMFFFLAQTEQGDIFKITLETDEDMVTEIRLKYFDTVP
                     VAAAMCVLKTGFLFVASEFGNHYLYQIAHLGDDDEEPEFSSAMPLEEGDTFFFQPRPL
                     KNLVLVDELDSLSPILFCQIADLANEDTPQLYVACGRGPRSSLRVLRHGLEVSEMAVS
                     ELPGNPNAVWTVRRHIEDEFDAYIIVSFVNATLVLSIGETVEEVTDSGFLGTTPTLSC
                     SLLGDDALVQVYPDGIRHIRADKRVNEWKTPGKKTIVKCAVNQRQVVIALTGGELVYF
                     EMDPSGQLNEYTERKEMSADVVCMSLANVPPGEQRSRFLAVGLVDNTVRIISLDPSDC
                     LQPLSMQALPAQPESLCIVEMGGTEKQDELGERGSIGFLYLNIGLQNGVLLRTVLDPV
                     TGDLSDTRTRYLGSRPVKLFRVRMQGQEAVLAMSSRSWLSYSYQSRFHLTPLSYETLE
                     FASGFASEQCPEGIVAISTNTLRILALEKLGAVFNQVAFPLQYTPRKFVIHPESNNLI
                     IIETDHNAYTEATKAQRKQQMAEEMVEAAGEDERELAAEMAAAFLNENLPESIFGAPK
                     AGNGQWASVIRVMNPIQGNTLDLVQLEQNEAAFSVAVCRFSNTGEDWYVLVGVAKDLI
                     LNPRSVAGGFVYTYKLVNNGEKLEFLHKTPVEEVPAAIAPFQGRVLIGVGKLLRVYDL
                     GKKKLLRKCENKHIANYISGIQTIGHRVIVSDVQESFIWVRYKRNENQLIIFADDTYP
                     RWVTTASLLDYDTVAGADKFGNICVVRLPPNTNDEVDEDPTGNKALWDRGLLNGASQK
                     AEVIMNYHVGETVLSLQKTTLIPGGSESLVYTTLSGGIGILVPFTSHEDHDFFQHVEM
                     HLRSEHPPLCGRDHLSFRSYYFPVKNVIDGDLCEQFNSMEPNKQKNVSEELDRTPPEV
                     SKKLEDIRTRYAF"
     misc_feature    2734..3633
                     /gene="SF3B3"
                     /note="Region: pfam03178, CPSF_A, CPSF A subunit region.
                     This family includes a region that lies towards the
                     C-terminus of the cleavage and polyadenylation specificity
                     factor (CPSF) A (160 kDa) subunit. CPSF is involved in
                     mRNA polyadenylation and binds the AAUAAA conserved
                     sequence in pre-mRNA. CPSF has also been found to be
                     necessary for splicing of single-intron pre-mRNAs. The
                     function of the aligned region is unknown but may be
                     involved in RNA/DNA binding"
     variation       3144
                     /gene="SF3B3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3202137"
     variation       3144
                     /gene="SF3B3"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:12909"
     variation       4249
                     /gene="SF3B3"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1138424"
BASE COUNT     1067 a   1017 c   1095 g   1115 t
ORIGIN      
        1 cgccagtatg ttggagttgg tggtggctta agttttgaag ggaggtagca tccgttggat
       61 atccacacca tccttctcgc tgcaggcttt cttggactcc gtactgttgg tgtaaccaag
      121 gcctggaggt ctgggtggct caggtttcct gcagccatgt ttctgtacaa cttaaccttg
