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MGP003232

UniProt Annotations

Entry Information
Gene Nametyrosinase-related protein 1
Protein EntryTYRP1_HUMAN
UniProt IDP17643
SpeciesHuman
Comments
Comment typeDescription
CofactorName=Cu(2+); Xref=ChEBI:CHEBI:29036; Evidence={ECO:0000250}; Note=Binds 2 copper ions per subunit. {ECO:0000250};
DiseaseAlbinism, oculocutaneous, 3 (OCA3) [MIM:203290]: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair. {ECO:0000269|PubMed:16704458}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionOxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. May regulate or influence the type of melanin synthesized.
InteractionO14908:GIPC1; NbExp=3; IntAct=EBI-7900408, EBI-373132;
PathwayPigment biosynthesis; melanin biosynthesis.
PolymorphismGenetic variants in TYRP1 define the skin/hair/eye pigmentation variation locus 11 (SHEP11) [MIM:612271] and are responsible for variability in hair color linked to chromosome 9p23 in Melanesians. 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.
SimilarityBelongs to the tyrosinase family. {ECO:0000305}.
Subcellular LocationMelanosome membrane {ECO:0000250}; Single- pass type I membrane protein {ECO:0000250}. Note=Located to mature stage III and IV melanosomes and apposed endosomal tubular membranes. Transported to pigmented melanosomes by the BLOC-1 complex (By similarity). {ECO:0000250}.
Tissue SpecificityPigment cells.
Web ResourceName=Albinism database (ADB); Note=TYRP1 mutations; URL="http://albinismdb.med.umn.edu/oca3mut.html";
Web ResourceName=Mutations of the TYRP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/trp1mut.htm";
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