LOCUS       HUMTYRM                 1929 bp    mRNA    linear   HUM 14-JAN-1995
DEFINITION  H.sapien tyrosinase and mutant tyrosinase, complete cds.
ACCESSION   M74314
VERSION     M74314.1
KEYWORDS    tyrosinase.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1929)
  AUTHORS   Chintamaneni,C.D., Halaban,R., Kobayashi,Y., Witkop,C.J. Jr. and
            Kwon,B.S.
  TITLE     A single base insertion in the putative transmembrane domain of the
            tyrosinase gene as a cause for tyrosinase-negative oculocutaneous
            albinism
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 88 (12), 5272-5276 (1991)
   PUBMED   1711223
COMMENT     Original source text: Homo sapiens cDNA to mRNA.
FEATURES             Location/Qualifiers
     source          1..1929
                     /db_xref="H-InvDB:HIT000196318"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /map="11q14-q21"
     gene            1..1929
                     /gene="TYR"
     mRNA            1..1929
                     /gene="TYR"
     CDS             32..1636
                     /gene="TYR"
                     /codon_start=1
                     /product="tyrosinase"
                     /protein_id="AAA61244.1"
                     /db_xref="GDB:G00-120-476"
                     /translation="MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRS
                     PCGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGN
                     CKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMK
                     NGSTPMFNDINIYDLFVWMHIYYVSMDALLGGYEIWRDIDFSAHEAPAFLPWHRLFLL
                     RWEQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQI
                     VCSRLEEYNSHQSLCNGTPEGPLRRNPGNHDKSTTPRLPSSADVEFRCLSLTQYESGS
                     MDKAANFSFRNTLEGFASPLTGIADASQSSMHNALHIYMNGTMSQVQGSANDPIFLLH
                     HAFVDSIFEQWLQRHRPLQEVYPEANAPIGHRNRESYMVPFIPLYRNGDFFISSKDLG
                     YDYSYLQDSDPDSFQDYIKSYLEQASRIWSWLLGAAMVGAVLTALLAGPVSLLCLRHK
                     RKQLPEEKQPLLMEKEDYHSLYQSHL"
     variation       1511..1512
                     /gene="TYR"
                     /note="G00-120-476"
BASE COUNT          512 a          457 c          433 g          527 t
ORIGIN      
        1 tcctgcagac cttgtgagga ctagaggaag aatgctcctg gctgttttgt actgcctgct
       61 gtggagtttc cagacctccg ctggccattt ccctagagcc tgtgtctcct ctaagaacct
      121 gatggagaag gaatgctgtc caccgtggag cggggacagg agtccctgtg gccagctttc
      181 aggcagaggt tcctgtcaga atatccttct gtccaatgca ccacttgggc ctcaatttcc
      241 cttcacaggg gtggatgacc gggagtcgtg gccttccgtc ttttataata ggacctgcca
      301 gtgctctggc aacttcatgg gattcaactg tggaaactgc aagtttggct tttggggacc
      361 aaactgcaca gagagacgac tcttggtgag aagaaacatc ttcgatttga gtgccccaga
      421 gaaggacaaa ttttttgcct acctcacttt agcaaagcat accatcagct cagactatgt
      481 catccccata gggacctatg gccaaatgaa aaatggatca acacccatgt ttaacgacat
      541 caatatttat gacctctttg tctggatgca tatatattat gtgtcaatgg atgcactgct
      601 tgggggatat gaaatctgga gagacattga tttttctgcc catgaagcac cagcttttct
      661 gccttggcat agactcttct tgttgcggtg ggaacaagaa atccagaagc tgacaggaga
      721 tgaaaacttc actattccat attgggactg gcgggatgca gaaaagtgtg acatttgcac
      781 agatgagtac atgggaggtc agcaccccac aaatcctaac ttactcagcc cagcatcatt
      841 cttctcctct tggcagattg tctgtagccg attggaggag tacaacagcc atcagtcttt
      901 atgcaatgga acgcccgagg gacctttacg gcgtaatcct ggaaaccatg acaaatccac
      961 aaccccaagg ctcccctctt cagctgatgt agaatttaga tgcctgagtt tgacccaata
     1021 tgaatctggt tccatggata aagctgccaa tttcagcttt agaaatacac tggaaggatt
     1081 tgctagtcca cttactggga tagcggatgc ctctcaaagc agcatgcaca atgccttgca
     1141 catctatatg aatggaacaa tgtcccaggt acagggatct gccaacgatc ctatcttcct
     1201 tcttcaccat gcatttgttg acagtatttt tgagcagtgg ctccaaaggc accgtcctct
     1261 tcaagaagtt tatccagaag ccaatgcacc cattggacat cgaaaccggg aatcctacat
     1321 ggttcctttt ataccactgt acagaaatgg tgatttcttt atttcatcca aagatctggg
     1381 ctatgactat agctatctac aagattcaga cccagactct tttcaagact acattaagtc
     1441 ctatttggaa caagcgagtc ggatctggtc atggctcctt ggggcggcga tggtaggggc
     1501 cgtcctcact gccctgctgg cagggcctgt gagcttgctg tgtcttcgtc acaagagaaa
     1561 gcagcttcct gaagaaaagc agccactcct catggagaaa gaggattacc acagcttgta
     1621 tcagagccat ttataaaaag gcttaggcaa tagagtaggg ccaaaaagcc tgacctcact
     1681 ctaactcaaa gtaatgtcca ggttcccaga gaatatctgc tggtattttc tgtaaagacc
     1741 atttgcaaaa ttgtaaccta atacaaagtg tagccttctt ccaactcagg tagaacacac
     1801 ctgtctttgt cttgctgttt tcactcagcc cttttaacat tttcccctaa gcccatatgt
     1861 ctaaggaaag gatgctattt ggtaatgagg aactgttatt tgtatgtgaa ttaaaagtgc
     1921 tcttatttt
//