ID:TYRP1_HUMAN DESCRIPTION: RecName: Full=5,6-dihydroxyindole-2-carboxylic acid oxidase; Short=DHICA oxidase; EC=1.14.18.-; AltName: Full=Catalase B; AltName: Full=Glycoprotein 75; AltName: Full=Melanoma antigen gp75; AltName: Full=Tyrosinase-related protein 1; Short=TRP; Short=TRP-1; Short=TRP1; Flags: Precursor; FUNCTION: Oxidation 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. COFACTOR: Binds 2 copper ions per subunit (By similarity). PATHWAY: Pigment biosynthesis; melanin biosynthesis. SUBCELLULAR LOCATION: Melanosome membrane; Single-pass type I membrane protein (By similarity). 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). TISSUE SPECIFICITY: Pigment cells. POLYMORPHISM: Genetic 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. DISEASE: Defects in TYRP1 are the cause of albinism oculocutaneous type 3 (OCA3) [MIM:203290]; also known as Rufous oculocutaneous albinism. 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. SIMILARITY: Belongs to the tyrosinase family. WEB RESOURCE: Name=Mutations of the TYRP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/trp1mut.htm"; WEB RESOURCE: Name=Albinism database (ADB); Note=TYRP1 mutations; URL="http://albinismdb.med.umn.edu/oca3mut.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P17643
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