      181 cagagagcca ctggcatcag ctttgccatt catggaaact tttctggaac caaacaacaa
      241 gaaattgttg tttcccgtgg gaagatcttg gagctgcttc gcccagaccc caacactggc
      301 aaagtacata ccctactcac tgtggaagta ttcggtgtta tccggtcact catggccttt
      361 aggctgacag gtggcaccaa agactacatt gtagttggca gtgactctgg tcgaattgtt
      421 attttggaat accagccatc taagaatatg tttgagaaga ttcaccaaga aacctttggc
      481 aagagtggat gccgtcgcat cgttcctggc cagttcttag ctgtggatcc caaagggcga
      541 gccgttatga ttagtgccat tgagaaacag aaattggtgt atattttgaa cagagatgct
      601 gcagcccgac ttaccatttc atctcccctg gaagcccaca aagcaaacac tttagtgtat
      661 catgtagttg gagtagatgt cggatttgaa aatccaatgt ttgcttgtct ggaaatggat
      721 tatgaggaag cagacaatga tccaacaggg gaagcagcag ctaataccca gcagacactt
      781 actttctatg agctagacct tggtttaaat catgtggtcc gaaaatacag tgaacctttg
      841 gaggaacacg gcaacttcct tattacagtt cctggagggt cagatggtcc aagtggagta
      901 ctgatctgct ctgaaaacta tattacttac aagaactttg gtgaccagcc agatatccgc
      961 tgtccaattc ccaggaggcg gaatgacctg gatgaccctg aaagaggaat gatttttgtc
     1021 tgctctgcaa cccataaaac caaatcgatg ttcttctttt tggctcaaac tgagcaggga
     1081 gatatcttta agatcacttt ggagacagat gaagatatgg ttactgagat ccggctcaaa
     1141 tattttgata ctgtacccgt tgctgctgcc atgtgtgtgc ttaaaacagg gttccttttt
     1201 gtagcatcag aatttggaaa ccattactta tatcaaattg cacatcttgg agatgatgat
     1261 gaagaacctg agttttcatc agccatgcct ctggaagaag gagacacatt cttttttcag
     1321 ccaagaccac ttaaaaacct tgtgctggtt gatgagttgg acagcctctc tcccattctg
     1381 ttttgccaga tagctgatct ggccaatgaa gatactccac agttgtatgt ggcctgtggt
     1441 aggggacccc gatcatctct gagagtccta agacatggac ttgaggtgtc agaaatggct
     1501 gtttctgagc tacctggtaa ccccaacgct gtctggacag tgcgtcgaca cattgaagat
     1561 gagtttgatg cctacatcat tgtgtctttc gtgaatgcca ccctagtgtt gtccattgga
     1621 gaaactgtag aagaagtgac tgactctggg ttcctgggga ccaccccgac cttgtcctgc
     1681 tccttattag gagatgatgc cttggtgcag gtctatccag atggcattcg gcacatacga
     1741 gcagacaaga gagtcaatga gtggaagacc cctggaaaga aaacaattgt gaagtgtgca
     1801 gtgaaccagc gacaagtggt gattgccctg acaggaggag agctggtcta tttcgagatg
     1861 gatccttcag gacagctgaa tgagtacaca gaacggaagg agatgtcagc agatgtggtg
     1921 tgcatgagtc tggccaatgt accccctgga gagcagcggt ctcgcttcct ggctgtgggg
     1981 cttgtggaca acactgtcag aatcatctcc ctggatccct cagactgttt gcaacctcta
     2041 agcatgcagg ctctcccagc ccagcctgag tccttgtgta tcgtggaaat gggtgggact
     2101 gagaagcagg atgagctggg tgagaggggc tcgattggct tcctatacct gaatattggg
     2161 ctacagaacg gtgtgctgct gaggactgtc ttggaccctg tcactgggga tttgtctgat
     2221 actcgcactc ggtacctggg gtcccgtcct gtgaagctct tccgagtccg aatgcaaggc
