LOCUS       NM_000372               2062 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens tyrosinase (TYR), mRNA.
ACCESSION   NM_000372
VERSION     NM_000372.5
KEYWORDS    RefSeq; MANE Select.
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 2062)
  AUTHORS   Chen,C., Li,J., Wang,B., Wang,Y. and Yu,X.
  TITLE     TYR mutation in a Chinese population with oculocutaneous albinism:
            Molecular characteristics and ophthalmic manifestations
  JOURNAL   Exp Eye Res 239, 109761 (2024)
   PUBMED   38145795
  REMARK    GeneRIF: TYR mutation in a Chinese population with oculocutaneous
            albinism: Molecular characteristics and ophthalmic manifestations.
REFERENCE   2  (bases 1 to 2062)
  AUTHORS   Jin,W., Stehbens,S.J., Barnard,R.T., Blaskovich,M.A.T. and
            Ziora,Z.M.
  TITLE     Dysregulation of tyrosinase activity: a potential link between skin
            disorders and neurodegeneration
  JOURNAL   J Pharm Pharmacol 76 (1), 13-22 (2024)
   PUBMED   38007394
  REMARK    GeneRIF: Dysregulation of tyrosinase activity: a potential link
            between skin disorders and neurodegeneration.
            Review article
REFERENCE   3  (bases 1 to 2062)
  AUTHORS   Di Costanzo,L.F.
  TITLE     Structural characterization of tyrosinases and an update on human
            enzymes
  JOURNAL   Enzymes 56, 55-83 (2024)
   PUBMED   39304291
  REMARK    GeneRIF: Structural characterization of tyrosinases and an update
            on human enzymes.
            Review article
REFERENCE   4  (bases 1 to 2062)
  AUTHORS   Katiyar,S., Yadav,D. and Singh,S.K.
  TITLE     Markers of Oxidative Stress and Tyrosinase Activity in Melasma
            Patients: A Biochemical Investigation
  JOURNAL   Curr Protein Pept Sci 25 (2), 183-188 (2024)
   PUBMED   38275092
  REMARK    GeneRIF: Markers of Oxidative Stress and Tyrosinase Activity in
            Melasma Patients: A Biochemical Investigation.
REFERENCE   5  (bases 1 to 2062)
  AUTHORS   Thomas,M.G., Zippin,J. and Brooks,B.P.
  TITLE     Oculocutaneous Albinism and Ocular Albinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37053367
REFERENCE   6  (bases 1 to 2062)
  AUTHORS   Lewis,R.A.
  TITLE     Oculocutaneous Albinism Type 1 - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301345
REFERENCE   7  (bases 1 to 2062)
  AUTHORS   Oetting,W.S. and King,R.A.
  TITLE     Molecular analysis of type I-A (tyrosinase negative) oculocutaneous
            albinism
  JOURNAL   Hum Genet 90 (3), 258-262 (1992)
   PUBMED   1487241
REFERENCE   8  (bases 1 to 2062)
  AUTHORS   Tripathi,R.K., Strunk,K.M., Giebel,L.B., Weleber,R.G. and
            Spritz,R.A.
  TITLE     Tyrosinase gene mutations in type I (tyrosinase-deficient)
            oculocutaneous albinism define two clusters of missense
            substitutions
  JOURNAL   Am J Med Genet 43 (5), 865-871 (1992)
   PUBMED   1642278
REFERENCE   9  (bases 1 to 2062)
  AUTHORS   Bard,L.A.
  TITLE     Heterogeneity in Waardenburg's syndrome. Report of a family with
            ocular albinism
  JOURNAL   Arch Ophthalmol 96 (7), 1193-1198 (1978)
   PUBMED   666627
REFERENCE   10 (bases 1 to 2062)
  AUTHORS   Palmer,L.G. and Civan,M.M.
  TITLE     Intracellular distribution of free potassium in Chironomus salivary
            glands
  JOURNAL   Science 188 (4195), 1321-1322 (1975)
   PUBMED   1145200
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M27160.1 and BU736025.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000372.4.
