GNAO1 Gene Summary [Human]
The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | GNAO1 |
| Official Name | G protein subunit alpha o1 [Source:HGNC Symbol;Acc:HGNC:4389] |
| Ensembl ID | ENSG00000087258 |
| Bio databases IDs | |
| Aliases | G protein subunit alpha o1 |
| Synonyms | alphaO, AW050213, DEE17, EIEE17, G-ALPHA-o, GAO2, GNAO, GNAO2, Go, Go2 α, Go alpha subunit 2, Go α, Go α subunit 2, G protein alpha O subunit, G protein ao, G protein O, G protein subunit alpha o1, G protein subunit α o1, G-protein α o, G protein α o1, G protein α O subunit, guanine nucleotide binding protein, alpha O, guanine nucleotide binding protein, α O, G zero, G α-O, HG1G, HLA-DQB1, NEDIM, RATBPGTPC |
| 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 GNAO1 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
- G-protein-coupled receptor binding
- GTPase
- enzyme
- enzyme regulator activity
- protein binding
- receptor binding
- GTP binding
- ADP-ribosylation domain
- GTPase domain
- GDP binding
- G-protein alpha subunit
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the GNAO1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- AMPK Signaling
- Apelin Endothelial Signaling Pathway
- Apelin Muscle Signaling Pathway
- Cardiac β-adrenergic Signaling
- CCR3 Signaling in Eosinophils
- CCR5 Signaling in Macrophages
- Corticotropin Releasing Hormone Signaling
- CXCR4 Signaling
- Endocannabinoid Cancer Inhibition Pathway
- Endocannabinoid Developing Neuron Pathway
- Endothelin-1 Signaling
- Ephrin B Signaling
- Ephrin Receptor Signaling
- fMLP Signaling in Neutrophils
- G Beta Gamma Signaling
- GABA Receptor Signaling
- Gαi Signaling
- Gαq Signaling
- Gαs Signaling
- IL-1 Signaling
- IL-8 Signaling
- Melatonin Signaling
- Molecular Mechanisms of Cancer
- Relaxin Signaling
- RhoGDI Signaling
- 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
- depressive disorder
- neoplasia
- cancer
- neoplastic cell transformation
- insomnia
- Ohtahara syndrome
- choreoathetosis
- early infantile epileptic encephalopathy type 17
- neurodevelopmental disorder with involuntary movements
- hereditary disorder
role in cell
- cell death
- expression in
- phosphorylation in
- apoptosis
- proliferation
- differentiation
- activation in
- colony formation
- molecular cleavage in
- number
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
- detergent-insoluble membrane fraction
- plasma membrane fraction
- myelin enriched fraction
- detergent-soluble membrane fractions
- membrane fraction
- detergent resistant lipid raft fraction
- synaptic vesicle membrane
- glutaminergic synapse
- perimembrane region
- Cytoplasm
- cell surface
- perinuclear region
- cellular membrane
- cell cortex
- Nucleus
- Golgi Apparatus
- cytosol
- vesicle membrane
- caveolar membranes
- presynaptic membrane
- postsynaptic membrane
- synaptic vesicles
- growth cone
- myelin sheath
- synapse
- dense-core vesicles
- transverse tubules
- perikaryon
- axons
- dendrites
- excitatory synapses
- clathrin-coated vesicles
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GNAO1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- locomotory behavior
- muscle contraction
- vesicle docking involved in exocytosis
- dopamine receptor signaling pathway
- regulation of heart contraction
- adenylate cyclase-modulating G-protein coupled receptor signaling pathway
- negative regulation of insulin secretion
Cellular Component
Where in the cell the gene product is active
- dendrite
- heterotrimeric G-protein complex
- cytoplasm
- cell body
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- metal ion binding
- corticotropin-releasing hormone receptor 1 binding
- GTPase activity
- G-protein beta/gamma-subunit complex binding
- G-protein coupled serotonin receptor binding
- mu-type opioid receptor binding