GPR143

Okularni albinizam tip 1 protein
Identifikatori
Simbol	Ocular_alb
Pfam	PF02101
Pfam klan	CL0192
InterPro	IPR001414
Dostupne PDB strukture:
Pfam	structures
PDB	RCSB PDB; PDBe
PDBsum	strukturni pregled

G protein-coupled receptor 143
Identifikatori
Simboli	GPR143; NYS6; OA1
Vanjski ID	OMIM: 300808 MGI: 107193 HomoloGene: 230 IUPHAR: GPR143 GeneCards: GPR143 Gene
Ontologija gena
Molekularna funkcija	• aktivnost G protein spregnutog receptora; • proteinsko vezivanje; • dopaminsko vezivanje; • aktivnost L-DOPA receptora;
Celularna komponenta	• integralno sa ćelijskom membranom; • integralno sa membranom; • membranska frakcija; • citoplazma; • lizozomna membrana;
Biološki proces	• signalni put G protein spregnutog receptora; • biosintetički process očnog pigmenta; • prenos signala; • vizuelna percepcija;
Pregled RNK izražavanja
	podaci
Ortolozi

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G protein spregnuti receptor 143 je protein koji je kod ljudi kodiran GPR143 genom.^[1]^[2]^[3]

Okularni albinizam tip 1 protein je konzervirani integralni membranski protein sa sedam transmembranskih domena. On je izražen u oku i epidermalnim melanocitima.^[3]

GPR143 gen je regulisan mikroftalmija-asociranim transkripcionim faktorom.^[4]^[5]

L-DOPA je endogeni ligand za OA1.^[6]

Interakcije

GPR143 formira initekcije Protein-protein interakcija sa GNAI1.^[7]

Reference

↑ 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.
↑ ^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. 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.
↑ Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh, Gregory S.. ur. „L-DOPA is an endogenous ligand for OA1”. PLoS Biol. 6 (9): e236. DOI:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673.
↑ 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 (September 1999). „Ocular albinism: evidence for a defect in an intracellular signal transduction system”. Nat. Genet. (UNITED STATES) 23 (1): 108–12. DOI:10.1038/12715. ISSN 1061-4036. PMID 10471510.

Literatura

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.
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.
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.
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.
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. 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.

Spoljašnje veze

GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked

[pmid7647783-1] 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.

[pmid10471510-2] 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.

[entrez-3] 3,0 ^3,1 „Entrez Gene: GPR143 G protein-coupled receptor 143”.

[pmid15254223-4] 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.

[pmidunknown-5] 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.

[pmid18828673-6] Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh, Gregory S.. ur. „L-DOPA is an endogenous ligand for OA1”. PLoS Biol. 6 (9): e236. DOI:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673.

[autogenerated1-7] 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 (September 1999). „Ocular albinism: evidence for a defect in an intracellular signal transduction system”. Nat. Genet. (UNITED STATES) 23 (1): 108–12. DOI:10.1038/12715. ISSN 1061-4036. PMID 10471510.

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