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Gene Review

TYRP1  -  tyrosinase-related protein 1

Homo sapiens

Synonyms: 5,6-dihydroxyindole-2-carboxylic acid oxidase, CAS2, CATB, Catalase B, DHICA oxidase, ...
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Disease relevance of TYRP1

  • Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene [1].
  • In one family, two siblings with a phenotypically unclassified form of albinism were found to be compound heterozygotes for mutations (S166X/368delA) at the TYRP1 locus and were heterozygous for a common 2.7-kb deletion in the P gene [1].
  • Overall, TYR mRNA was detected in 15 of the 43 melanoma patients (34.9%), and TYRP1 mRNA in 16 of the 43 (37.2%) [2].
  • Co-infection of the recombinant adenoviruses carrying tyrosinase (Ad-HT) and TRP-1 (Ad-TRP-1) resulted in the enhancement of tyrosinase activity and melanin production compared to a single infection of Ad-HT [3].
  • In contrast, sera from 20 controls, 10 patients with Hashimoto's thyroiditis and 10 patients with Graves' disease were all negative for TRP-1 antibodies [4].

Psychiatry related information on TYRP1

  • The amyloid b-protein (Ab) deposited in Alzheimer's disease (AD) is a normally secreted proteolytic product of the amyloid b-protein precursor (APP) [5].
  • Animals sense temperature - either cold or hot - by the direct activation of temperature-sensitive members of the TRP family of ion channels, the thermo-TRPs [6].
  • We report a boy with a trichorhinophalangeal syndrome (TRP syndrome), severe mental retardation, and transient megacephaly, whose karyotype showed complex, apparently balanced, translocations with breakpoints in bands 3q13, 8p22, 8q13, 11p12, and 11q21 [7].
  • The relationship of the TRP/LNAA ratio to excessive exercise and starvation indicates the importance of further investigations exploring the role of tryptophan availability in maintaining anorexia nervosa [8].
  • Analysis of cytokine mRNA production after in vitro culture with parasite-derived antigens (EPI or TRP) or anti-epimastigote antibodies (Id) showed that these two classes of stimuli induced distinct cytokine responses [9].

High impact information on TYRP1

  • A new TRP to kidney disease [10].
  • Our identification of a cold-sensing TRP channel in a distinct subpopulation of sensory neurons implicates an expanded role for this family of ion channels in somatic sensory detection [11].
  • A TRP channel that senses cold stimuli and menthol [11].
  • Instead, they contained dendritic cells that express melanogenic marker proteins such as tyrosinase and tyrosinase-related protein 1 [12].
  • Here, we describe a novel, naked DNA vaccine encoding an alphavirus replicon (self-replicating mRNA) and the self/tumor antigen tyrosinase-related protein-1 [13].

Chemical compound and disease context of TYRP1


Biological context of TYRP1

  • ROCA, which in southern African Blacks is caused by mutations in the TYRP1 gene, therefore should be referred to as "OCA3," since this is the third locus that has been shown to cause an OCA phenotype in humans [1].
  • Linkage analysis performed on nine ROCA families showed that ROCA was linked to an intragenic marker at the TYRP1 locus (maximum LOD score = 3.80 at straight theta=.00) [1].
  • The TYRP1 protein is encoded in 7 exons spread over 24 kb of genomic DNA [18].
  • The evidence also suggests that at least some of the introns within the TYR, TYRP1, and TYRP2 coding regions were gained after duplication and that intron slippage is unlikely to have occurred [18].
  • Two mutations were found in the TYRP1 gene: a missense mutation (c.1066G>A/p.Arg356Glu) that was inherited from the mother, and a de novo single-base deletion (c.106delT/p.Leu36X) [19].

Anatomical context of TYRP1


Associations of TYRP1 with chemical compounds


Physical interactions of TYRP1

  • Tyrosinase, Tyrp1 and Dct promoters contain a motif termed E-box which is bound by the transcription factor Mitf [29].

Regulatory relationships of TYRP1


Other interactions of TYRP1

  • We conclude that this mutation of the human TRP-1 gene affects its interaction with tyrosinase, resulting in dysregulation of tyrosinase activity, promotes the synthesis of brown versus black melanin, and is responsible for a third genetic type of OCA in humans, which we classify as "OCA3."[32]
  • This novel 3'-untranslated region contains an alternatively spliced, tyrosinase-related protein-2 last exon in the second isoform (tyrosinase-related protein-2-8b) [22].
  • Nucleotide deletion analysis revealed novel regulatory sequences that attenuate the M box-dependent MITF activity, but which are not involved in the repression of TYRP1 [31].
  • Mammalian tyrosinase-related protein-1 is recognized by autoantibodies from vitiliginous Smyth chickens. An avian model for human vitiligo [33].
  • In the presence of Rab7N125I, however, TRP-1 was retained in the EEA-1-positive granules [3].

