8irj

Structural highlights

Disease

GP179_HUMAN Congenital stationary night blindness. The disease is caused by variants affecting the gene represented in this entry.

Function

GP179_HUMAN Orphan receptor involved in vision (PubMed:22325362, PubMed:24084093). Required for signal transduction through retinal depolarizing bipolar cells (PubMed:22325362). Acts as an atypical G-protein coupled receptor that recruits and regulates the R7 group RGS-GNB5 complexes instead of activating G proteins: promotes the GTPase activator activity of R7 RGS proteins, increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (By similarity). Associates with components of metabotropic signaling cascade in retina ON-bipolar neurons, such as TRPM1 and GRM6: may control the ability of the GRM6 cascade to gate TRPM1 (By similarity).[UniProtKB:E9PY61]^{[1] [2]}

References

1. ↑ Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):331-9. PMID:22325362 doi:10.1016/j.ajhg.2011.12.006
2. ↑ Klooster J, van Genderen MM, Yu M, Florijn RJ, Riemslag FC, Bergen AA, Gregg RG, Peachey NS, Kamermans M. Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model. Invest Ophthalmol Vis Sci. 2013 Oct 23;54(10):6973-81. PMID:24084093 doi:10.1167/iovs.13-12293