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Description for Protein TYR

tyrosinase (oculocutaneous albinism IA)
3 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.14.18.1
    KEGG - Orthology:
    K00505
    KEGG - Pathway(s):
    hsa00350; hsa00740; hsa01100; hsa04916
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    -
    Approved Symbol:
    TYR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Azelaic Acid(db);
  • Mimosine(db);
  • Monobenzone(db);
  • NADH(db)

    Associated Genetic Diseases:

  • Albinism, ocular, autosomal recessive(Pd);
  • Albinism, oculocutaneous type I, temperature-sensitive(Pd);
  • Albinism, oculocutaneous, type IA(Pd);
  • Albinism, oculocutaneous, type IB(Pd);
  • Tyrosinase polymorphism(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 06086 Entrez Gene ID: 7299 OMIM ID: 606933 Swissprot Accession: P14679;