From: GenBank-Updates@net.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: Human collagen alpha-2 type I mRNA, complete cds.
Date: 5 Nov 92 23:09:26 GMT
Distribution: bionet
Checksum: 63279 13

LOCUS       HUMC1A2      5416 bp ss-mRNA            PRI       15-OCT-1992
DEFINITION  Human collagen alpha-2 type I mRNA, complete cds.
ACCESSION   J03464 M18057 X02488
KEYWORDS    alpha-2 type I collagen; collagen.
SOURCE      Human, cDNA to mRNA, clone pHCOL2A1.
  ORGANISM  Homo sapiens
            Eukaryota; Animalia; Chordata; Vertebrata; Mammalia; Theria;
            Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE   1  (bases 1 to 751)
  AUTHORS   Dickson,L.A., de Wet,W.J., Di Liberto,M., Weil,D. and Ramirez,F.
  TITLE     Analysis of the promoter region and the N-propeptide domain of the
            human pro-alpha-2(I) collagen gene
  JOURNAL   Nucleic Acids Res. 13, 3427-3438 (1985)
  STANDARD  full automatic
REFERENCE   2  (bases 335 to 5416)
  AUTHORS   de Wet,W.J., Bernard,M., Bensen-Chanda,V., Chu,M.-L., Dickson,L.,
            Weil,D. and Ramirez,F.
  TITLE     Organization of the human pro-alpha-2(I) collagen gene
  JOURNAL   J. Biol. Chem. 262, 16032-16036 (1987)
  STANDARD  full automatic
REFERENCE   3  (sites)
  AUTHORS   Wirtz,M.K., Glanville,R.W., Steinmann,B., Rao,V.H. and
            Hollister,D.W.
  TITLE     Ehlers-Danlos syndrome type VIIB: Deletion of 18 amino acids
            comprising the N-telopeptide region of a pro-alpha-2(I) chain
  JOURNAL   J. Biol. Chem. 262, 16376-16385 (1987)
  STANDARD  full automatic
REFERENCE   4  (sites)
  AUTHORS   Weil,D., Bernard,M., Combates,N., Wirtz,M.K., Hollister,D.W.,
            Steinmann,B. and Ramirez,F.
  TITLE     Identification of a mutation that causes exon skipping during
            collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant
  JOURNAL   J. Biol. Chem. 263, 8561-8564 (1988)
  STANDARD  full automatic
REFERENCE   5  (sites)
  AUTHORS   Marini,J.C., Lewis,M.B., Wang,Q., Chen,K.C. and Orrison,B.M.
  TITLE     Serine for glycine substitutions in type I collagen in two cases of
            type IV osteogenesis imperfecta
  JOURNAL   J. Biol. Chem. (1992) In press
  STANDARD  full automatic
COMMENT     [2]  revises [1]. [3]  sites; Ehlers-Danlos syndrome type VIIB
            deletion. [4]  sites; polymorphism site.
               Draft entry and computer-readable sequence [2] kindly provided
            by F.Ramirez 18-OCT-1987.
              EMBL features not translated to GenBank features:
              key        from     to       description
              PRM         249    253       pot. CAAT-box
              PRM         302    307       pot. TATA-box
              PRM         335    335       transcription start site
              TERM        451    472       pot. stem-loop structure
              SITE        709    710       cleavage site of N-terminal
                                           peptidase.
