Retinalni G protein spregnuti receptor
| edit |
Retinalni G protein spregnuti receptor je protein koji je kod čoveka kodiran RGR genom.[1][2]
| Retinalni G protein spregnuti receptor | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | RGR; | ||||||||||
| Vanjski ID | OMIM: 600342 MGI: 1929473 HomoloGene: 37709 GeneCards: RGR Gene | ||||||||||
| |||||||||||
| Pregled RNK izražavanja | |||||||||||
 | |||||||||||
| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 5995 | 57811 | |||||||||
| Ensembl | ENSG00000148604 | ENSMUSG00000021804 | |||||||||
| UniProt | P47804 | Q3UEX9 | |||||||||
| RefSeq (mRNA) | NM_001012720 | NM_021340 | |||||||||
| RefSeq (protein) | NP_001012738 | NP_067315 | |||||||||
| Lokacija (UCSC) | Chr 10: 85.99 - 86.01 Mb | Chr 14: 35.95 - 35.96 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
Defekti ovog gena su uzrok retinitis pigmentose. Oni mogu da se ispolje kao autosomalna recesivna ili dominantna retinitis pigmentosa (arRP i adRP, respektivno). Ovaj gen je član familije rodopsinu-sličnih receptora GPCR. Poput drugih opsina koji vezuju retinaldehid, on sadrži konzervirani lizin u svom sedmom transmembranskom domenu. Za ovaj protein se smatra da dejstvuje kao fotoizomeraza koja katalizuje konverziju sve-trans-retinala u 11-cis-retinal, slično retinohromu kod beskičmenjaka. Reverzna izomerizacija rodopsina se odvija u retinalnim fotoreceptorskim ćelijama. Ovaj protein je ekskluzivno izražen u tkivima koja su susedna retinalnim fotoreceptorskim ćelijama i retinalnom pigmentnom epitelu. Alternativno splajsovanje rezultuje u višestrukim transkriptnim varijantama koje kodiraju različite isoforme.[2]
Interakcije uredi
Za retinalni G protein spregnuti receptor je bilo pokazano da interaguje sa KIAA1279.[3]
Refernce uredi
- ↑ Chen XN, Korenberg JR, Jiang M, Shen D, Fong HK (Jul 1996). „Localization of the human RGR opsin gene to chromosome 10q23”. Hum Genet 97 (6): 720–2. DOI:10.1007/BF02346179. PMID 8641686.
- ↑ 2,0 2,1 „Entrez Gene: RGR retinal G protein coupled receptor”.
- ↑ Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (October 2005). „Towards a proteome-scale map of the human protein-protein interaction network”. Nature (England) 437 (7062): 1173–8. DOI:10.1038/nature04209. PMID 16189514.
Literatura uredi
- Jiang M, Shen D, Tao L, et al. (1995). „Alternative splicing in human retinal mRNA transcripts of an opsin-related protein.”. Exp. Eye Res. 60 (4): 401–6. DOI:10.1016/S0014-4835(05)80096-X. PMID 7789419.
- Shen D, Jiang M, Hao W, et al. (1994). „A human opsin-related gene that encodes a retinaldehyde-binding protein.”. Biochemistry 33 (44): 13117–25. DOI:10.1021/bi00248a022. PMID 7947717.
- Morimura H, Saindelle-Ribeaudeau F, Berson EL, Dryja TP (1999). „Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.”. Nat. Genet. 23 (4): 393–4. DOI:10.1038/70496. PMID 10581022.
- Chen P, Lee TD, Fong HK (2001). „Interaction of 11-cis-retinol dehydrogenase with the chromophore of retinal g protein-coupled receptor opsin.”. J. Biol. Chem. 276 (24): 21098–104. DOI:10.1074/jbc.M010441200. PMID 11274198.
- Yang M, Fong HK (2002). „Synthesis of the all-trans-retinal chromophore of retinal G protein-coupled receptor opsin in cultured pigment epithelial cells.”. J. Biol. Chem. 277 (5): 3318–24. DOI:10.1074/jbc.M108946200. PMID 11723126.
- 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.
- Bellingham J, Wells DJ, Foster RG (2003). „In silico characterisation and chromosomal localisation of human RRH (peropsin)--implications for opsin evolution.”. BMC Genomics 4 (1): 3. DOI:10.1186/1471-2164-4-3. PMC 149353. PMID 12542842.
- Tarttelin EE, Bellingham J, Bibb LC, et al. (2003). „Expression of opsin genes early in ocular development of humans and mice.”. Exp. Eye Res. 76 (3): 393–6. DOI:10.1016/S0014-4835(02)00300-7. PMID 12573668.
- Bernal S, Calaf M, Garcia-Hoyos M, et al. (2003). „Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.”. J. Med. Genet. 40 (7): e89. DOI:10.1136/jmg.40.7.e89. PMC 1735523. PMID 12843338.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). „The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”. Genome Res. 14 (10B): 2121–7. DOI:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Rual JF, Venkatesan K, Hao T, et al. (2005). „Towards a proteome-scale map of the human protein-protein interaction network.”. Nature 437 (7062): 1173–8. DOI:10.1038/nature04209. PMID 16189514.
- Zhu L, Imanishi Y, Filipek S, et al. (2006). „Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene.”. J. Biol. Chem. 281 (31): 22289–98. DOI:10.1074/jbc.M602664200. PMC 1618956. PMID 16737970.
- Lin MY, Kochounian H, Moore RE, et al. (2007). „Deposition of exon-skipping splice isoform of human retinal G protein-coupled receptor from retinal pigment epithelium into Bruch's membrane.”. Mol. Vis. 13: 1203–14. PMID 17679941.