RGS9 Gene Summary [Human]
This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Details
| Type | Processed Transcript |
| Official Symbol | RGS9 |
| Official Name | regulator of G protein signaling 9 [Source:HGNC Symbol;Acc:HGNC:10004] |
| Ensembl ID | ENSG00000108370 |
| Bio databases IDs | |
| Aliases | regulator of G protein signaling 9, regulator of G protein signalling 9, regulator of G protein signalling 9L, regulator of G-protein signaling 9L |
| Synonyms | PERRS, PERRS1, regulator of G-protein signaling 9, RGS9-2, RGS9L |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RGS9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Regulator of G protein signaling domain
- Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
- DEP
- GGL
- Regulator of G-protein signalling DHEX domain
- Regulator of G protein signaling (RGS) domain superfamily
- GTPase
- GTPase activator
- enzyme
- protein binding
- GGL domain
Pathways
Biological processes and signaling networks where the RGS9 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- prolonged electroretinal response suppression 1
- retinal dystrophy
- Leber congenital amaurosis type 1
role in cell
- electrophysiology
- aggregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- cellular membrane
- Plasma Membrane
- presynaptic membrane
- synaptic membrane
- photoreceptor outer segments
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RGS9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of signal transduction
- response to amphetamine
- G-protein coupled receptor signaling pathway
- response to estradiol stimulus
- dopamine receptor signaling pathway
- nervous system development
- regulation of G-protein coupled receptor protein signaling pathway
- visual perception
- positive regulation of GTPase activity
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- cytoplasm
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTPase activity
- GTPase activator activity