FEATURES             Location/Qualifiers
     sig_peptide     470..535
                     /note="pre-pro-alpha-2 type I collagen signal protein"
                     /codon_start=1
     mat_peptide     536..4567
                     /note="pro-alpha-2 type I collagen"
                     /codon_start=1
     misc_feature    695..748
                     /note="Ehlers-Danlos syndrome deletion [3]"
     misc_feature    715
                     /note="site of polymorphism [4]"
     mutation        replace(3233,"a")
                     /phenotype="osteogenesis imperfecta type IV"
                     /gene="COL1A2"
                     /citation=[5]
     mutation        replace(4321,"a")
                     /phenotype="wild type"
                     /gene="COL1A2"
                     /citation=[5]
     CDS             470..4570
                     /note="pre-pro-alpha-2 type I collagen"
                     /gene="COL1A2"
                     /codon_start=1
                     /translation="MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGER
                     GPPGPPGRDGEDGPTGPPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPP
                     GAAGAPGPQGFQGPAGEPGEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVG
                     PQGARGFPGTPGLPGFKGIRGHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGL
                     PGERGRVGAPGPAGARGSDGSVGPVGPAGPNGSAGPPGFPGAPGPKGEIGAVGNAGPT
                     GPAGPRGEVGLPGLSGPVGPPGNPGANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPPG
                     AAGTTGARGLVGEPGPAGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGP
                     PGPPGLRGSPGSRGLPGADGRAGVMGPPGSRGASGPAGVRGPNGDAGRPGEPGLMGPR
                     GLPGSPGNIGPAGKEGPVGLPGIDGRPGPIGPVGARGEPGNIGFPGPKGPTGDPGKNG
                     DKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPAGPPGFQGLPGPSGPAGE
                     VGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNKGEP
                     GVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEPGLRGEIGNPGRDGARGAHGAVG
                     APGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPAGPNGFAGPAGAAGQPGAKGE
                     RGGKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDGGPPGMTGFPGAAGRTGPP
                     GPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPPGFAGEKGPSGEAGTAG
                     PPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPGAVGS
                     PGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPA
                     GKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGFKGHNGLQG
                     LPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQGP
                     AGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSAPSLRPKDYEVDATLKSLNNQI
                     ETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMEAIKVYCDFPTGETCI
                     RAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLLAN
                     YASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKK
                     TNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADHEFFVDIGPVCFK"
BASE COUNT     1154 a   1395 c   1574 g   1293 t
ORIGIN      Chromosome 7q21.3-q22.1.
        1 gtgtcccata gtgtttccaa acttggaaag ggcgggggag ggcgggagga tgcggagggc
       61 ggaggtatgc agacaacgag tcagagtttc cccttgaaag cctcaaaagt gtccacgtcc
