Retinal G protein coupled receptor
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Retinal G protein coupled receptor
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Identifiers | ||||||||||||||
Symbol(s) | RGR; | |||||||||||||
External IDs | OMIM: 600342 MGI: 1929473 HomoloGene: 37709 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 5995 | 57811 | ||||||||||||
Ensembl | ENSG00000148604 | ENSMUSG00000021804 | ||||||||||||
Uniprot | P47804 | Q3UEX9 | ||||||||||||
Refseq | NM_001012720 (mRNA) NP_001012738 (protein) |
NM_021340 (mRNA) NP_067315 (protein) |
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Location | Chr 10: 85.99 - 86.01 Mb | Chr 14: 35.95 - 35.96 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Retinal G protein coupled receptor, also known as RGR, is a human gene.[1]
Defects in this gene are a cause of retinitis pigmentosa. The gene is a member of the rhodopsin-like receptor subfamily of GPCR. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein presumably acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal, similar to retinochrome in invertebrates. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms.[1]
[edit] References
[edit] Further reading
- 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. 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. PMID 7947717.
- Chen XN, Korenberg JR, Jiang M, et al. (1996). "Localization of the human RGR opsin gene to chromosome 10q23.". Hum. Genet. 97 (6): 720–2. PMID 8641686.
- 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: . 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: . 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: . 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: . 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. 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. 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. 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: . 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: . 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: . 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.