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 | ||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
| Orthologs | |||||||||||||||||||||||||
| Species | Human | Mouse | |||||||||||||||||||||||
| Entrez | |||||||||||||||||||||||||
| Ensembl | |||||||||||||||||||||||||
| UniProt | |||||||||||||||||||||||||
| RefSeq (mRNA) | |||||||||||||||||||||||||
| RefSeq (protein) | |||||||||||||||||||||||||
| Location (UCSC) | Chr 9: 12.69 – 12.71 Mb | Chr 4: 80.75 – 80.77 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||
| |||||||||||||||||||||||||
Tyrosinase-related protein 1, also known as TYRP1, is an enzyme which in humans is encoded by the TYRP1 gene.[5][6]
Function[]
Tyrp1 is a melanocyte-specific gene product involved in melanin synthesis. While most 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.[7]
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).[7] 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.[8][9]
More recent Norton et al. 2016 study found TYRP1 is not associated with blond hair color in Melanesians as many populations in Oceania did not carry TYRP1 alleles but still displayed blondism, study indicates that additional unknown alleles contribute to the blondism phenotype in Melanesians.[10]
Regulation[]
The expression of TYRP1 is regulated by the microphthalmia-associated transcription factor (MITF).[11][12]
Interactions[]
TYRP1 has been shown to interact with GIPC1.[13]
See also[]
- Dopachrome tautomerase (DCT; also known as TYRP2)
References[]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000107165 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005994 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ EntrezGene 7306
- ^ Box NF, Wyeth JR, Mayne CJ, O'Gorman LE, Martin NG, Sturm RA (January 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. S2CID 10020827.
- ^ a b Sarangarajan R, Boissy RE (December 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.
- ^ Sindya N. Bhanoo (3 May 2012). "Another Genetic Quirk of the Solomon Islands: Blond Hair". The New York Times. Retrieved 3 May 2012.
- ^ Kenny EE, Timpson NJ, Sikora M, Yee MC, Moreno-Estrada A, Eng C, Huntsman S, Burchard EG, Stoneking M, Bustamante CD, Myles S (3 May 2012). "Melanesian blond hair is caused by an amino acid change in TYRP1". Science. 336 (6081): 554. Bibcode:2012Sci...336..554K. doi:10.1126/science.1217849. PMC 3481182. PMID 22556244.
- ^ Norton, Heather L.; Hanna, Megan; Werren, Elizabeth; Friedlaender, Jonathan (May 2016). "The rs387907171 SNP in TYRP1 is not associated with blond hair color on the Island of Bougainville". American Journal of Human Biology. 28 (3): 431–435. doi:10.1002/ajhb.22795. PMID 26450459. S2CID 13727757.
- ^ Fang D, Tsuji Y, Setaluri V (2002). "Selective down-regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor, MITF". Nucleic Acids Res. 30 (14): 3096–106. doi:10.1093/nar/gkf424. PMC 135745. PMID 12136092.
- ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ^ Liu TF, Kandala G, Setaluri V (September 2001). "PDZ domain protein GIPC interacts with the cytoplasmic tail of melanosomal membrane protein gp75 (tyrosinase-related protein-1)". J. Biol. Chem. 276 (38): 35768–77. doi:10.1074/jbc.M103585200. PMID 11441007.
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. doi:10.1128/MCB.12.8.3653. 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. Bibcode:1990PNAS...87.4809H. 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. S2CID 10020827.
- 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.
External links[]
Categories:
- Genes on human chromosome 9