     2281 caggaggcag tattggccat gtcaagccgc tcatggttga gctattctta ccaatctcgc
     2341 ttccatctca ccccactgtc ttacgagaca ctggaatttg catcgggttt tgcctcggaa
     2401 cagtgtcccg agggcattgt ggccatctcc accaacaccc tacggatttt ggcattagag
     2461 aagctcggtg ctgtcttcaa tcaagtagcc ttcccactgc agtacacacc caggaaattt
     2521 gtcatccacc ctgagagtaa caaccttatt atcattgaaa cggaccacaa tgcctacact
     2581 gaggccacga aagctcagag aaagcagcag atggcagagg aaatggtgga agcagcaggg
     2641 gaggatgagc gggagctggc cgcagagatg gcagcagcat tcctcaatga aaacctccct
     2701 gaatccatct ttggagctcc caaggctggc aatgggcagt gggcctctgt gatccgagtg
     2761 atgaatccca ttcaagggaa cacactggac cttgtccagc tggaacagaa tgaggcagct
     2821 tttagtgtgg ctgtgtgcag gttttccaac actggtgaag actggtatgt gctggtgggt
     2881 gtggccaagg acctgatact aaacccccga tctgtggcag ggggcttcgt ctatacttac
     2941 aagcttgtga acaatgggga aaaactggag tttttgcaca agactcctgt ggaagaggtc
     3001 cctgctgcta ttgccccatt ccaggggagg gtgttgattg gtgtggggaa gctgttgcgt
     3061 gtctatgacc tgggaaagaa gaagttactc cgaaaatgtg agaataagca tattgccaat
     3121 tatatctctg ggatccagac tattggacat agggtaattg tatctgatgt ccaagaaagt
     3181 ttcatctggg ttcgctacaa gcgtaatgaa aaccagctta tcatctttgc tgatgatacc
     3241 tacccccgat gggtcactac agccagcctc ctggactatg acactgtggc tggggcagac
     3301 aagtttggca acatatgtgt ggtgaggctc ccacctaaca ccaatgatga agtagatgag
     3361 gatcctacag gaaacaaagc cctgtgggac cgtggcttgc tcaatggggc ctcccagaag
     3421 gcagaggtga tcatgaacta ccatgtcggg gagacggtgc tgtccttgca gaagaccacg
     3481 ctgatccctg gaggctcaga atcacttgtc tataccacct tgtctggagg aattggcatc
     3541 cttgtgccat tcacgtccca tgaggaccat gacttcttcc agcatgtgga aatgcacctg
     3601 cggtctgaac atccccctct ctgtgggcgg gaccacctca gctttcgctc ctactacttc
     3661 cctgtgaaga atgtgattga tggagacctc tgtgagcagt tcaattccat ggaacccaac
     3721 aaacaaaaga acgtctctga agaactggac cgaaccccac ccgaagtgtc caagaaactc
     3781 gaggatatcc ggacccgcta cgccttctga gccctccttt cccggtgggg cttgccagag
     3841 actgtgtgtt ttgtttcccc caccaccatc actgccacct ggcttctgcc atgtggcagg
     3901 agggtgactg gataattaag actgcattat gaaagtcaac agctctttcc cctcagctct
     3961 tctcctggaa tgactggctt cccctcaaat tggcactgag atttgctaca cttctcccca
     4021 cctggtacat gatacatgac cccaggttcc agtgtagaac ctgagtcccc cattccccaa
     4081 agccatccct gcattgatat gtcttgactc tcctgtctac ttttgcacac acccttaatt
     4141 tttaattggt tttcttgtaa atacagtttt gtacaatgtt atctctgtgg gaggaaggag
     4201 gcaggctgtg gtgggactgg gtagggtata gtatcactcc tgagttccac tgctctagaa
     4261 tctaaccaga aatagaaacc tagtttttaa ggtg
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  



