TYRP1

TYRP1
Identifiers
Aliases	TYRP1, CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP, b-PROTEIN, tyrosinase related protein 1
External IDs	MGI: 98881 HomoloGene: 464 GeneCards: TYRP1
Gene ontology Molecular function • protein homodimerization activity • 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 • metal ion binding • monooxygenase activity • protein binding • protein heterodimerization activity • copper ion binding • oxidoreductase activity Cellular component • integral component of membrane • clathrin-coated endocytic vesicle membrane • membrane • melanosome • endosome membrane • melanosome membrane Biological process • melanin metabolic process • melanosome organization • positive regulation of melanin biosynthetic process • pigmentation • metabolic process • melanocyte differentiation • acetoacetic acid metabolic process • oxidation-reduction process • melanin biosynthetic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7306	22178
Ensembl	ENSG00000107165	ENSMUSG00000005994
UniProt	P17643	P07147
RefSeq (mRNA)	NM_000550	NM_001282014 NM_001282015 NM_031202
RefSeq (protein)	NP_000541	NP_001268943.1 NP_001268944.1 NP_112479.1 NP_001268943 NP_001268944 NP_112479
Location (UCSC)	Chr 9: 12.69 – 12.71 Mb	Chr 4: 80.83 – 80.85 Mb
PubMed search

7306

22178

ENSG00000107165

ENSMUSG00000005994

P17643

P07147

NM_000550

NM_001282014
NM_001282015
NM_031202

NP_000541

NP_112479

Tyrosinase-related protein 1, also known as TYRP1, is an enzyme which in humans is encoded by the TYRP1 gene.

Tyrp1 is a melanocyte-specific gene product involved in melanin synthesis. While mouse Tyrp1 possesses dihydroxyindole carboxylic acid oxidase activity, the function in human melanocytes is less clear. In addition to its role in melanin synthesis, Tyrp1 is involved in stabilizing of tyrosinase protein and modulating its catalytic activity. Tyrp1 is also involved in maintenance of melanosome structure and affects melanocyte proliferation and melanocyte cell death.

Mutations in the mouse Tyrp1 gene are associated with brown pelage and in the human TYRP1 gene with oculocutaneous albinism type 3 (OCA3). An allele of TYRP1 common in Solomon Islanders results in blond hair. Although the phenotype is similar to Northern European blond hair, this allele is not found in Europeans.

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Wikipedia