GPR98
| G protein spregnuti receptor 98 | |||||||||||
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| Identifikatori | |||||||||||
| Simboli | GPR98; FEB4; MASS1; USH2B; USH2C; VLGR1; VLGR1b | ||||||||||
| Vanjski ID | OMIM: 602851 MGI: 1274784 HomoloGene: 19815 IUPHAR: GPR98 GeneCards: GPR98 Gene | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| Vrsta | Čovek | Miš | |||||||||
| Entrez | 84059 | 110789 | |||||||||
| Ensembl | ENSG00000164199 | ENSMUSG00000069170 | |||||||||
| UniProt | Q8WXG9 | Q8VHN7 | |||||||||
| RefSeq (mRNA) | NM_032119.3 | NM_054053.4 | |||||||||
| RefSeq (protein) | NP_115495.3 | NP_473394.3 | |||||||||
| Lokacija (UCSC) |
Chr 5: 89.83 - 90.46 Mb |
Chr 13: 81.23 - 81.77 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
G protein spregnuti receptor 98 je protein koji je kod ljudi kodiran GPR98 genom.[1]
Ovaj protein je član familije G protein spregnutih receptora. On vezuje kalcijum. Izražen je u centralnom nervnom sistemu. On je takođe poznat kao veoma veliki G-protein spregnuti receptor 1, jer je 6300 aminokiselina dug. On sadrži C-terminus 7-transmembranaskog domena uobičajene dužine, dok N-terminus ima 5900 ostataka uključujući 35 kalks-beta domena vezivanja kalcijuma, i 6 EAR domena. Mutacije ovog gena su asocirane sa Ušerovim sindromom 2. Nekoliko alternativno splajsovanih transkripta je opisano.[1]
Reference
[уреди | уреди извор]Literatura
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- Staub E; Pérez-Tur J; Siebert R; et al. (2002). . „The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders.”. Trends Biochem. Sci.. 27 (9): 441—4. PMID 12217514. doi:10.1016/S0968-0004(02)02163-1.
- Ishikawa K; Nagase T; Suyama M; et al. (1998). . „Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.”. DNA Res.. 5 (3): 169—76. PMID 9734811. doi:10.1093/dnares/5.3.169.
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- Pieke-Dahl S; Möller CG; Kelley PM; et al. (2000). . „Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.”. J. Med. Genet.. 37 (4): 256—62. PMC 1734554
. PMID 10745043. doi:10.1136/jmg.37.4.256. - Nikkila H; McMillan DR; Nunez BS; et al. (2001). . „Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain.”. Mol. Endocrinol.. 14 (9): 1351—64. PMID 10976914. doi:10.1210/me.14.9.1351.
- Wiemann S; Weil B; Wellenreuther R; et al. (2001). . „Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.”. Genome Res.. 11 (3): 422—35. PMC 311072 . PMID 11230166. doi:10.1101/gr.GR1547R.
- Skradski SL; Clark AM; Jiang H; et al. (2001). . „A novel gene causing a mendelian audiogenic mouse epilepsy.”. Neuron. 31 (4): 537—44. PMID 11545713. doi:10.1016/S0896-6273(01)00397-X.
- McMillan DR, Kayes-Wandover KM, Richardson JA, White PC (2002). . „Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system.”. J. Biol. Chem.. 277 (1): 785—92. PMID 11606593. doi:10.1074/jbc.M108929200.
- Nagase T, Kikuno R, Ohara O (2002). . „Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.”. DNA Res.. 8 (6): 319—27. PMID 11853319. doi:10.1093/dnares/8.6.319.
- Nakayama J; Fu YH; Clark AM; et al. (2002). . „A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.”. Ann. Neurol.. 52 (5): 654—7. PMID 12402266. doi:10.1002/ana.10347.
- 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 . PMID 12477932. doi:10.1073/pnas.242603899.
- Ota T; Suzuki Y; Nishikawa T; et al. (2004). . „Complete sequencing and characterization of 21,243 full-length human cDNAs.”. Nat. Genet.. 36 (1): 40—5. PMID 14702039. doi:10.1038/ng1285.
- Weston MD; Luijendijk MW; Humphrey KD; et al. (2004). . „Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.”. Am. J. Hum. Genet.. 74 (2): 357—66. PMC 1181933 . PMID 14740321. doi:10.1086/381685.
- Bjarnadóttir TK; Fredriksson R; Höglund PJ; et al. (2005). . „The human and mouse repertoire of the adhesion family of G-protein-coupled receptors.”. Genomics. 84 (1): 23—33. PMID 15203201. doi:10.1016/j.ygeno.2003.12.004.
- Fu GK; Wang JT; Yang J; et al. (2005). . „Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes.”. Genomics. 84 (1): 205—10. PMID 15203218. doi:10.1016/j.ygeno.2004.01.011.
- Schwartz SB; Aleman TS; Cideciyan AV; et al. (2005). . „Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.”. Invest. Ophthalmol. Vis. Sci.. 46 (2): 734—43. PMID 15671307. doi:10.1167/iovs.04-1136.
- Kimura K; Wakamatsu A; Suzuki Y; et al. (2006). . „Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.”. Genome Res.. 16 (1): 55—65. PMC 1356129 . PMID 16344560. doi:10.1101/gr.4039406.