&&&&&&&



    
 
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books 
 
   Search PubMed Protein Nucleotide PopSet Taxonomy Genome OMIM Structure Domains GEO Books Books2 MapViewDr TestDb UniSTS CDD SNP Journals UniGene NCBISearch  for        
 
    Limits  Preview/Index  History  Clipboard  Details  
 
 
  Summary ASN.1 FASTA TinySeq XML GenBank GBSeq XML GI List Graphics XML default             
 
 

1: NM_001428. Homo sapiens enol...[gi:16507965] Links  


LOCUS       ENO1                    1812 bp    mRNA    linear   PRI 27-AUG-2002
DEFINITION  Homo sapiens enolase 1, (alpha) (ENO1), mRNA.
ACCESSION   NM_001428 NM_005945
VERSION     NM_001428.2  GI:16507965
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1812)
  AUTHORS   Giallongo,A., Feo,S., Moore,R., Croce,C.M. and Showe,L.C.
  TITLE     Molecular cloning and nucleotide sequence of a full-length cDNA for
            human alpha enolase
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 83 (18), 6741-6745 (1986)
  MEDLINE   86313654
   PUBMED   3529090
REFERENCE   2  (bases 1 to 1812)
  AUTHORS   Giallongo,A., Oliva,D., Cali,L., Barba,G., Barbieri,G. and Feo,S.
  TITLE     Structure of the human gene for alpha-enolase
  JOURNAL   Eur. J. Biochem. 190 (3), 567-573 (1990)
  MEDLINE   90323004
   PUBMED   2373081
REFERENCE   3  (bases 1 to 1812)
  AUTHORS   Ray,R. and Miller,D.M.
  TITLE     Cloning and characterization of a human c-myc promoter-binding
            protein
  JOURNAL   Mol. Cell. Biol. 11 (4), 2154-2161 (1991)
  MEDLINE   91172204
   PUBMED   2005901
REFERENCE   4  (bases 1 to 1812)
  AUTHORS   Oliva,D., Cali,L., Feo,S. and Giallongo,A.
  TITLE     Complete structure of the human gene encoding neuron-specific
            enolase
  JOURNAL   Genomics 10 (1), 157-165 (1991)
  MEDLINE   91257823
   PUBMED   2045099
REFERENCE   5  (bases 1 to 1812)
  AUTHORS   White,R.A., Adkison,L.R., Dowler,L.L. and Ray,R.B.
  TITLE     Chromosomal localization of the human gene encoding c-myc
            promoter-binding protein (MPB1) to chromosome 1p35-pter
  JOURNAL   Genomics 39 (3), 406-408 (1997)
  MEDLINE   97224472
   PUBMED   9119380
REFERENCE   6  (bases 1 to 1812)
  AUTHORS   Onyango,P., Lubyova,B., Gardellin,P., Kurzbauer,R. and Weith,A.
  TITLE     Molecular cloning and expression analysis of five novel genes in
            chromosome 1p36
  JOURNAL   Genomics 50 (2), 187-198 (1998)
  MEDLINE   98317532
   PUBMED   9653645
REFERENCE   7  (bases 1 to 1812)
  AUTHORS   White,P.S., Jensen,S.J., Rajalingam,V., Stairs,D., Sulman,E.P.,
            Maris,J.M., Biegel,J.A., Wooster,R. and Brodeur,G.M.
  TITLE     Physical mapping of the CA6, ENO1, and SLC2A5 (GLUT5) genes and
            reassignment of SLC2A5 to 1p36.2
  JOURNAL   Cytogenet. Cell Genet. 81 (1), 60-64 (1998)
  MEDLINE   98358147
   PUBMED   9691177
REFERENCE   8  (bases 1 to 1812)
  AUTHORS   Feo,S., Arcuri,D., Piddini,E., Passantino,R. and Giallongo,A.
  TITLE     ENO1 gene product binds to the c-myc promoter and acts as a
            transcriptional repressor: relationship with Myc promoter-binding
            protein 1 (MBP-1)
  JOURNAL   FEBS Lett. 473 (1), 47-52 (2000)
  MEDLINE   20263726
   PUBMED   10802057
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M14328.1 and X16287.1.
            On Oct 29, 2001 this sequence version replaced gi:4503570.
            Summary: This gene encodes one of three enolase isoenzymes found in
            mammals; it encodes alpha-enolase, a homodimeric soluble enzyme,
            and also encodes a shorter monomeric structural lens protein,
            tau-crystallin. The two proteins are made from the same message.
