Description: Homo sapiens regulator of G protein signaling 9 binding protein (RGS9BP), mRNA. RefSeq Summary (NM_207391): 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]. Transcript (Including UTRs) Position: hg19 chr19:33,166,313-33,169,206 Size: 2,894 Total Exon Count: 1 Strand: + Coding Region Position: hg19 chr19:33,167,170-33,167,877 Size: 708 Coding Exon Count: 1
ID:R9BP_HUMAN DESCRIPTION: RecName: Full=Regulator of G-protein signaling 9-binding protein; AltName: Full=RGS9-anchoring protein; FUNCTION: Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place. Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by protecting it from degradation (By similarity). SUBUNIT: Specifically interacts with isoform RGS9-1 of RGS9. Component of the RGS9-1-Gbeta5 complex composed of RGS9-1, Gbeta5 (GNB5) and RGS9BP (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type IV membrane protein (By similarity). DISEASE: Defects in RGS9BP are a cause of prolonged electroretinal response suppression (PERRS) [MIM:608415]; also known as bradyopsia. PERRS is characterized by difficulty adjusting to sudden changes in luminance levels mediated by cones. SIMILARITY: Belongs to the RGS7BP/RGS9BP family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6ZS82
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0007601 visual perception GO:0009968 negative regulation of signal transduction GO:0050896 response to stimulus GO:0050908 detection of light stimulus involved in visual perception
Cellular Component: GO:0001750 photoreceptor outer segment GO:0016020 membrane GO:0016021 integral component of membrane
Descriptions from all associated GenBank mRNAs
AK124499 - Homo sapiens cDNA FLJ42508 fis, clone BRACE2043665. AK127646 - Homo sapiens cDNA FLJ45744 fis, clone KIDNE2017153. BC172343 - Synthetic construct Homo sapiens clone IMAGE:100069037, MGC:199048 regulator of G protein signaling 9 binding protein (RGS9BP) mRNA, encodes complete protein. DQ598110 - Homo sapiens piRNA piR-36176, complete sequence. AF086461 - Homo sapiens full length insert cDNA clone ZD85E06.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q6ZS82 (Reactome details) participates in the following event(s):