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Gene Review

GPR143  -  G protein-coupled receptor 143

Homo sapiens

Synonyms: G-protein coupled receptor 143, NYS6, OA1, Ocular albinism type 1 protein
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Disease relevance of GPR143


Psychiatry related information on GPR143

  • Ocular albinism type 1 (OA1) is an X-linked disorder, mainly characterized by a severe reduction in visual acuity, foveal hypoplasia, nystagmus, hypopigmentation of the retina, the presence of macromelanosomes in the skin and eyes, and the misrouting of optic pathways, resulting in the loss of stereoscopic vision [5].
  • In this paper, we describe a 14 7/12 year old Japanese boy with mental retardation and an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1, and compare the deletion map with that of previously reported three familial male patients with low-normal intelligence and a similar interstitial deletion at Xp22 [6].

High impact information on GPR143

  • We provide here structural evidence that the protein product of the ocular albinism type 1 gene (OA1), a pigment cell-specific integral membrane glycoprotein, represents a novel member of the GPCR superfamily and demonstrate that it binds heterotrimeric G proteins [7].
  • Moreover, we show that OA1 is not found at the plasma membrane, being instead targeted to specialized intracellular organelles, the melanosomes [7].
  • Our data suggest that OA1 represents the first example of an exclusively intracellular GPCR and support the hypothesis that GPCR-mediated signal transduction systems also operate at the internal membranes in mammalian cells [7].
  • Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome [1].
  • The gene contains 18 exons spanning approximately 150 kb of the genomic region adjacent to the ocular albinism gene (OA1) on the telomeric side [8].

Chemical compound and disease context of GPR143


Biological context of GPR143

  • Southern blot and RFLP analysis in the XI/OA1 family support the order tel-[STS-OA1-DXS278]-DXS9-DXS41-cen [9].
  • If a contiguous gene deletion is responsible for the observed XI/OA1 phenotype, it localizes OA1 to the Xp22.3 region [9].
  • We have characterized the genomic structure of the OA1 gene, which spans approximately 40 kb of genomic DNA and contains nine exons [10].
  • Various types of mutation have been identified within the OA1 gene in patients with the disorder, including several missense mutations of unknown functional significance [11].
  • All nine exons of the OA1 gene, as well as the 5' and 3' untranslated regions, were scanned for point mutations in PCR-amplified DNA from 60 OA1 patients [10].

Anatomical context of GPR143


Associations of GPR143 with chemical compounds

  • The mutations identified include: two frameshifts and a splice site mutation leading to truncated OA1 proteins; a deletion of a threonine codon at position 290; and four missense mutations,two of which involve amino acids located within putative transmembrane domains [10].
  • Upon subcellular fractionation and phase separation with the nonionic detergent Triton X-114, the OA1 protein segregated into the melanosome-rich fraction and behaved as an authentic integral membrane protein [13].
  • Fluorescein angiography of the anterior ocular segment using the Topcon OA-1 ocular camera [14].