            The full length protein, the isoenzyme, is found in the cytoplasm.
            The shorter protein is produced from an alternative translation
            start, is localized to the nucleus, and has been found to bind to
            an element in the c-myc promoter. A pseudogene has been identified
            that is located on the other arm of the same chromosome.
FEATURES             Location/Qualifiers
     source          1..1812
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.3-p36.2"
     gene            1..1812
                     /gene="ENO1"
                     /note="NNE; PPH; MPB1; MBP-1; ENO1L1"
                     /db_xref="LocusID:2023"
                     /db_xref="MIM:172430"
     CDS             152..1456
                     /gene="ENO1"
                     /EC_number="4.2.1.11"
                     /note="phosphopyruvate hydratase; enolase-1, alpha;
                     enolase 1, (alpha)-like 1; MYC promoter-binding protein 1;
                     non-neural enolase; 2-phospho-D-glycerate hydro-lyase;
                     crystallin, tau, included"
                     /codon_start=1
                     /product="enolase 1"
                     /protein_id="NP_001419.1"
                     /db_xref="GI:4503571"
                     /db_xref="LocusID:2023"
                     /db_xref="MIM:172430"
                     /translation="MSILKIHAREIFDSRGNPTVEVDLFTSKGLFRAAVPSGASTGIY
                     EALELRDNDKTRYMGKGVSKAVEHINKTIAPALVSKKLNVTEQEKIDKLMIEMDGTEN
                     KSKFGANAILGVSLAVCKAGAVEKGVPLYRHIADLAGNSEVILPVPAFNVINGGSHAG
                     NKLAMQEFMILPVGAANFREAMRIGAEVYHNLKNVIKEKYGKDATNVGDEGGFAPNIL
                     ENKEGLELLKTAIGKAGYTDKVVIGMDVAASEFFRSGKYDLDFKSPDDPSRYISPDQL
                     ADLYKSFIKDYPVVSIEDPFDQDDWGAWQKFTASAGIQVVGDDLTVTNPKRIAKAVNE
                     KSCNCLLLKVNQIGSVTESLQACKLAQANGWGVMVSHRSGETEDTFIADLVVGLCTGQ
                     IKTGAPCRSERLAKYNQLLRIEEELGSKAKFAGRNFRNPLAK"
     misc_feature    155..553
                     /gene="ENO1"
                     /note="Region: pfam03952, enolase_N, Enolase, N-terminal
                     domain"
     misc_feature    440..442
                     /gene="ENO1"
                     /note="Region: alternative translation start"
     misc_feature    575..1444
                     /gene="ENO1"
                     /note="Region: pfam00113, enolase, Enolase, C-terminal TIM
                     barrel domain"
     misc_feature    947..1297
                     /gene="ENO1"
                     /note="Region: pfam01188, MR_MLE, Mandelate racemase /
                     muconate lactonizing enzyme, C-terminal domain. C-terminal
                     domain is TIM barrel fold, dehydratase-like domain.
                     Manganese is associated with this domain"
     variation       886
                     /gene="ENO1"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:2230874"
     variation       1138
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3180139"
     variation       1274
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:3206672"
     variation       1406
                     /gene="ENO1"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1065605"
     variation       1444
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1065722"
     variation       1473
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:1065725"
     variation       1511
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="G"
                     /db_xref="dbSNP:3207089"
     variation       1546
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3211543"
     variation       1578
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3206703"
