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MGP003230

UniProt Annotations

Entry Information
Gene Nametyrosinase
Protein EntryTYRO_HUMAN
UniProt IDP14679
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P14679-1; Sequence=Displayed; Name=2; IsoId=P14679-2; Sequence=VSP_006701, VSP_006702; Note=No experimental confirmation available.;
Catalytic Activity2 L-dopa + O(2) = 2 dopaquinone + 2 H(2)O.
Catalytic ActivityL-tyrosine + O(2) = dopaquinone + H(2)O.
CofactorName=Cu(2+); Xref=ChEBI:CHEBI:29036; Note=Binds 2 copper ions per subunit.;
DiseaseAlbinism, oculocutaneous, 1A (OCA1A) [MIM:203100]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia. {ECO:0000269|PubMed:10571953, ECO:0000269|PubMed:10671066, ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:11295837, ECO:0000269|PubMed:11858948, ECO:0000269|PubMed:1487241, ECO:0000269|PubMed:15146472, ECO:0000269|PubMed:1642278, ECO:0000269|PubMed:1899321, ECO:0000269|PubMed:1943686, ECO:0000269|PubMed:1970634, ECO:0000269|PubMed:2342539, ECO:0000269|PubMed:24934919, ECO:0000269|PubMed:7902671, ECO:0000269|PubMed:7955413, ECO:0000269|PubMed:8128955, ECO:0000269|PubMed:8644824, ECO:0000269|PubMed:9259202}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseAlbinism, oculocutaneous, 1B (OCA1B) [MIM:606952]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C. {ECO:0000269|PubMed:10987646, ECO:0000269|PubMed:1900309, ECO:0000269|PubMed:1903591, ECO:0000269|PubMed:8128955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThis is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the rate-limiting conversions of tyrosine to DOPA, DOPA to DOPA-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone.
InductionIncreased expression after UVB irradiation.
PolymorphismCompound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism (WS2-OA) in association with a deletion in the MITF gene.
PolymorphismGenetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIM:601800]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.
Sequence CautionSequence=AAA61241.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA68756.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the tyrosinase family. {ECO:0000305}.
Subcellular LocationMelanosome membrane {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}; Single-pass type I membrane protein {ECO:0000269|PubMed:12643545, ECO:0000269|PubMed:17081065}.
Web ResourceName=Albinism database (ADB); Note=TYR mutations; URL="http://albinismdb.med.umn.edu/oca1mut.html";
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TYRID42738ch11q14.html";
Web ResourceName=Mutations of the TYR gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/tyrmut.htm";
Web ResourceName=Protein Spotlight; Note=Snowy stardom - Issue 49 of August 2004; URL="http://web.expasy.org/spotlight/back_issues/049";
Web ResourceName=Wikipedia; Note=Tyrosinase entry; URL="http://en.wikipedia.org/wiki/Tyrosinase";
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