Regulator of G-protein signaling 9
Domain
In photoreceptor cells the DEP domain is essential for targeting RGS9 to the outer rod segments.
Function
Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity).
Involvement in disease
Prolonged electroretinal response suppression 1
PERRS1
A form of bradyopsia, an ocular disorder characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS1 is an autosomal recessive form with onset in childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Retinal isoform 3 is light-dependent phosphorylated at 'Ser-478'. Phosphorylation is decreased by light exposition (By similarity).
Tissue Specificity
Highly expressed in the caudate and putamen, lower levels found in the hypothalamus and nucleus accumbens and very low levels in cerebellum. Not expressed in globus pallidus or cingulate cortex. Isoform 2 is expressed predominantly in pineal gland and retina. Isoform 3 is expressed in retina (abundant in photoreceptors).
Cellular localization
- Isoform 3
- Membrane
- Peripheral membrane protein
- Isoform 3 is targeted to the membrane via its interaction with RGS9BP.
Alternative names
Regulator of G-protein signaling 9, RGS9