RGS9BP
Regulator of G protein signaling 9 binding protein is a protein that in humans is encoded by the RGS9BP gene. [5]
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| 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 | ||||||||||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||||||||||
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| Location (UCSC) | Chr 19: 32.68 – 32.68 Mb | Chr 7: 35.58 – 35.59 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
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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
- GRCh38: Ensembl release 89: ENSG00000186326 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000056043 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "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. 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.