Summary: Ocular albinism type 1 protein
This is the Wikipedia entry entitled "GPR143". More...
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GPR143 Edit Wikipedia article
|G protein-coupled receptor 143|
|External IDs||IUPHAR: GeneCards:|
|RNA expression pattern|
|Ocular albinism type 1 protein|
- 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.
- 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.
- "Entrez Gene: GPR143 G protein-coupled receptor 143". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4935.
- 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC444869/.
- 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.
- Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh, Gregory S.. ed. "L-DOPA is an endogenous ligand for OA1". PLoS Biol. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2553842/.
 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. PMID 2573275. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1683435/.
- 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1016566/.
- 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. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1377018/.
- 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. PMID 12477932. //www.ncbi.nlm.nih.gov/pmc/articles/PMC139241/.
- 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. PMID 12538723. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2241741/.
- 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.220.127.116.1105. 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. PMID 16646960. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1468396/.
- 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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Ocular albinism type 1 protein Provide feedback
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External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR001414Ocular albinism type 1 (OA1) is an X-linked disorder characterised by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. A novel transcript from the OA1 critical region is expressed in high levels in RNA samples from retina and from melanoma and encodes a potential integral membrane protein [PUBMED:7647783]. This protein is of unknown function but is known to bind heterotrimeric G proteins.
The mapping between Pfam and Gene Ontology is provided by InterPro. If you use this data please cite InterPro.
|Cellular component||membrane (GO:0016020)|
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|Author:||Mian N, Bateman A|
|Number in seed:||2|
|Number in full:||77|
|Average length of the domain:||326.40 aa|
|Average identity of full alignment:||45 %|
|Average coverage of the sequence by the domain:||95.20 %|
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build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||10|
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