Biology:GPR143
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
| Ocular albinism type 1 protein | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | Ocular_alb | ||||||||
| Pfam | PF02101 | ||||||||
| Pfam clan | CL0192 | ||||||||
| InterPro | IPR001414 | ||||||||
| |||||||||
G-protein coupled receptor 143, also known as Ocular albinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane domains and similarities with G protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes.[1][2][3] This protein encoded by the GPR143 gene,[4][5] whose variants can lead to Ocular albinism type 1.[6]
The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.[7][8]
L-DOPA is an endogenous ligand for OA1.[9]
Interactions
GPR143 has been shown to interact with GNAI1.[5]
References
- ↑ "Entrez Gene: GPR143 G protein-coupled receptor 143". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4935.
- ↑ Palmisano, Ilaria; Bagnato, Paola; Palmigiano, Angela; Innamorati, Giulio; Rotondo, Giuseppe; Altimare, Domenico; Venturi, Consuelo; Sviderskaya, Elena V et al. (2008-11-01). "The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells". Human Molecular Genetics 17 (22): 3487–3501. doi:10.1093/hmg/ddn241. ISSN 1460-2083. PMID 18697795.
- ↑ Innamorati, Giulio; Piccirillo, Rosanna; Bagnato, Paola; Palmisano, Ilaria; Schiaffino, Maria Vittoria (2006-04-01). "The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor". Pigment Cell Research 19 (2): 125–135. doi:10.1111/j.1600-0749.2006.00292.x. ISSN 1600-0749. PMID 16524428.
- ↑ "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome". Nat Genet 10 (1): 13–9. Sep 1995. doi:10.1038/ng0595-13. PMID 7647783.
- ↑ 5.0 5.1 "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nat Genet 23 (1): 108–12. Sep 1999. doi:10.1038/12715. PMID 10471510.
- ↑ Schiaffino, M V; d'Addio, M; Alloni, A; Baschirotto, C; Valetti, C; Cortese, K; Puri, C; Bassi, M T et al. (1999-09-01). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics 23 (1): 108–112. doi:10.1038/12715. ISSN 1546-1718. PMID 10471510. https://doi.org/10.1038/12715.
- ↑ "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. 2004. doi:10.1128/MCB.24.15.6550-6559.2004. PMID 15254223.
- ↑ "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. 2008. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ↑ Barsh, Gregory S, ed (September 2008). "L-DOPA is an endogenous ligand for OA1". PLOS Biol. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMID 18828673.
Further reading
- "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.". Hum. Mutat. 13 (2): 99–115. 1999. 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.
- "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. 1989. PMID 2573275.
- "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. 1993. doi:10.1136/jmg.30.10.838. PMID 8230160.
- "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. 1996. doi:10.1093/hmg/4.12.2319. PMID 8634705.
- "OA1 mutations and deletions in X-linked ocular albinism.". Am. J. Hum. Genet. 62 (4): 800–9. 1998. doi:10.1086/301776. PMID 9529334.
- "X-linked ocular albinism: prevalence and mutations--a national study.". Eur. J. Hum. Genet. 6 (6): 570–7. 1999. doi:10.1038/sj.ejhg.5200226. PMID 9887374.
- "Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.". Hum. Mol. Genet. 9 (20): 3011–8. 2001. doi:10.1093/hmg/9.20.3011. PMID 11115845.
- "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. 2001. doi:10.1007/s004390000440. PMID 11214907.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "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. 2003. doi:10.4049/jimmunol.170.3.1579. PMID 12538723.
- "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.". J. Proteome Res. 2 (1): 69–79. 2003. doi:10.1021/pr025562r. PMID 12643545.
- "Mutational analysis of the OA1 gene in ocular albinism.". Ophthalmic Genet. 24 (3): 167–73. 2003. doi:10.1076/opge.24.3.167.15605. PMID 12868035.
- "Eight previously unidentified mutations found in the OA1 ocular albinism gene.". BMC Med. Genet. 7: 41. 2006. doi:10.1186/1471-2350-7-41. PMID 16646960.
- "Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC.". Ophthalmic Genet. 27 (2): 43–9. 2006. doi:10.1080/13816810600677834. PMID 16754205.
- "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.". J. Proteome Res. 5 (11): 3135–44. 2007. doi:10.1021/pr060363j. PMID 17081065.
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