      121 tcaaaaagaa tggaaccaat ttaagaagcc agccccgtgg ccacgtccct tcccccattc
      181 gggccctcct ctgcgccccc gcaggctcct cccagctgtg gctgcccggg cccccagccc
      241 cagccctccc attggtggag gcccttttgg aggcacccta gggccaggga aacttttgcc
      301 gtataaatag ggcagatccg ggatttgtta ttttagcacc acggcagcag gaggtttcgg
      361 ctaagttgga ggtactggcc acgactgcat gcccgcgccc gccatgtgat acctccgccg
      421 gtgacccagg gctctgcgac acaaggagtc gcatgtctaa gtgctagaca tgctcagctt
      481 tgtggatacg cggactttgt tgctgcttgc agtaacctta tgcctagcaa catgccaatc
      541 tttacaagag gaaactgtaa gaaagggccc agccggagat agaggaccac gtggagaaag
      601 gggtccacca ggccccccag gcagagatgg tgaagatggt cccacaggcc ctcctggtcc
      661 acctggtcct cctggccccc ctggtctcgg tgggaacttt gctgctcagt atgatggaaa
      721 aggagttgga cttggccctg gaccaatggg cttaatggga cctagaggcc cacctggtgc
      781 agctggagcc ccaggccctc aaggtttcca aggacctgct ggtgagcctg gtgaacctgg
      841 tcaaactggt cctgcaggtg ctcgtggtcc agctggccct cctggcaagg ctggtgaaga
      901 tggtcaccct ggaaaacccg gacgacctgg tgagagagga gttgttggac cacagggtgc
      961 tcgtggtttc cctggaactc ctggacttcc tggcttcaaa ggcattaggg gacacaatgg
     1021 tctggatgga ttgaagggac agcccggtgc tcctggtgtg aagggtgaac ctggtgcccc
     1081 tggtgaaaat ggaactccag gtcaaacagg agcccgtggt cttcctggtg agagaggacg
     1141 tgttggtgcc cctggtccag ctggtgcccg tggaagtgat ggaagtgtgg gtcccgtagg
     1201 tcctgctggt cctaatgggt ctgctggccc tccaggtttc ccaggtgccc ctggtcccaa
     1261 gggtgaaatt ggagctgttg gtaacgctgg tcctactgga cccgccggtc cccgtggtga
     1321 agtgggtctt ccaggcctct ccggccccgt tggacctcct ggtaatcctg gagcaaacgg
     1381 ccttactggt gccaagggtg ctgctggcct tcccggcgtt gctggggctc ccggcctccc
     1441 tggaccccgc ggtattcctg gccctcctgg tgctgccggt actactggtg ccagaggact
     1501 tgttggtgag cctggtccag ctggctccaa aggagagagc ggtaacaagg gtgagcccgg
     1561 ctccgctggt ccccaaggtc ctcctggtcc cagtggtgaa gaaggaaaga gaggccctaa
     1621 tggggaagct ggatctgccg gccctccagg acctcctggg ctgagaggta gtcctggttc
     1681 tcgtggtctt cctggagctg atggcagagc tggcgtcatg ggccctcctg gtagtcgtgg
     1741 tgcaagtggc cctgctggag tccgaggacc taatggagat gctggtcgcc ctggggagcc
     1801 tggtctcatg ggacccagag gtcttcctgg ttcccctgga aatatcggcc ccgctggaaa
     1861 agaaggtcct gtcggcctcc ctggcatcga cggcaggcct ggcccaattg gccccgttgg
     1921 agcaagagga gagcctggca acattggatt ccctggaccc aaaggcccca ctggtgaccc
     1981 tggcaaaaac ggtgataaag gtcatgctgg tcttgctggt gctcggggtg ctccaggtcc
     2041 tgatggaaac aatggtgctc agggacctcc tggaccacag ggtgttcaag gtggaaaagg
     2101 tgaacagggt cccgctggtc ctccaggctt ccagggtctg cctggcccct caggtcccgc
     2161 tggtgaagtt ggcaaaccag gagaaagggg tctccatggt gagtttggtc tccctggtcc
     2221 tgctggtcca agaggggaac gcggtccccc aggtgagagt ggtgctgccg gtcctactgg
     2281 tcctattgga agccgaggtc cttctggacc cccagggcct gatggaaaca agggtgaacc
     2341 tggtgtggtt ggtgctgtgg gcactgctgg tccatctggt cctagtggac tcccaggaga
     2401 gaggggtgct gctggcatac ctggaggcaa gggagaaaag ggtgaacctg gtctcagagg
     2461 tgaaattggt aaccctggca gagatggtgc tcgtggtgct catggtgctg taggtgcccc
     2521 tggtcctgct ggagccacag gtgaccgggg cgaagctggg gctgctggtc ctgctggtcc
     2581 tgctggtcct cggggaagcc ctggtgaacg tggcgaggtc ggtcctgctg gccccaacgg
     2641 atttgctggt ccggctggtg ctgctggtca accgggtgct aaaggagaaa gaggaggcaa
     2701 agggcctaag ggtgaaaacg gtgttgttgg tcccacaggc cccgttggag ctgctggccc