Other interactions of GPR143


Analytical, diagnostic and therapeutic context of GPR143


  1. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Bassi, M.T., Schiaffino, M.V., Renieri, A., De Nigris, F., Galli, L., Bruttini, M., Gebbia, M., Bergen, A.A., Lewis, R.A., Ballabio, A. Nat. Genet. (1995) [Pubmed]
  2. OA1 mutations and deletions in X-linked ocular albinism. Schnur, R.E., Gao, M., Wick, P.A., Keller, M., Benke, P.J., Edwards, M.J., Grix, A.W., Hockey, A., Jung, J.H., Kidd, K.K., Kistenmacher, M., Levin, A.V., Lewis, R.A., Musarella, M.A., Nowakowski, R.W., Orlow, S.J., Pagon, R.S., Pillers, D.A., Punnett, H.H., Quinn, G.E., Tezcan, K., Wagstaff, J., Weleber, R.G. Am. J. Hum. Genet. (1998) [Pubmed]
  3. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Bassi, M.T., Bergen, A.A., Bitoun, P., Charles, S.J., Clementi, M., Gosselin, R., Hurst, J., Lewis, R.A., Lorenz, B., Meitinger, T., Messiaen, L., Ramesar, R.S., Ballabio, A., Schiaffino, M.V. Hum. Genet. (2001) [Pubmed]
  4. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. Oetting, W.S. Hum. Mutat. (2002) [Pubmed]
  5. Mutational analysis of the OA1 gene in ocular albinism. Camand, O., Boutboul, S., Arbogast, L., Roche, O., Sternberg, C., Sutherland, J., Levin, A., Héon, E., Menasche, M., Dufier, J., Abitbol, M. Ophthalmic Genet. (2003) [Pubmed]
  6. Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. Muroya, K., Ogata, T., Matsuo, N., Nagai, T., Franco, B., Ballabio, A., Rappold, G., Sakura, N., Fukushima, Y. Am. J. Med. Genet. (1996) [Pubmed]
  7. Ocular albinism: evidence for a defect in an intracellular signal transduction system. Schiaffino, M.V., d'Addio, M., Alloni, A., Baschirotto, C., Valetti, C., Cortese, K., Puri, C., Bassi, M.T., Colla, C., De Luca, M., Tacchetti, C., Ballabio, A. Nat. Genet. (1999) [Pubmed]
  8. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Bassi, M.T., Ramesar, R.S., Caciotti, B., Winship, I.M., De Grandi, A., Riboni, M., Townes, P.L., Beighton, P., Ballabio, A., Borsani, G. Am. J. Hum. Genet. (1999) [Pubmed]
  9. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Schnur, R.E., Trask, B.J., van den Engh, G., Punnett, H.H., Kistenmacher, M., Tomeo, M.A., Naids, R.E., Nussbaum, R.L. Am. J. Hum. Genet. (1989) [Pubmed]
  10. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Schiaffino, M.V., Bassi, M.T., Galli, L., Renieri, A., Bruttini, M., De Nigris, F., Bergen, A.A., Charles, S.J., Yates, J.R., Meindl, A. Hum. Mol. Genet. (1995) [Pubmed]
  11. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. d'Addio, M., Pizzigoni, A., Bassi, M.T., Baschirotto, C., Valetti, C., Incerti, B., Clementi, M., De Luca, M., Ballabio, A., Schiaffino, M.V. Hum. Mol. Genet. (2000) [Pubmed]
  12. Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1. Touloukian, C.E., Leitner, W.W., Schnur, R.E., Robbins, P.F., Li, Y., Southwood, S., Sette, A., Rosenberg, S.A., Restifo, N.P. J. Immunol. (2003) [Pubmed]
  13. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Schiaffino, M.V., Baschirotto, C., Pellegrini, G., Montalti, S., Tacchetti, C., De Luca, M., Ballabio, A. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  14. Fluorescein angiography of the anterior ocular segment using the Topcon OA-1 ocular camera. Yamaaki, H., van der Werf, P.J., de Kerk, A.L. The Journal of audiovisual media in medicine. (1981) [Pubmed]
  15. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Wapenaar, M.C., Bassi, M.T., Schaefer, L., Grillo, A., Ferrero, G.B., Chinault, A.C., Ballabio, A., Zoghbi, H.Y. Hum. Mol. Genet. (1993) [Pubmed]
  16. Detection of KAL-1 gene deletion with fluorescence in situ hybridization. Hou, J.W., Tsai, W.Y., Wang, T.R. J. Formos. Med. Assoc. (1999) [Pubmed]
  17. Deletion in the OA1 gene in a family with congenital X linked nystagmus. Preising, M., Op de Laak, J.P., Lorenz, B. The British journal of ophthalmology. (2001) [Pubmed]
  18. Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. Sallmann, G.B., Bray, P.J., Rogers, S., Quince, A., Cotton, R.G., Carden, S.M. Ophthalmic Genet. (2006) [Pubmed]
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