GPR98
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G protein spregnuti receptor 98 je protein koji je kod ljudi kodiran GPR98 genom.[1]
| 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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| Ortolozi | |||||||||||
| 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] | |||||||||
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 uredi
Literatura uredi
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- 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. DOI:10.1093/dnares/5.3.169. PMID 9734811.
- Nakayama J, Hamano K, Iwasaki N, et al. (2000). „Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.”. Hum. Mol. Genet. 9 (1): 87–91. DOI:10.1093/hmg/9.1.87. PMID 10587582.
- 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. DOI:10.1136/jmg.37.4.256. PMC 1734554. PMID 10745043.
- 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. DOI:10.1210/me.14.9.1351. PMID 10976914.
- 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. DOI:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Skradski SL, Clark AM, Jiang H, et al. (2001). „A novel gene causing a mendelian audiogenic mouse epilepsy.”. Neuron 31 (4): 537–44. DOI:10.1016/S0896-6273(01)00397-X. PMID 11545713.
- 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. DOI:10.1074/jbc.M108929200. PMID 11606593.
- 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. DOI:10.1093/dnares/8.6.319. PMID 11853319.
- 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. DOI:10.1002/ana.10347. PMID 12402266.
- 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.
- 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. DOI:10.1038/ng1285. PMID 14702039.
- 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. DOI:10.1086/381685. PMC 1181933. PMID 14740321.
- 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. DOI:10.1016/j.ygeno.2003.12.004. PMID 15203201.
- 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. DOI:10.1016/j.ygeno.2004.01.011. PMID 15203218.
- 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. DOI:10.1167/iovs.04-1136. PMID 15671307.
- 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. DOI:10.1101/gr.4039406. PMC 1356129. PMID 16344560.