TYRP1

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Tyrosinase-related protein 1
Identifiers
Symbols TYRP1 ; CAS2; CATB; GP75; OCA3; TRP; TRP1; TYRP; b-PROTEIN
External IDs OMIM115501 MGI98881 HomoloGene464 GeneCards: TYRP1 Gene
EC number 1.14.18.-
RNA expression pattern
PBB GE TYRP1 205694 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7306 22178
Ensembl ENSG00000107165 ENSMUSG00000005994
UniProt P17643 P07147
RefSeq (mRNA) NM_000550 NM_031202
RefSeq (protein) NP_000541 NP_112479
Location (UCSC) Chr 9:
12.69 – 12.71 Mb
Chr 4:
80.83 – 80.85 Mb
PubMed search [1] [2]

Tyrosinase-related protein 1, also known as TYRP1, is an enzyme which in humans is encoded by the TYRP1 gene.[1][2]

Function[edit]

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.[3]

Clinical significance[edit]

Mutations in the mouse Tyrp1 gene are associated with brown pelage and in the human TYRP1 gene with oculocutaneous albinism type 3 (OCA3).[3] An allele of TYRP1 common in Solomon Islanders results in blond hair. Although the phenotype is similar to European blond hair, this allele is not found in Europeans.[4][5]

Regulation[edit]

The expression of TYRP1 is regulated by the microphthalmia-associated transcription factor (MITF).[6][7]

Interactions[edit]

TYRP1 has been shown to interact with GIPC1.[8]

See also[edit]

References[edit]

  1. ^ "Entrez Gene: TYRP1 tyrosinase-related protein 1". 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ Sindya N. Bhanoo (3 May 2012). "Another Genetic Quirk of the Solomon Islands: Blond Hair". The New York Times. Retrieved 3 May 2012. 
  5. ^ Kenny, E. E.; Timpson, N. J.; Sikora, M.; Yee, M.-C.; Moreno-Estrada, A.; Eng, C.; Huntsman, S.; Burchard, E. G.; Stoneking, M.; Bustamante, C. D.; Myles, S. (3 May 2012). "Melanesian Blond Hair Is Caused by an Amino Acid Change in TYRP1". Science 336 (6081): 554–554. doi:10.1126/science.1217849. PMC 3481182. PMID 22556244. 
  6. ^ 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. 
  7. ^ 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. 
  8. ^ Liu, T F; 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. (United States) 276 (38): 35768–77. doi:10.1074/jbc.M103585200. ISSN 0021-9258. PMID 11441007. 

Further reading[edit]