GABRA1 - gamma-aminobutyric acid (GABA) A receptor, alpha 1
Entrez Gene Name: gamma-aminobutyric acid (GABA) A receptor, alpha 1
Entrez GeneID: Human(2554)
, Mouse(14394), Rat(29705)
, Mouse(14394), Rat(29705) Synonyms: Alpha-1 gaba A receptor, ECA4, EJM, GABA A RECEPTOR SUBUNIT ALPHA1, GABA-A RECEPTOR ALPHA1, GABRA1
Gene Summary
- Human (2554): This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq]
- Rat (29705): subunit of GABAA receptors, which bind benzodiazepines and act as inhibitory ion channels in the brain [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
chloride transport, gamma-aminobutyric acid signaling pathway, ion transport, transport
Cellular Components
cell junction, integral to membrane, integral to plasma membrane, membrane, plasma membrane, postsynaptic membrane, synapse
Literature References
- 10548105Rudolph U, Crestani F, Benke D, Brünig I, Benson JA, Fritschy JM, Martin JR, Bluethmann H, Möhler H. Benzodiazepine actions mediated by specific gamma-aminobutyric acid(A) receptor subtypes.Nature 1999 Oct 21;401(6755):796-800
- 18534981Bradley CA, Taghibiglou C, Collingridge GL, Wang YT. Mechanisms Involved in the Reduction of GABAA Receptor {alpha}1-Subunit Expression Caused by the Epilepsy Mutation A322D in the Trafficking-competent Receptor.J Biol Chem 2008 Aug 08;283(32):22043-50
- 17012619Sancar F, Ericksen SS, Kucken AM, Teissére JA, Czajkowski C. Structural Determinants for High-Affinity Zolpidem Binding to GABA-A receptors.Mol Pharmacol 2007 Jan 01;71(1):38-46 View 619 categorized literature findings and their references in IPA
Molecular Functions
benzodiazepine receptor activity, chloride channel activity, chloride ion binding, drug binding, extracellular ligand-gated ion channel activity, GABA-A receptor activity, inhibitory extracellular ligand-gated ion channel activity, ion channel activity, neurotransmitter receptor activity, protein binding, receptor activity
Protein Domains
benzodiazepine receptor, drug binding, extracellular domain, extracellular ligand binding domain, GABA-A receptor, inhibitory extracellular ligand-gated ion channel, intracellular domain, ion channel, neurotransmitter-gated ion channel ligand binding domain, protein binding
Subcellular Locations
cell body, cell surface, cellular membrane, dendrites, endoplasmic reticulum, intracellular space, membrane fraction, plasma membrane, postsynaptic density, presynaptic membrane, synapse, synaptic clefts
