GPR143

G protein-coupled receptor 143
Identifiers
Symbols	GPR143 ; OA1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 230
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

G protein-coupled receptor 143, also known as GPR143, is a human gene.

Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes.

Further reading

• Oetting WS, King RA (1999). "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism". Hum. Mutat. 13 (2): 99–115. doi:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C. PMID 10094567.
• Oetting WS (2002). "New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene". Hum. Mutat. 19 (2): 85–92. doi:10.1002/humu.10034. PMID 11793467.
• Schnur RE, Trask BJ, van den Engh G; et al. (1989). "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". Am. J. Hum. Genet. 45 (5): 706–20. PMID 2573275.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bassi MT, Schiaffino MV, Renieri A; et al. (1995). "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome". Nat. Genet. 10 (1): 13–9. doi:10.1038/ng0595-13. PMID 7647783.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Meindl A, Hosenfeld D, Brückl W; et al. (1993). "Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism". J. Med. Genet. 30 (10): 838–42. PMID 8230160.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schiaffino MV, Bassi MT, Galli L; et al. (1996). "Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism". Hum. Mol. Genet. 4 (12): 2319–25. PMID 8634705.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schnur RE, Gao M, Wick PA; et al. (1998). "OA1 mutations and deletions in X-linked ocular albinism". Am. J. Hum. Genet. 62 (4): 800–9. PMID 9529334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rosenberg T, Schwartz M (1999). "X-linked ocular albinism: prevalence and mutations--a national study". Eur. J. Hum. Genet. 6 (6): 570–7. doi:10.1038/sj.ejhg.5200226. PMID 9887374.
• Schiaffino MV, d'Addio M, Alloni A; et al. (1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nat. Genet. 23 (1): 108–12. doi:10.1038/12715. PMID 10471510.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• d'Addio M, Pizzigoni A, Bassi MT; et al. (2001). "Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1". Hum. Mol. Genet. 9 (20): 3011–8. PMID 11115845.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bassi MT, Bergen AA, Bitoun P; et al. (2001). "Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America". Hum. Genet. 108 (1): 51–4. PMID 11214907.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Touloukian CE, Leitner WW, Schnur RE; et al. (2003). "Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1". J. Immunol. 170 (3): 1579–85. PMID 12538723.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Basrur V, Yang F, Kushimoto T; et al. (2003). "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins". J. Proteome Res. 2 (1): 69–79. PMID 12643545.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Camand O, Boutboul S, Arbogast L; et al. (2003). "Mutational analysis of the OA1 gene in ocular albinism". Ophthalmic Genet. 24 (3): 167–73. PMID 12868035.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mayeur H, Roche O, Vêtu C; et al. (2006). "Eight previously unidentified mutations found in the OA1 ocular albinism gene". BMC Med. Genet. 7: 41. doi:10.1186/1471-2350-7-41. PMID 16646960.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sallmann GB, Bray PJ, Rogers S; et al. (2006). "Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC". Ophthalmic Genet. 27 (2): 43–9. doi:10.1080/13816810600677834. PMID 16754205.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chi A, Valencia JC, Hu ZZ; et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res. 5 (11): 3135–44. doi:10.1021/pr060363j. PMID 17081065.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)