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    TYR tyrosinase [ Homo sapiens (human) ]

    Gene ID: 7299, updated on 1-Jul-2024

    Summary

    Official Symbol
    TYRprovided by HGNC
    Official Full Name
    tyrosinaseprovided by HGNC
    Primary source
    HGNC:HGNC:12442
    See related
    Ensembl:ENSG00000077498 MIM:606933; AllianceGenome:HGNC:12442
    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]
    Expression
    Restricted expression toward skin (RPKM 11.8) See more
    Orthologs
    NEW
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    Genomic context

    See TYR in Genome Data Viewer
    Location:
    11q14.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (89177875..89295759)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (89097534..89215415)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (88911043..89028927)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3833 Neighboring gene Sharpr-MPRA regulatory region 7525 Neighboring gene GRM5 antisense RNA 1 Neighboring gene glutamate metabotropic receptor 5 Neighboring gene RNA, U6 small nuclear 16, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr11:88521820-88522321 Neighboring gene tyrosinase 5' upstream regulatory sequence Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:88914222-88914816 Neighboring gene CBX3 pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 6977 Neighboring gene NADPH oxidase 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:89189921-89190421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:89224088-89224794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:89224795-89225501 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:89304186-89305004 Neighboring gene Sharpr-MPRA regulatory region 15382 Neighboring gene uncharacterized LOC124902843 Neighboring gene H3 histone pseudogene 34

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables copper ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables tyrosinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tyrosinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye pigment biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in melanin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in melanin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in melanin biosynthetic process from tyrosine TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in pigmentation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to UV IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to blue light IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi-associated vesicle TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in melanosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in melanosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    tyrosinase
    Names
    LB24-AB
    SK29-AB
    monophenol monooxygenase
    oculocutaneous albinism IA
    tumor rejection antigen AB
    NP_000363.1
    XP_011541272.1
    XP_054225790.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5004..122888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000372.5NP_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, Q15675, Q15676, Q15680, Q8TAK4, Q9BYY0, Q9BZX1
      UniProtKB/TrEMBL
      A0A024DBG7, L8B082, L8B086, L8B0B9, U3M8N0, U3M9D5, U3M9J2
      Related
      ENSP00000263321.4, ENST00000263321.6
      Conserved Domains (1) summary
      pfam00264
      Location:171403
      Tyrosinase; Common central domain of tyrosinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      89177875..89295759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542970.3XP_011541272.1  tyrosinase isoform X1

      UniProtKB/TrEMBL
      A0A024DBG7, L8B086, L8B0B9, U3M8N0, U3M9D5, U3M9J2
      Conserved Domains (1) summary
      pfam00264
      Location:171403
      Tyrosinase; Common central domain of tyrosinase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      89097534..89215415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369815.1XP_054225790.1  tyrosinase isoform X1

      UniProtKB/TrEMBL
      L8B0B9