Retinalni G protein spregnuti receptor
| Retinalni G protein spregnuti receptor | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | RGR; | ||||||||||
| Vanjski ID | OMIM: 600342 MGI: 1929473 HomoloGene: 37709 GeneCards: RGR Gene | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| 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] | |||||||||
Retinalni G protein spregnuti receptor je protein koji je kod čoveka kodiran RGR genom.[1][2]
{{PBB_Summary | section_title = | summary_text = 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
[уреди | уреди извор]Za retinalni G protein spregnuti receptor je bilo pokazano da interaguje sa KIAA1279.[3]
Reference
[уреди | уреди извор]- ^ Chen XN, Korenberg JR, Jiang M, Shen D, Fong HK (1996). „Localization of the human RGR opsin gene to chromosome 10q23”. Hum Genet. 97 (6): 720—2. PMID 8641686. doi:10.1007/BF02346179.
- ^ а б „Entrez Gene: RGR retinal G protein coupled receptor”.
- ^ Rual, Jean-François; Kavitha, Venkatesan; et al. (2005). „Towards a proteome-scale map of the human protein-protein interaction network”. Nature. England. 437 (7062): 1173—8. PMID 16189514. doi:10.1038/nature04209.
Literatura
[уреди | уреди извор]- M, Jiang; D, Shen; L, Tao; et al. (1995). „Alternative splicing in human retinal mRNA transcripts of an opsin-related protein.”. Exp. Eye Res. 60 (4): 401—6. PMID 7789419. doi:10.1016/S0014-4835(05)80096-X.
- D, Shen; M, Jiang; W, Hao; et al. (1994). „A human opsin-related gene that encodes a retinaldehyde-binding protein.”. Biochemistry. 33 (44): 13117—25. PMID 7947717. doi:10.1021/bi00248a022.
- 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. PMID 10581022. doi:10.1038/70496.
- 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. PMID 11274198. doi:10.1074/jbc.M010441200.
- 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. PMID 11723126. doi:10.1074/jbc.M108946200.
- RL, Strausberg; EA, Feingold; LH, Grouse; 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. - 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. PMC 149353 . PMID 12542842. doi:10.1186/1471-2164-4-3.
- EE, Tarttelin; J, Bellingham; LC, Bibb; et al. (2003). „Expression of opsin genes early in ocular development of humans and mice.”. Exp. Eye Res. 76 (3): 393—6. PMID 12573668. doi:10.1016/S0014-4835(02)00300-7.
- S, Bernal; M, Calaf; 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. PMC 1735523 . PMID 12843338. doi:10.1136/jmg.40.7.e89.
- DS, Gerhard; L, Wagner; EA, Feingold; 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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- JF, Rual; K, Venkatesan; T, Hao; et al. (2005). „Towards a proteome-scale map of the human protein-protein interaction network.”. Nature. 437 (7062): 1173—8. PMID 16189514. doi:10.1038/nature04209.
- L, Zhu; Y, Imanishi; S, Filipek; et al. (2006). „Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene.”. J. Biol. Chem. 281 (31): 22289—98. PMC 1618956 . PMID 16737970. doi:10.1074/jbc.M602664200.
- MY, Lin; H, Kochounian; RE, Moore; 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.
