GABRB1 Gene Summary [Human]
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GABRB1 |
| Official Name | gamma-aminobutyric acid type A receptor subunit beta1 [Source:HGNC Symbol;Acc:HGNC:4081] |
| Ensembl ID | ENSG00000163288 |
| Bio databases IDs | |
| Aliases | gamma-aminobutyric acid type A receptor subunit beta1, GABA(A) receptor, beta 1 |
| Synonyms | B230208N19RIK, DEE45, EIEE45, GABA A receptor subunit beta1, Gaba-a receptor subunit β-1, gamma-aminobutyric acid type A receptor subunit beta 1, GARB1, γ-aminobutyric acid type A receptor subunit beta1, γ-aminobutyric acid type A receptor subunit β 1 |
| 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 GABRB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GABA-A receptor
- G-protein coupled receptor
- intracellular loop
- transmembrane domain of Cys-loop neurotransmitter-gated ion channels
- channel/pore class transporter
- extracellular ligand-gated ion channel
- Cation transporter family protein
- receptor binding
- ion channel
- anion channel
- neurotransmitter receptor
- LGIC_ECD
- Neurotransmitter-gated ion-channel transmembrane region
- Neurotransmitter-gated ion-channel ligand binding domain
- chloride channel
- ligand-gated ion channel
- intracellular domain
Pathways
Biological processes and signaling networks where the GABRB1 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
- Alzheimer disease
- ulcerative colitis
- treatment resistant depression
- sedation
- pain
- dental anxiety
- major depression
- skin laceration
- disorder of coronary artery
- heart failure
regulates
- chloride
- ion
role in cell
- response by
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
- cellular membrane
- presynaptic membrane
- synaptic membrane
- nuclear envelope
- synapse
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GABRB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of postsynaptic membrane potential
- ion transport
- regulation of membrane potential
- cellular response to histamine
- signal transduction
- response to progesterone stimulus
- synaptic transmission
- central nervous system neuron development
- ovulation cycle
- response to toxin
- gamma-aminobutyric acid signaling pathway
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- nuclear envelope
- dendrite
- synapse
- presynaptic active zone membrane
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ligand-gated ion channel activity
- neurotransmitter receptor activity
- GABA-A receptor activity
- chloride channel activity
- GABA receptor binding
- GABA-gated chloride ion channel activity