GPR143
From Self-sufficiency
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| G protein-coupled receptor 143 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | GPR143; OA1 | ||||||||||||
| External IDs | OMIM: 300500 MGI: 107193 HomoloGene: 230 IUPHAR: GPR143 GeneCards: GPR143 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 4935 | 18241 | |||||||||||
| Ensembl | ENSG00000101850 | ENSMUSG00000025333 | |||||||||||
| UniProt | P51810 | Q549B6 | |||||||||||
| RefSeq (mRNA) | NM_000273 | NM_010951 | |||||||||||
| RefSeq (protein) | NP_000264 | NP_035081 | |||||||||||
| Location (UCSC) | Chr X: 9.65 - 9.69 Mb | Chr X: 148.12 - 148.15 Mb | |||||||||||
| PubMed search | [1] | [2] | |||||||||||
G-protein coupled receptor 143 is a protein that in humans is encoded by the GPR143 gene.[1][2][3]
Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes.[3]
The GPR143 gene is regulated by the Microphthalmia-associated transcription factor[4][5].
Interactions
GPR143 has been shown to interact with GNAI1.[2]
References
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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. PMC 1683435 Freely accessible. PMID 2573275.
- 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. doi:10.1136/jmg.30.10.838. PMC 1016566 Freely accessible. PMID 8230160.
- 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. doi:10.1093/hmg/4.12.2319. PMID 8634705.
- 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. doi:10.1086/301776. PMC 1377018 Freely accessible. PMID 9529334.
- 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.
- 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. doi:10.1093/hmg/9.20.3011. PMID 11115845.
- 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. doi:10.1007/s004390000440. PMID 11214907.
- 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. PMC 139241 Freely accessible. PMID 12477932.
- 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. PMC 2241741 Freely accessible. PMID 12538723.
- 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. doi:10.1021/pr025562r. PMID 12643545.
- Camand O, Boutboul S, Arbogast L; et al. (2003). "Mutational analysis of the OA1 gene in ocular albinism". Ophthalmic Genet. 24 (3): 167–73. doi:10.1076/opge.24.3.167.15605. PMID 12868035.
- 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. PMC 1468396 Freely accessible. PMID 16646960.
- 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.
- 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.
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- ↑ 2.0 2.1 Lua error in package.lua at line 80: module 'Module:Citation/CS1/Suggestions' not found.
- ↑ 3.0 3.1 "Entrez Gene: GPR143 G protein-coupled receptor 143".
- ↑ Vetrini F, Auricchio A, Du J; et al. (2004). "The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis". Mol. Cell Biol. 24 (15): 6550–9. doi:10.1128/MCB.24.15.6550-6559.2004. PMC 444869 Freely accessible. PMID 15254223.
- ↑ Hoek KS, Schlegel NC, Eichhoff OM; et al. (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.
