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]
| Ocular albinism type 1 protein | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | Ocular_alb | ||||||||
| Pfam | PF02101 | ||||||||
| Pfam clan | CL0192 | ||||||||
| InterPro | IPR001414 | ||||||||
| |||||||||
The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.[10][11]
Interactions
editReferences
edit- ^ a b c 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 I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, et al. (November 2008). "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. PMC 2572695. PMID 18697795.
- ^ Innamorati G, Piccirillo R, Bagnato P, Palmisano I, Schiaffino MV (April 2006). "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. PMC 1459912. PMID 16524428.
- ^ Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, et al. (May 1995). "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome". Nature Genetics. 10 (1): 13–19. doi:10.1038/ng0595-13. PMID 7647783. S2CID 205342065.
- ^ a b Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, et al. (September 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108–112. doi:10.1038/12715. PMID 10471510. S2CID 6604295.
- ^ Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, et al. (September 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108–112. doi:10.1038/12715. PMID 10471510. S2CID 6604295.
- ^ Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, et al. (August 2004). "The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis". Molecular and Cellular Biology. 24 (15): 6550–6559. doi:10.1128/MCB.24.15.6550-6559.2004. PMC 444869. PMID 15254223.
- ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, et al. (December 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–676. 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 Biology. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673.
Further reading
edit- Oetting WS, King RA (1999). "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism". Human Mutation. 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 (February 2002). "New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene". Human Mutation. 19 (2): 85–92. doi:10.1002/humu.10034. PMID 11793467. S2CID 42778083.
- Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, et al. (November 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". American Journal of Human Genetics. 45 (5): 706–720. PMC 1683435. PMID 2573275.
- Meindl A, Hosenfeld D, Brückl W, Schuffenhauer S, Jenderny J, Bacskulin A, et al. (October 1993). "Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism". Journal of Medical Genetics. 30 (10): 838–842. doi:10.1136/jmg.30.10.838. PMC 1016566. PMID 8230160.
- Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, et al. (December 1995). "Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism". Human Molecular Genetics. 4 (12): 2319–2325. doi:10.1093/hmg/4.12.2319. PMID 8634705.
- Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, et al. (April 1998). "OA1 mutations and deletions in X-linked ocular albinism". American Journal of Human Genetics. 62 (4): 800–809. doi:10.1086/301776. PMC 1377018. PMID 9529334.
- Rosenberg T, Schwartz M (1999). "X-linked ocular albinism: prevalence and mutations--a national study". European Journal of Human Genetics. 6 (6): 570–577. doi:10.1038/sj.ejhg.5200226. PMID 9887374.
- d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, et al. (December 2000). "Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1". Human Molecular Genetics. 9 (20): 3011–3018. doi:10.1093/hmg/9.20.3011. PMID 11115845.
- Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, et al. (January 2001). "Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America". Human Genetics. 108 (1): 51–54. doi:10.1007/s004390000440. PMID 11214907. S2CID 40983215.
- Touloukian CE, Leitner WW, Schnur RE, Robbins PF, Li Y, Southwood S, et al. (February 2003). "Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1". Journal of Immunology. 170 (3): 1579–1585. doi:10.4049/jimmunol.170.3.1579. PMC 2241741. PMID 12538723.
- Basrur V, Yang F, Kushimoto T, Higashimoto Y, Yasumoto K, Valencia J, et al. (2003). "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins". Journal of Proteome Research. 2 (1): 69–79. doi:10.1021/pr025562r. PMID 12643545.
- Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, et al. (September 2003). "Mutational analysis of the OA1 gene in ocular albinism". Ophthalmic Genetics. 24 (3): 167–173. doi:10.1076/opge.24.3.167.15605. PMID 12868035. S2CID 23456064.
- Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, et al. (April 2006). "Eight previously unidentified mutations found in the OA1 ocular albinism gene". BMC Medical Genetics. 7: 41. doi:10.1186/1471-2350-7-41. PMC 1468396. PMID 16646960.
- Sallmann GB, Bray PJ, Rogers S, Quince A, Cotton RG, Carden SM (June 2006). "Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC". Ophthalmic Genetics. 27 (2): 43–49. doi:10.1080/13816810600677834. PMID 16754205. S2CID 41887499.
- Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, et al. (November 2006). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". Journal of Proteome Research. 5 (11): 3135–3144. doi:10.1021/pr060363j. PMID 17081065.
External links
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