Analytical, diagnostic and therapeutic context of TYRP1


  1. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Manga, P., Kromberg, J.G., Box, N.F., Sturm, R.A., Jenkins, T., Ramsay, M. Am. J. Hum. Genet. (1997) [Pubmed]
  2. Detection of tyrosinase and tyrosinase-related protein 1 sequences from peripheral blood of melanoma patients using reverse transcription-polymerase chain reaction. Jin, H.Y., Yamashita, T., Minamitsuji, Y., Omori, F., Jimbow, K. J. Dermatol. Sci. (2003) [Pubmed]
  3. Tyrosinase and tyrosinase-related protein 1 require Rab7 for their intracellular transport. Hirosaki, K., Yamashita, T., Wada, I., Jin, H.Y., Jimbow, K. J. Invest. Dermatol. (2002) [Pubmed]
  4. Autoantibodies to tyrosinase-related protein-1 detected in the sera of vitiligo patients using a quantitative radiobinding assay. Kemp, E.H., Waterman, E.A., Gawkrodger, D.J., Watson, P.F., Weetman, A.P. Br. J. Dermatol. (1998) [Pubmed]
  5. Cell-free assays for gamma-secretase activity. McLendon, C., Xin, T., Ziani-Cherif, C., Murphy, M.P., Findlay, K.A., Lewis, P.A., Pinnix, I., Sambamurti, K., Wang, R., Fauq, A., Golde, T.E. FASEB J. (2000) [Pubmed]
  6. Modulation of temperature-sensitive TRP channels. Huang, J., Zhang, X., McNaughton, P.A. Semin. Cell Dev. Biol. (2006) [Pubmed]
  7. Complex translocation in a boy with trichorhinophalangeal syndrome. Sánchez, L.M., Labarta, J.D., De Negrotti, T.C., Migliorini, A.M. J. Med. Genet. (1985) [Pubmed]
  8. Tryptophan levels, excessive exercise, and nutritional status in anorexia nervosa. Favaro, A., Caregaro, L., Burlina, A.B., Santonastaso, P. Psychosomatic medicine. (2000) [Pubmed]
  9. Cytokine mRNA profile of peripheral blood mononuclear cells isolated from individuals with Trypanosoma cruzi chronic infection. Dutra, W.O., Gollob, K.J., Pinto-Dias, J.C., Gazzinelli, G., Correa-Oliveira, R., Coffman, R.L., Carvalho-Parra, J.F. Scand. J. Immunol. (1997) [Pubmed]
  10. A new TRP to kidney disease. Gudermann, T. Nat. Genet. (2005) [Pubmed]
  11. A TRP channel that senses cold stimuli and menthol. Peier, A.M., Moqrich, A., Hergarden, A.C., Reeve, A.J., Andersson, D.A., Story, G.M., Earley, T.J., Dragoni, I., McIntyre, P., Bevan, S., Patapoutian, A. Cell (2002) [Pubmed]
  12. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics. Tachibana, M., Takeda, K., Nobukuni, Y., Urabe, K., Long, J.E., Meyers, K.A., Aaronson, S.A., Miki, T. Nat. Genet. (1996) [Pubmed]
  13. Alphavirus-based DNA vaccine breaks immunological tolerance by activating innate antiviral pathways. Leitner, W.W., Hwang, L.N., deVeer, M.J., Zhou, A., Silverman, R.H., Williams, B.R., Dubensky, T.W., Ying, H., Restifo, N.P. Nat. Med. (2003) [Pubmed]
  14. TYRP2-mediated resistance to cis-diamminedichloroplatinum (II) in human melanoma cells is independent of tyrosinase and TYRP1 expression and melanin content. Pak, B.J., Li, Q., Kerbel, R.S., Ben-David, Y. Melanoma Res. (2000) [Pubmed]
  15. Identification of a gene encoding a melanoma tumor antigen recognized by HLA-A31-restricted tumor-infiltrating lymphocytes. Wang, R.F., Robbins, P.F., Kawakami, Y., Kang, X.Q., Rosenberg, S.A. J. Exp. Med. (1995) [Pubmed]
  16. alpha-Tocopherol-mediated long-lasting protection against oxidative damage involves an attenuation of calcium entry through TRP-like channels in cultured hippocampal neurons. Crouzin, N., de Jesus Ferreira, M.C., Cohen-Solal, C., Aimar, R.F., Vignes, M., Guiramand, J. Free Radic. Biol. Med. (2007) [Pubmed]
  17. Recent results of health examinations on the general population in cadmium-polluted and control areas in Japan. Shigematsu, I., Minowa, M., Yoshida, T., Miyamoto, K. Environ. Health Perspect. (1979) [Pubmed]
