Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
HomeAbout PhosphoSiteUsing PhosphoSiteprivacy & cookiesCuration ProcessContact
logos LINCs Logo Mt Sinai Logo NIH Logo NCI Logo
Protein Page:
GABRA1 (human)

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: integral to plasma membrane; plasma membrane
Molecular Function: drug binding; GABA receptor activity; GABA-gated chloride ion channel activity
Biological Process: synaptic transmission, GABAergic; transport
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
Select Structure to View Below


Protein Structure Not Found.

STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein