GABRR1 Gene Summary [Human]
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | GABRR1 |
| Official Name | gamma-aminobutyric acid type A receptor subunit rho1 [Source:HGNC Symbol;Acc:HGNC:4090] |
| Ensembl ID | ENSG00000146276 |
| Bio databases IDs | |
| Aliases | gamma-aminobutyric acid type A receptor subunit rho1, GABA(A) receptor, rho 1 |
| Synonyms | GABA-C, GABA-C receptor RHO1, GABA-C Recpetor rho1, Gabar1, gamma-aminobutyric acid type A receptor subunit rho 1, γ-aminobutyric acid type A receptor subunit rho 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 GABRR1 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
- intracellular loop
- transmembrane domain of Cys-loop neurotransmitter-gated ion channels
- channel/pore class transporter
- protein domain specific binding
- extracellular ligand-gated ion channel
- Cation transporter family protein
- protein binding
- identical protein binding
- ion channel
- GABA receptor
- anion channel
- neurotransmitter receptor
- binding protein
- LGIC_ECD
- Neurotransmitter-gated ion-channel transmembrane region
- ligand-binding domain
- Neurotransmitter-gated ion-channel ligand binding domain
- chloride channel
- ligand-gated ion channel
- intracellular domain
Pathways
Biological processes and signaling networks where the GABRR1 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
- anxiety disorder
- schizophrenia
- dementia
- depressive disorder
- cancer
- seizures
- convulsion
- status epilepticus
- Crohn disease
- ulcerative colitis
regulates
- GABRR1
- GABA-C receptor
- GABA-A receptor
role in cell
- cell death
- differentiation
- number
- electrophysiology
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
- glutaminergic synapse
- intracellular membrane-bounded organelle
- cell surface
- cell periphery
- cellular membrane
- vesicles
- Endoplasmic Reticulum
- presynaptic membrane
- dendrite initial segments
- synapse
- filopodia
- perikaryon
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GABRR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of membrane potential
- synaptic transmission
- regulation of synaptic transmission
- gamma-aminobutyric acid signaling pathway
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- chloride channel complex
- postsynaptic membrane
- synapse
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- identical protein binding
- GABA-A receptor activity
- neurotransmitter receptor activity
- chloride channel activity
- GABA-gated chloride ion channel activity