GNAQ Gene Summary [Human]
This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
Details
| Type | Protein Coding |
| Official Symbol | GNAQ |
| Official Name | G protein subunit alpha q [Source:HGNC Symbol;Acc:HGNC:4390] |
| Ensembl ID | ENSG00000156052 |
| Bio databases IDs | |
| Aliases | G protein subunit alpha q |
| Synonyms | 1110005L02Rik, 6230401I02Rik, CMAL, CMC1, DKFZp686D0521, Dsk1, Dsk10, G-ALPHA-q, GAQ, G protein alpha Q, G protein alpha Q/11, G protein subunit alpha q, G protein subunit α q, G protein α Q, G protein α Q/11, Gq, Gqalpha, GqI, Gq protein alpha subunit, Gq protein α subunit, Gqα, guanine nucleotide binding protein, alpha q polypeptide, guanine nucleotide binding protein, α q polypeptide, G-α-q, Pst receptor, SWS |
| 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 GNAQ often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G protein alpha subunit
- small monomeric GTPase
- alkylglycerophosphoethanolamine phosphodiesterase
- GTPase
- GTPase activator
- enzyme
- enzyme regulator activity
- protein binding
- GTP binding
- PLC beta binding domain
- binding protein
- GTPase domain
- G-protein alpha subunit
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the GNAQ gene in human plays a role, providing insight into its function and relevance in health or disease.
- Androgen Signaling
- Apelin Endothelial Signaling Pathway
- Apelin Muscle Signaling Pathway
- Cardiac β-adrenergic Signaling
- CCR3 Signaling in Eosinophils
- Chemokine Signaling
- Cholecystokinin/Gastrin-mediated Signaling
- Corticotropin Releasing Hormone Signaling
- CXCR4 Signaling
- Docosahexaenoic Acid (DHA) Signaling
- Dopamine-DARPP32 Feedback in cAMP Signaling
- Endocannabinoid Cancer Inhibition Pathway
- eNOS Signaling
- Ephrin B Signaling
- ERK5 Signaling
- fMLP Signaling in Neutrophils
- G Beta Gamma Signaling
- IL-1 Signaling
- IL-8 Signaling
- P2Y Purinergic Receptor Signaling Pathway
- Protein Kinase A Signaling
- Role of Tissue Factor in Cancer
- Synaptic Long Term Potentiation
- Thrombin Signaling
- WNT/β-catenin Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- heart failure
- neoplasia
- cancer
- bleeding
- large intestine cancer
- epithelial cancer
- tumorigenesis
- osteopenia
- cutaneous melanoma
- cutaneous melanoma cancer
role in cell
- binding
- activation in
- apoptosis
- differentiation
- phosphorylation in
- cell death
- proliferation
- expression in
- molecular cleavage in
- production in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- microsomal fraction
- plasma membrane fraction
- myelin enriched fraction
- soluble fraction
- membrane fraction
- insoluble fractions
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cholesterol-rich microdomain
- Cytoplasm
- presynaptic regions
- Golgi region
- cell periphery
- cellular membrane
- Nucleus
- caveolae
- nuclear envelope
- photoreceptor outer segments
- microfilaments
- membrane rafts
- perikaryon
- axons
- dendrites
- exosomes
- plasma
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GNAQ gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- G-protein coupled acetylcholine receptor signaling pathway
- blood coagulation
- adenylate cyclase-activating G-protein coupled receptor signaling pathway
- phospholipase C-activating dopamine receptor signaling pathway
- negative regulation of protein kinase activity
- glutamate receptor signaling pathway
- phototransduction, visible light
- entrainment of circadian clock
- regulation of canonical Wnt receptor signaling pathway
- regulation of action potential
- protein stabilization
- regulation of platelet activation
Cellular Component
Where in the cell the gene product is active
- nuclear membrane
- extracellular vesicular exosome
- heterotrimeric G-protein complex
- cytoplasm
- Golgi apparatus
- synapse
- lysosomal membrane
- plasma membrane
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- GTP binding
- G-protein coupled receptor binding
- protein binding
- metal ion binding
- GTPase activity
- GTPase activator activity
- G-protein beta/gamma-subunit complex binding