TYRP1

TYRP1
Identifiers
Aliases	TYRP1, CAS2, CATB, GP75, OCA3, TRP, TRP1, TYRP, b-PROTEIN, tyrosinase related protein 1
External IDs	OMIM: 115501; MGI: 98881; HomoloGene: 464; GeneCards: TYRP1; OMA:TYRP1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9p23 Start 12,685,439 bp End 12,710,285 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 C3|4 37.89 cM Start 80,752,360 bp End 80,769,956 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium skin of thigh vulva human penis skin of arm Epithelium of choroid plexus skin of hip nipple right ventricle myocardium of left ventricle Top expressed in iris ciliary body hair follicle retinal pigment epithelium lumbar spinal ganglion epithelium of lens choroid habenula cornea conjunctival fornix More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity metal ion binding monooxygenase activity protein binding protein heterodimerization activity oxidoreductase activity tyrosinase activity Cellular component integral component of membrane clathrin-coated endocytic vesicle membrane membrane melanosome endosome membrane melanosome membrane cytoplasm intracellular vesicle Biological process melanin metabolic process melanosome organization positive regulation of melanin biosynthetic process pigmentation metabolism melanocyte differentiation acetoacetic acid metabolic process melanin biosynthetic process response to thyroid hormone Sources:Amigo / QuickGO
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 NP_001268944 NP_112479 Location (UCSC) Chr 9: 12.69 – 12.71 Mb Chr 4: 80.75 – 80.77 Mb PubMed search
Wikidata
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Tyrosinase-related protein 1, also known as TYRP1, is an enzyme which in humans is encoded by the TYRP1 gene.

Function

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.

Clinical significance

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.

Regulation

The expression of TYRP1 is regulated by the microphthalmia-associated transcription factor (MITF).

Interactions

TYRP1 has been shown to interact with GIPC1.

See also

• Dopachrome tautomerase (DCT; also known as TYRP2)

Further reading

• Sarangarajan R, Boissy RE (2001). "Tyrp1 and oculocutaneous albinism type 3". Pigment Cell Res. 14 (6): 437–44. doi:10.1034/j.1600-0749.2001.140603.x. PMID 11775055.
• Lowings P, Yavuzer U, Goding CR (1992). "Positive and negative elements regulate a melanocyte-specific promoter". Mol. Cell. Biol. 12 (8): 3653–62. PMC 364632. PMID 1321344.
• Shibata K, Takeda K, Tomita Y, Tagami H, Shibahara S (1992). "Downstream region of the human tyrosinase-related protein gene enhances its promoter activity". Biochem. Biophys. Res. Commun. 184 (2): 568–75. doi:10.1016/0006-291X(92)90627-W. PMID 1575733.
• Murty VV, Bouchard B, Mathew S, Vijayasaradhi S, Houghton AN (1992). "Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization". Genomics. 13 (1): 227–9. doi:10.1016/0888-7543(92)90228-K. PMID 1577487.
• Colman MA, Shibahara S, Kwon B, Jenkins T, Ramsay M (1991). "A two allele XbaI RFLP at the catalase 2 locus". Nucleic Acids Res. 19 (4): 960. doi:10.1093/nar/19.4.960-a. PMC 333744. PMID 1673236.
• Halaban R, Moellmann G (1990). "Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity". Proc. Natl. Acad. Sci. U.S.A. 87 (12): 4809–13. doi:10.1073/pnas.87.12.4809. PMC 54207. PMID 1693779.
• Abbott C, Jackson IJ, Carritt B, Povey S (1991). "The human homolog of the mouse brown gene maps to the short arm of chromosome 9 and extends the known region of homology with mouse chromosome 4". Genomics. 11 (2): 471–3. doi:10.1016/0888-7543(91)90160-G. PMID 1769662.
• Chintamaneni CD, Ramsay M, Colman MA, Fox MF, Pickard RT, Kwon BS (1991). "Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter". Biochem. Biophys. Res. Commun. 178 (1): 227–35. doi:10.1016/0006-291X(91)91803-K. PMID 1906272.
• Urquhart A (1991). "Human tyrosinase-like protein (TYRL) carboxy terminus: closer homology with the mouse protein than previously reported". Nucleic Acids Res. 19 (20): 5803. doi:10.1093/nar/19.20.5803. PMC 329017. PMID 1945866.
• Cohen T, Muller RM, Tomita Y, Shibahara S (1990). "Nucleotide sequence of the cDNA encoding human tyrosinase-related protein". Nucleic Acids Res. 18 (9): 2807–8. doi:10.1093/nar/18.9.2807. PMC 330768. PMID 2111010.
• Vijayasaradhi S, Bouchard B, Houghton AN (1990). "The melanoma antigen gp75 is the human homologue of the mouse b (brown) locus gene product". J. Exp. Med. 171 (4): 1375–80. doi:10.1084/jem.171.4.1375. PMC 2187848. PMID 2324688.
• Box NF, Sturm RA (1994). "Dinucleotide repeat polymorphism at the human TYRP1 locus". Hum. Mol. Genet. 3 (12): 2270. doi:10.1093/hmg/3.12.2270. PMID 7881448.
• Orlow SJ, Zhou BK, Chakraborty AK, Drucker M, Pifko-Hirst S, Pawelek JM (1994). "High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex". J. Invest. Dermatol. 103 (2): 196–201. doi:10.1111/1523-1747.ep12392743. PMID 8040609.
• Sturm RA, O'Sullivan BJ, Box NF, Smith AG, Smit SE, Puttick ER, Parsons PG, Dunn IS (1995). "Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family". Genomics. 29 (1): 24–34. doi:10.1006/geno.1995.1211. PMID 8530077.
• Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ (1996). "Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"". Am. J. Hum. Genet. 58 (6): 1145–56. PMC 1915069. PMID 8651291.
• Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M (1997). "Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene". Am. J. Hum. Genet. 61 (5): 1095–101. doi:10.1086/301603. PMC 1716031. PMID 9345097.
• Box NF, Wyeth JR, Mayne CJ, O'Gorman LE, Martin NG, Sturm RA (1998). "Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1". Mamm. Genome. 9 (1): 50–3. doi:10.1007/s003359900678. PMID 9434945.
• Bertolotto C, Buscà R, Abbe P, Bille K, Aberdam E, Ortonne JP, Ballotti R (1998). "Different cis-acting elements are involved in the regulation of TRP1 and TRP2 promoter activities by cyclic AMP: pivotal role of M boxes (GTCATGTGCT) and of microphthalmia". Mol. Cell. Biol. 18 (2): 694–702. doi:10.1128/mcb.18.2.694. PMC 108780. PMID 9447965.
• Abe T, Sato M, Tamai M (1998). "Dedifferentiation of the retinal pigment epithelium compared to the proliferative membranes of proliferative vitreoretinopathy". Curr. Eye Res. 17 (12): 1103–9. doi:10.1076/ceyr.17.12.1103.5126. PMID 9872531.
• Commo S, Bernard BA (2000). "Melanocyte subpopulation turnover during the human hair cycle: an immunohistochemical study". Pigment Cell Res. 13 (4): 253–9. doi:10.1034/j.1600-0749.2000.130407.x. PMID 10952393.