GABRA1 GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4). A subtype of idiopathic generalized epilepsy characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures may develop. Absence seizures may either remit or persist into adulthood. Defects in GABRA1 are the cause of juvenile myoclonic epilepsy type 5 (EJM5). A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily. Note: This description may include information from UniProtKB.
Protein type: Channel, ligand-gated; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: 5q34
Cellular Component:  cell junction; chloride channel complex; cytoplasmic vesicle membrane; GABA receptor complex; GABA-A receptor complex; integral component of plasma membrane; neuron projection; plasma membrane; postsynapse; postsynaptic membrane; synapse
Molecular Function:  benzodiazepine receptor activity; chloride channel activity; drug binding; extracellular ligand-gated ion channel activity; GABA receptor activity; GABA-A receptor activity; GABA-gated chloride ion channel activity; inhibitory extracellular ligand-gated ion channel activity; transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
Biological Process:  cellular response to histamine; gamma-aminobutyric acid signaling pathway; neurological system process; regulation of membrane potential; regulation of postsynaptic membrane potential; signal transduction; synaptic transmission; synaptic transmission, GABAergic
Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 13; Epileptic Encephalopathy, Early Infantile, 19
Reference #:  P14867 (UniProtKB)
Alt. Names/Synonyms: ECA4; EJM; EJM5; GABA(A) receptor subunit alpha-1; GABRA1; gamma-aminobutyric acid (GABA) A receptor, alpha 1; Gamma-aminobutyric acid receptor subunit alpha-1; GBRA1
Gene Symbols: GABRA1
Molecular weight: 51,802 Da
Basal Isoelectric point: 9.27  Predict pI for various phosphorylation states
CST Pathways:  PI3K/Akt Signaling
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Protein Structure Not Found.

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