  18. Chromosomal structure of the human TYRP1 and TYRP2 loci and comparison of the tyrosinase-related protein gene family. Sturm, R.A., O'Sullivan, B.J., Box, N.F., Smith, A.G., Smit, S.E., Puttick, E.R., Parsons, P.G., Dunn, I.S. Genomics (1995) [Pubmed]
  19. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Rooryck, C., Roudaut, C., Robine, E., Müsebeck, J., Arveiler, B. Pigment Cell Res. (2006) [Pubmed]
  20. A model for melanosome biogenesis based on the purification and analysis of early melanosomes. Kushimoto, T., Basrur, V., Valencia, J., Matsunaga, J., Vieira, W.D., Ferrans, V.J., Muller, J., Appella, E., Hearing, V.J. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  21. Tyrp1 and oculocutaneous albinism type 3. Sarangarajan, R., Boissy, R.E. Pigment Cell Res. (2001) [Pubmed]
  22. Human melanocytes and melanomas express novel mRNA isoforms of the tyrosinase-related protein-2/DOPAchrome tautomerase gene: molecular and functional characterization. Pisarra, P., Lupetti, R., Palumbo, A., Napolitano, A., Prota, G., Parmiani, G., Anichini, A., Sensi, M. J. Invest. Dermatol. (2000) [Pubmed]
  23. Comparison of the melanogenesis in human black and light brown melanocytes. Maeda, K., Yokokawa, Y., Hatao, M., Naganuma, M., Tomita, Y. J. Dermatol. Sci. (1997) [Pubmed]
  24. Quantification of tyrosinase, TRP-1, and Trp-2 transcripts in human melanocytes by reverse transcriptase-competitive multiplex PCR--regulation by steroid hormones. Kippenberger, S., Loitsch, S., Solano, F., Bernd, A., Kaufmann, R. J. Invest. Dermatol. (1998) [Pubmed]
  25. Expression studies of pigmentation and POU-domain genes in human melanoma cells. Sturm, R.A., O'Sullivan, B.J., Thomson, J.A., Jamshidi, N., Pedley, J., Parsons, P.G. Pigment Cell Res. (1994) [Pubmed]
  26. Human melanoma cell lines show little relationship between expression of pigmentation genes and pigmentary behaviour in vitro. Eberle, J., Wagner, M., MacNeil, S. Pigment Cell Res. (1998) [Pubmed]
  27. Differential regulation of melanosomal proteins after hinokitiol treatment. Choi, Y.G., Bae, E.J., Kim, D.S., Park, S.H., Kwon, S.B., Na, J.I., Park, K.C. J. Dermatol. Sci. (2006) [Pubmed]
  28. The expression of melanogenic proteins in Korean skin after ultraviolet irradiation. Kim, T.J., Cho, M.K., Lee, J.S., Whang, K.U., Jin, S.Y., Hoshino, T. J. Dermatol. (2003) [Pubmed]
  29. Genetics of pigment cells: lessons from the tyrosinase gene family. Murisier, F., Beermann, F. Histol. Histopathol. (2006) [Pubmed]
  30. Tyrosinase-related proteins suppress tyrosinase-mediated cell death of melanocytes and melanoma cells. Rad, H.H., Yamashita, T., Jin, H.Y., Hirosaki, K., Wakamatsu, K., Ito, S., Jimbow, K. Exp. Cell Res. (2004) [Pubmed]
  31. Selective down-regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor, MITF. Fang, D., Tsuji, Y., Setaluri, V. Nucleic Acids Res. (2002) [Pubmed]
  32. 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". Boissy, R.E., Zhao, H., Oetting, W.S., Austin, L.M., Wildenberg, S.C., Boissy, Y.L., Zhao, Y., Sturm, R.A., Hearing, V.J., King, R.A., Nordlund, J.J. Am. J. Hum. Genet. (1996) [Pubmed]
  33. Mammalian tyrosinase-related protein-1 is recognized by autoantibodies from vitiliginous Smyth chickens. An avian model for human vitiligo. Austin, L.M., Boissy, R.E. Am. J. Pathol. (1995) [Pubmed]
  34. Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Murty, V.V., Bouchard, B., Mathew, S., Vijayasaradhi, S., Houghton, A.N. Genomics (1992) [Pubmed]
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