RGS9BP

RGS9BP
Identifiers
Aliases	RGS9BP, regulator of G protein signaling 9 binding protein, PERRS, R9AP, RGS9, regulator of G-protein signaling 9 binding protein
External IDs	OMIM: 607814; MGI: 2384418; HomoloGene: 17113; GeneCards: RGS9BP; OMA:RGS9BP - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.11 Start 32,675,848 bp End 32,678,300 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 B2 Start 35,278,418 bp End 35,285,007 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle muscle of thigh gastrocnemius muscle apex of heart skeletal muscle tissue retinal pigment epithelium left ventricle right auricle prefrontal cortex stromal cell of endometrium Top expressed in neural layer of retina epithelium of lens retinal pigment epithelium pineal gland ciliary body outer nuclear layer iris transitional epithelium of urinary bladder esophagus conjunctival fornix More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 388531 243923 Ensembl ENSG00000186326 ENSMUSG00000056043 UniProt Q6ZS82 Q148R9 RefSeq (mRNA) NM_207391 NM_145840 RefSeq (protein) NP_997274 NP_665839 Location (UCSC) Chr 19: 32.68 – 32.68 Mb Chr 7: 35.28 – 35.29 Mb PubMed search
Wikidata
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Regulator of G protein signaling 9 binding protein is a protein that in humans is encoded by the RGS9BP gene.

Function

The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia.

Further reading

• Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP (2004). "Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation". Nature. 427 (6969): 75–8. Bibcode:2004Natur.427...75N. doi:10.1038/nature02170. PMID 14702087. S2CID 953980.
• Cheng JY, Luu CD, Yong VH, Mathur R, Aung T, Vithana EN (2007). "Bradyopsia in an Asian man". Arch. Ophthalmol. 125 (8): 1138–40. doi:10.1001/archopht.125.8.1138. PMID 17698770.
• Stockman A, Smithson HE, Webster AR, Holder GE, Rana NA, Ripamonti C, Sharpe LT (2008). "The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels". J Vis. 8 (1): 10.1–10. doi:10.1167/8.1.10. PMID 18318613.
• Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR (2010). "Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia)". Ophthalmology. 117 (1): 120–127.e1. doi:10.1016/j.ophtha.2009.06.011. PMID 19818506.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.