RGS9BP

Regulator of G protein signaling 9 binding protein is a protein that in humans is encoded by the RGS9BP gene. [5]

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
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.11 Start 32,675,848 bp[1] End 32,678,300 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B2 Start 35,578,993 bp[2] End 35,585,582 bp[2]
RNA expression pattern 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: 35.58 – 35.59 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.

References

1. GRCh38: Ensembl release 89: ENSG00000186326 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056043 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Regulator of G protein signaling 9 binding protein". Retrieved 2017-05-19.

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. doi:10.1038/nature02170. PMID 14702087.
• 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.