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 //