     variation       1664
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:3206709"
     variation       1700
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3199777"
     variation       1707
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:1065737"
     variation       1719
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="G"
                     /db_xref="dbSNP:1059149"
     variation       1739
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1803537"
     variation       1742
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="C"
                     /allele="T"
                     /db_xref="dbSNP:1059176"
     variation       1755
                     /gene="ENO1"
                     /note="WARNING: map location ambiguous"
                     /allele="A"
                     /allele="C"
                     /db_xref="dbSNP:3206710"
     polyA_signal    1787..1792
                     /gene="ENO1"
     polyA_site      1812
                     /gene="ENO1"
BASE COUNT      416 a    487 c    508 g    401 t
ORIGIN      
        1 tagctaggca ggaagtcggc gcgggcggcg cggacagtat ctgtgggtac ccggagcacg
       61 gagatctcgc cggctttacg ttcacctcgg tgtctgcagc accctccgct tcctctccta
      121 ggcgacgaga cccagtggct agaagttcac catgtctatt ctcaagatcc atgccaggga
      181 gatctttgac tctcgcggga atcccactgt tgaggttgat ctcttcacct caaaaggtct
      241 cttcagagct gctgtgccca gtggtgcttc aactggtatc tatgaggccc tagagctccg
      301 ggacaatgat aagactcgct atatggggaa gggtgtctca aaggctgttg agcacatcaa
      361 taaaactatt gcgcctgccc tggttagcaa gaaactgaac gtcacagaac aagagaagat
      421 tgacaaactg atgatcgaga tggatggaac agaaaataaa tctaagtttg gtgcgaacgc
      481 cattctgggg gtgtcccttg ccgtctgcaa agctggtgcc gttgagaagg gggtccccct
      541 gtaccgccac atcgctgact tggctggcaa ctctgaagtc atcctgccag tcccggcgtt
      601 caatgtcatc aatggcggtt ctcatgctgg caacaagctg gccatgcagg agttcatgat
      661 cctcccagtc ggtgcagcaa acttcaggga agccatgcgc attggagcag aggtttacca
      721 caacctgaag aatgtcatca aggagaaata tgggaaagat gccaccaatg tgggggatga
      781 aggcgggttt gctcccaaca tcctggagaa taaagaaggc ctggagctgc tgaagactgc
      841 tattgggaaa gctggctaca ctgataaggt ggtcatcggc atggacgtag cggcctccga
      901 gttcttcagg tctgggaagt atgacctgga cttcaagtct cccgatgacc ccagcaggta
      961 catctcgcct gaccagctgg ctgacctgta caagtccttc atcaaggact acccagtggt
     1021 gtctatcgaa gatccctttg accaggatga ctggggagct tggcagaagt tcacagccag
     1081 tgcaggaatc caggtagtgg gggatgatct cacagtgacc aacccaaaga ggatcgccaa
     1141 ggccgtgaac gagaagtcct gcaactgcct cctgctcaaa gtcaaccaga ttggctccgt
     1201 gaccgagtct cttcaggcgt gcaagctggc ccaggccaat ggttggggcg tcatggtgtc
     1261 tcatcgttcg ggggagactg aagatacctt catcgctgac ctggttgtgg ggctgtgcac
     1321 tgggcagatc aagactggtg ccccttgccg atctgagcgc ttggccaagt acaaccagct
     1381 cctcagaatt gaagaggagc tgggcagcaa ggctaagttt gccggcagga acttcagaaa
     1441 ccccttggcc aagtaagctg tgggcaggca agcccttcgg tcacctgttg gctacacaga
     1501 cccctcccct cgtgtcagct caggcagctc gaggcccccg accaacactt gcaggggtcc
     1561 ctgctagtta gcgccccacc gccgtggagt tcgtaccgct tccttagaac ttctacagaa
     1621 gccaagctcc ctggagccct gttggcagct ctagctttgc agtcgtgtaa ttggcccaag
     1681 tcattgtttt tctcgcctca ctttccacca agtgtctaga gtcatgtgag cctcgtgtca
     1741 tctccggggt ggccacaggc tagatccccg gtggttttgt gctcaaaata aaaagcctca
     1801 gtgacccatg ag
//



Revised: July 5, 2002.
 
 


Disclaimer | Write to the Help Desk
NCBI | NLM | NIH 

 

Oct 21 2002 11:56:56 

Related SequencesRelated SequencesMap ViewerMap ViewerOMIMOMIMProteinProteinPubMedPubMedSNPSNPTaxonomyTaxonomyUniGeneUniGeneUniSTSUniSTSLinkOutLinkOutHelpHelp  


&&&&&&&&&