            
            Summary: The enzyme encoded by this gene catalyzes the first 2
            steps, and at least 1 subsequent step, in the conversion of
            tyrosine to melanin. The enzyme has both tyrosine hydroxylase and
            dopa oxidase catalytic activities, and requires copper for
            function. Mutations in this gene result in oculocutaneous albinism,
            and nonpathologic polymorphisms result in skin pigmentation
            variation. The human genome contains a pseudogene similar to the 3'
            half of this gene. [provided by RefSeq, Oct 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M27160.1, M74314.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263321.6/ ENSP00000263321.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1961              M27160.1           424-2384
            1962-2062           BU736025.1         18-118              c
FEATURES             Location/Qualifiers
     source          1..2062
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.3"
     gene            1..2062
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="tyrosinase"
                     /db_xref="GeneID:7299"
                     /db_xref="HGNC:HGNC:12442"
                     /db_xref="MIM:606933"
     exon            1..898
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1669
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /EC_number="1.14.18.1"
                     /note="LB24-AB; SK29-AB; monophenol monooxygenase; tumor
                     rejection antigen AB; oculocutaneous albinism IA"
                     /codon_start=1
                     /product="tyrosinase precursor"
                     /protein_id="NP_000363.1"
                     /db_xref="CCDS:CCDS8284.1"
                     /db_xref="GeneID:7299"
                     /db_xref="HGNC:HGNC:12442"
                     /db_xref="MIM:606933"
                     /translation="MLLAVLYCLLWSFQTSAGHFPRACVSSKNLMEKECCPPWSGDRS
                     PCGQLSGRGSCQNILLSNAPLGPQFPFTGVDDRESWPSVFYNRTCQCSGNFMGFNCGN
                     CKFGFWGPNCTERRLLVRRNIFDLSAPEKDKFFAYLTLAKHTISSDYVIPIGTYGQMK
                     NGSTPMFNDINIYDLFVWMHYYVSMDALLGGSEIWRDIDFAHEAPAFLPWHRLFLLRW
                     EQEIQKLTGDENFTIPYWDWRDAEKCDICTDEYMGGQHPTNPNLLSPASFFSSWQIVC
                     SRLEEYNSHQSLCNGTPEGPLRRNPGNHDKSRTPRLPSSADVEFCLSLTQYESGSMDK
                     AANFSFRNTLEGFASPLTGIADASQSSMHNALHIYMNGTMSQVQGSANDPIFLLHHAF
                     VDSIFEQWLRRHRPLQEVYPEANAPIGHNRESYMVPFIPLYRNGDFFISSKDLGYDYS
                     YLQDSDPDSFQDYIKSYLEQASRIWSWLLGAAMVGAVLTALLAGLVSLLCRHKRKQLP
                     EEKQPLLMEKEDYHSLYQSHL"
     exon            899..1115
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1263
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1445
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1446..2062
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1943..1948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="hexamer: ATTAAA"
     polyA_site      1973
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="major polyA site"
     regulatory      2042..2047
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
                     /note="hexamer: AATAAA"
     polyA_site      2062
                     /gene="TYR"
                     /gene_synonym="ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3"
ORIGIN      
        1 actgtagtag tagctggaaa gagaaatctg tgactccaat tagccagttc ctgcagacct
       61 tgtgaggact agaggaagaa tgctcctggc tgttttgtac tgcctgctgt ggagtttcca
      121 gacctccgct ggccatttcc ctagagcctg tgtctcctct aagaacctga tggagaagga
      181 atgctgtcca ccgtggagcg gggacaggag tccctgtggc cagctttcag gcagaggttc
      241 ctgtcagaat atccttctgt ccaatgcacc acttgggcct caatttccct tcacaggggt
      301 ggatgaccgg gagtcgtggc cttccgtctt ttataatagg acctgccagt gctctggcaa
      361 cttcatggga ttcaactgtg gaaactgcaa gtttggcttt tggggaccaa actgcacaga
      421 gagacgactc ttggtgagaa gaaacatctt cgatttgagt gccccagaga aggacaaatt
      481 ttttgcctac ctcactttag caaagcatac catcagctca gactatgtca tccccatagg
      541 gacctatggc caaatgaaaa atggatcaac acccatgttt aacgacatca atatttatga
      601 cctctttgtc tggatgcatt attatgtgtc aatggatgca ctgcttgggg gatctgaaat
      661 ctggagagac attgattttg cccatgaagc accagctttt ctgccttggc atagactctt
      721 cttgttgcgg tgggaacaag aaatccagaa gctgacagga gatgaaaact tcactattcc
      781 atattgggac tggcgggatg cagaaaagtg tgacatttgc acagatgagt acatgggagg
      841 tcagcacccc acaaatccta acttactcag cccagcatca ttcttctcct cttggcagat
      901 tgtctgtagc cgattggagg agtacaacag ccatcagtct ttatgcaatg gaacgcccga
      961 gggaccttta cggcgtaatc ctggaaacca tgacaaatcc agaaccccaa ggctcccctc
     1021 ttcagctgat gtagaatttt gcctgagttt gacccaatat gaatctggtt ccatggataa
     1081 agctgccaat ttcagcttta gaaatacact ggaaggattt gctagtccac ttactgggat
     1141 agcggatgcc tctcaaagca gcatgcacaa tgccttgcac atctatatga atggaacaat
     1201 gtcccaggta cagggatctg ccaacgatcc tatcttcctt cttcaccatg catttgttga
     1261 cagtattttt gagcagtggc tccgaaggca ccgtcctctt caagaagttt atccagaagc
     1321 caatgcaccc attggacata accgggaatc ctacatggtt ccttttatac cactgtacag
     1381 aaatggtgat ttctttattt catccaaaga tctgggctat gactatagct atctacaaga
     1441 ttcagaccca gactcttttc aagactacat taagtcctat ttggaacaag cgagtcggat
     1501 ctggtcatgg ctccttgggg cggcgatggt aggggccgtc ctcactgccc tgctggcagg
     1561 gcttgtgagc ttgctgtgtc gtcacaagag aaagcagctt cctgaagaaa agcagccact
     1621 cctcatggag aaagaggatt accacagctt gtatcagagc catttataaa aggcttaggc
     1681 aatagagtag ggccaaaaag cctgacctca ctctaactca aagtaatgtc caggttccca
     1741 gagaatatct gctggtattt ttctgtaaag accatttgca aaattgtaac ctaatacaaa
     1801 gtgtagcctt cttccaactc aggtagaaca cacctgtctt tgtcttgctg ttttcactca
     1861 gcccttttaa cattttcccc taagcccata tgtctaagga aaggatgcta tttggtaatg
     1921 aggaactgtt atttgtatgt gaattaaagt gctcttattt taaaaaattg aaataatttt
     1981 gatttttgcc ttctgattat ttaaagatct atatatgttt tattggcccc ttctttattt
     2041 taataaaaca gtgagaaatc ta
//