     2761 agctggtcca aatggtcccc ccggtcctgc tggaagtcgt ggtgatggag gcccccctgg
     2821 tatgactggt ttccctggtg ctgctggacg gactggtccc ccaggaccct ctggtatttc
     2881 tggccctcct ggtccccctg gtcctgctgg gaaagaaggg cttcgtggtc ctcgtggtga
     2941 ccaaggtcca gttggccgaa ctggagaagt aggtgcagtt ggtccccctg gcttcgctgg
     3001 tgagaagggt ccctctggag aggctggtac tgctggacct cctggcactc caggtcctca
     3061 gggtcttctt ggtgctcctg gtattctggg tctccctggc tcgagaggtg aacgtggtct
     3121 acctggtgtt gctggtgctg tgggtgaacc tggtcctctt ggcattgccg gccctcctgg
     3181 ggcccgtggt cctcctggtg ctgtgggtag tcctggagtc aacggtgctc ctggtgaagc
     3241 tggtcgtgat ggcaaccctg ggaacgatgg tcccccaggt cgcgatggtc aacccggaca
     3301 caagggagag cgcggttacc ctggcaatat tggtcccgtt ggtgctgcag gtgcacctgg
     3361 tcctcatggc cccgtgggtc ctgctggcaa acatggaaac cgtggtgaaa ctggtccttc
     3421 tggtcctgtt ggtcctgctg gtgctgttgg cccaagaggt cctagtggcc cacaaggcat
     3481 tcgtggcgat aagggagagc ccggtgaaaa ggggcccaga ggtcttcctg gcttcaaggg
     3541 acacaatgga ttgcaaggtc tgcctggtat cgctggtcac catggtgatc aaggtgctcc
     3601 tggctccgtg ggtcctgctg gtcctagggg ccctgctggt ccttctggcc ctgctggaaa
     3661 agatggtcgc actggacatc ctggtacggt tggacctgct ggcattcgag gccctcaggg
     3721 tcaccaaggc cctgctggcc cccctggtcc ccctggccct cctggacctc caggtgtaag
     3781 cggtggtggt tatgactttg gttacgatgg agacttctac agggctgacc agcctcgctc
     3841 agcaccttct ctcagaccca aggactatga agttgatgct actctgaagt ctctcaacaa
     3901 ccagattgag acccttctta ctcctgaagg ctctagaaag aacccagctc gcacatgccg
     3961 tgacttgaga ctcagccacc cagagtggag cagcggttac tactggattg accccaacca
     4021 aggatgcact atggaagcca tcaaagtata ctgtgatttc cctaccggcg aaacctgtat
     4081 ccgggcccaa cctgaaaaca tcccagccaa gaactggtat aggagctcca aggacaagaa
     4141 acacgtctgg ctaggagaaa ctatcaatgc tggcagccag tttgaatata atgttgaagg
     4201 agtgacttcc aaggaaatgg ctacccaact tgccttcatg cgcctgctgg ccaactatgc
     4261 ctctcagaac atcacctacc actgcaagaa cagcattgca tacatggatg aggagactgg
     4321 caacctgaaa aaggctgtca ttctacaggg ctctaatgat gttgaacttg ttgctgaggg
     4381 caacagcagg ttcacttaca ctgttcttgt agatggctgc tctaaaaaga caaatgaatg
     4441 gggaaagaca atcattgaat acaaaacaaa taagccatca cgcctgccct tccttgatat
     4501 tgcacctttg gacatcggtg gtgctgacca tgaattcttt gtggacattg gcccagtctg
     4561 tttcaaataa atgaactcaa tctaaattaa aaaagaaaga aatttgaaaa aactttctct
     4621 ttgccatttc ttcttcttct tttttaactg aaagctgaat ccttccattt cttctgcaca
     4681 tctacttgct taaattgtgg gcaaaagaga aaaagaagga ttgatcagag cattgtgcaa
     4741 tacagtttca ttaactcctt cccccgctcc cccaaaaatt tgaatttttt tttcaacact
     4801 cttacacctg ttatggaaaa tgtcaacctt tgtaagaaaa ccaaaataaa aattgaaaaa
     4861 taaaaaccat aaacatttgc accacttgtg gcttttgaat atcttccaca gagggaagtt
     4921 taaaacccaa acttccaaag gtttaaacta cctcaaaaca ctttcccatg agtgtgatcc
     4981 acattgttag gtgctgacct agacagagat gaactgaggt ccttgttttg ttttgttcat
     5041 aatacaaagg tgctaattaa tagtatttca gatacttgaa gaatgttgat ggtgctagaa
     5101 gaatttgaga agaaatactc ctgtattgag ttgtatcgtg tggtgtattt tttaaaaaat
     5161 ttgatttagc attcatattt tccatcttat tcccaattaa aagtatgcag attatttgcc
     5221 caaagttgtc ctcttcttca gattcagcat ttgttctttg ccagtctcat tttcatcttc
     5281 ttccatggtt ccacagaagc tttgtttctt gggcaagcag aaaaattaaa ttgtacctat
     5341 tttgtatatg tgagatgttt aaataaattg tgaaaaaaat gaaataaagc atgtttggtt
     5401 ttccaaaaga acatat
//