| 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.[4][5][6] This protein encoded by the GPR143 gene,[7][8] whose variants can lead to Ocular albinism type 1.[9]
The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.[10][11]
Interactions
References
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025333 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: GPR143 G protein-coupled receptor 143".
- ↑ Palmisano, Ilaria; Bagnato, Paola; Palmigiano, Angela; Innamorati, Giulio; Rotondo, Giuseppe; Altimare, Domenico; Venturi, Consuelo; Sviderskaya, Elena V; Piccirillo, Rosanna; Coppola, Massimiliano; Marigo, Valeria; Incerti, Barbara; Ballabio, Andrea; Surace, Enrico M; Tacchetti, Carlo (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. PMC 2572695. 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. PMC 1459912. PMID 16524428.
- ↑ Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A (Sep 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. S2CID 205342065.
- 1 2 Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A (Sep 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. S2CID 6604295.
- ↑ 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 (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. S2CID 6604295.
- ↑ 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. 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. S2CID 24698373.
- ↑ Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh GS (ed.). "L-DOPA is an endogenous ligand for OA1". PLOS Biol. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673.
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. S2CID 27315644.
- 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. S2CID 42778083.
- 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. 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. 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. 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. S2CID 40983215.
- 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. doi:10.4049/jimmunol.170.3.1579. PMC 2241741. 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. S2CID 23456064.
- 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. 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. S2CID 41887499.
- 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.
External links
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