GPR143
| G protein-coupled receptor 143 | |||||||||||
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| Identifikatori | |||||||||||
| Simboli | GPR143; NYS6; OA1 | ||||||||||
| Vanjski ID | OMIM: 300808 MGI: 107193 HomoloGene: 230 IUPHAR: GPR143 GeneCards: GPR143 Gene | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 4935 | 18241 | |||||||||
| Ensembl | ENSG00000101850 | ENSMUSG00000025333 | |||||||||
| UniProt | P51810 | P70259 | |||||||||
| RefSeq (mRNA) | NM_000273.2 | NM_010951.3 | |||||||||
| RefSeq (protein) | NP_000264.2 | NP_035081.3 | |||||||||
| Lokacija (UCSC) |
Chr X: 9.69 - 9.75 Mb |
Chr X: 149.22 - 149.24 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
| Okularni albinizam tip 1 protein | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||
| Simbol | Ocular_alb | ||||||||
| Pfam | PF02101 | ||||||||
| Pfam klan | CL0192 | ||||||||
| InterPro | IPR001414 | ||||||||
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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
[уреди | уреди извор]GPR143 formira initekcije Protein-protein interakcija sa GNAI1.[2]
Reference
[уреди | уреди извор]- ^ Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A (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. PMID 7647783. doi:10.1038/ng0595-13.
- ^ а б 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 (1999). „Ocular albinism: evidence for a defect in an intracellular signal transduction system”. Nat Genet. 23 (1): 108—12. PMID 10471510. doi:10.1038/12715.
- ^ а б „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. PMC 444869
. PMID 15254223. doi:10.1128/MCB.24.15.6550-6559.2004.
- ^ 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. PMID 19067971. doi:10.1111/j.1755-148X.2008.00505.x.
- ^ Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (2008). Barsh GS, ур. „L-DOPA is an endogenous ligand for OA1”. PLoS Biol. 6 (9): e236. PMC 2553842
Literatura
[уреди | уреди извор]- Oetting WS, King RA (1999). „Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.”. Hum. Mutat. 13 (2): 99—115. PMID 10094567. doi:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C.
- Oetting WS (2002). „New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.”. Hum. Mutat. 19 (2): 85—92. PMID 11793467. doi:10.1002/humu.10034.
- 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
- 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. PMC 1016566
- 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. PMID 8634705. doi:10.1093/hmg/4.12.2319.
- 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. PMC 1377018
- Rosenberg T, Schwartz M (1999). „X-linked ocular albinism: prevalence and mutations--a national study.”. Eur. J. Hum. Genet. 6 (6): 570—7. PMID 9887374. doi:10.1038/sj.ejhg.5200226.
- 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. PMID 11115845. doi:10.1093/hmg/9.20.3011.
- 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. PMID 11214907. doi:10.1007/s004390000440.
- 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. PMC 139241
- 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
- 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. PMID 12643545. doi:10.1021/pr025562r.
- Camand O; Boutboul S; Arbogast L; et al. (2003). „Mutational analysis of the OA1 gene in ocular albinism.”. Ophthalmic Genet. 24 (3): 167—73. PMID 12868035. doi:10.1076/opge.24.3.167.15605.
- 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. PMC 1468396
- 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. PMID 16754205. doi:10.1080/13816810600677834.
- 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. PMID 17081065. doi:10.1021/pr060363j.