RGS9BP

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. [provided by RefSeq, Mar 2010]

Description

Regulator of G protein signaling 9 binding protein

Tissue specificity

Group enriched (choroid plexus, retina, skeletal muscle)

Subcell location

Plasma membrane

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

19 (32675848 - 32678300)

Ensembl ID

ENSG00000186326  (ver. 103.38)

Orthologs

Mouse Rgs9bp: ENSMUSG00000056043

UniProt

Q6ZS82

neXtProt

NX_Q6ZS82

Human splice variants
Mouse splice variants

Protein structure