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    TYR tyrosinase [ Homo sapiens (human) ]

    Gene ID: 7299, updated on 3-Sep-2017
    Official Symbol
    TYRprovided by HGNC
    Official Full Name
    tyrosinaseprovided by HGNC
    Primary source
    HGNC:HGNC:12442
    See related
    Ensembl:ENSG00000077498 MIM:606933; Vega:OTTHUMG00000167294
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ATN; CMM8; OCA1; OCA1A; OCAIA; SHEP3
    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]
    Orthologs
    Location:
    11q14.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (89177565..89295759)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (88911040..89028927)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929174 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 70 Neighboring gene GRM5 antisense RNA 1 Neighboring gene glutamate metabotropic receptor 5 Neighboring gene uncharacterized LOC107984363 Neighboring gene chromobox 3 pseudogene 7 Neighboring gene NADPH oxidase 4 Neighboring gene folate hydrolase 1B

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genomewide association study of skin pigmentation in a South Asian population.
    NHGRI GWA Catalog
    Genetic determinants of hair, eye and skin pigmentation in Europeans.
    NHGRI GWA Catalog
    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
    NHGRI GWA Catalog
    Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
    NHGRI GWA Catalog
    Genome-wide association study identifies three loci associated with melanoma risk.
    NHGRI GWA Catalog
    Genome-wide association study identifies three new melanoma susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide association study of tanning phenotype in a population of European ancestry.
    NHGRI GWA Catalog
    Identification of a melanoma susceptibility locus and somatic mutation in TET2.
    NHGRI GWA Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    NHGRI GWA Catalog
    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
    NHGRI GWA Catalog
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    copper ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    monophenol monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    eye pigment biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    melanin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanin biosynthetic process TAS
    Traceable Author Statement
    more info
     
    melanin biosynthetic process from tyrosine TAS
    Traceable Author Statement
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    response to UV IEA
    Inferred from Electronic Annotation
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi-associated vesicle TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    colocalizes_with melanosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    melanosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanosome membrane TAS
    Traceable Author Statement
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    tyrosinase
    Names
    LB24-AB
    SK29-AB
    monophenol monooxygenase
    oculocutaneous albinism IA
    tumor rejection antigen AB
    NP_000363.1
    XP_011541272.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008748.1 RefSeqGene

      Range
      5001..122888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000372.4NP_000363.1  tyrosinase precursor

      See identical proteins and their annotated locations for NP_000363.1

      Status: REVIEWED

      Source sequence(s)
      BU736025, M27160
      Consensus CDS
      CCDS8284.1
      UniProtKB/Swiss-Prot
      P14679
      UniProtKB/TrEMBL
      L8B082
      Related
      ENSP00000263321.4, OTTHUMP00000235653, ENST00000263321.5, OTTHUMT00000394045
      Conserved Domains (1) summary
      pfam00264
      Location:171403
      Tyrosinase; Common central domain of tyrosinase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      89177565..89295759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542970.2XP_011541272.1  tyrosinase isoform X1

      Conserved Domains (1) summary
      pfam00264
      Location:171403
      Tyrosinase; Common central domain of tyrosinase

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      88794044..88911928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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