| UniProt Protein Function: | TYRP1: 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. Defects in TYRP1 are the cause of albinism oculocutaneous type 3 (OCA3); 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. Belongs to the tyrosinase family. Protein type: EC 1.14.18.-; Oxidoreductase; Amino Acid Metabolism - tyrosine; Membrane protein, integral Chromosomal Location of Human Ortholog: 9p23 Cellular Component: melanosome membrane; integral to membrane; melanosome; endosome membrane Molecular Function: protein binding; protein homodimerization activity; copper ion binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen; protein heterodimerization activity Biological Process: melanin biosynthetic process; melanosome organization and biogenesis; melanocyte differentiation; acetoacetic acid metabolic process Disease: Albinism, Oculocutaneous, Type Iii; Skin/hair/eye Pigmentation, Variation In, 11 |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009] |
| UniProt Code: | P17643 |
| NCBI GenInfo Identifier: | 12644141 |
| NCBI Gene ID: | 7306 |
| NCBI Accession: | P17643.2 |
| UniProt Secondary Accession: | P17643,P78468, P78469, Q13721, Q15679 |
| UniProt Related Accession: | P17643 |
| Molecular Weight: | 60,724 Da |
| NCBI Full Name: | 5,6-dihydroxyindole-2-carboxylic acid oxidase |
| NCBI Synonym Full Names: | tyrosinase-related protein 1 |
| NCBI Official Symbol: | TYRP1 |
| NCBI Official Synonym Symbols: | TRP; CAS2; CATB; GP75; OCA3; TRP1; TYRP; b-PROTEIN |
| NCBI Protein Information: | 5,6-dihydroxyindole-2-carboxylic acid oxidase; catalase B; DHICA oxidase; glycoprotein 75; melanoma antigen gp75 |
| UniProt Protein Name: | 5,6-dihydroxyindole-2-carboxylic acid oxidase |
| UniProt Synonym Protein Names: | Catalase B; Glycoprotein 75; Melanoma antigen gp75; Tyrosinase-related protein 1; TRP; TRP-1; TRP1 |
| Protein Family: | 5,6-dihydroxyindole-2-carboxylic acid oxidase |
| UniProt Gene Name: | TYRP1 |
| UniProt Entry Name: | TYRP1_HUMAN |
