Homo sapiens Protein: GABRA1
Summary
InnateDB Protein IDBP-242597.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GABRA1
Protein Name gamma-aminobutyric acid (GABA) A receptor, alpha 1
Synonyms ECA4; EIEE19; EJM; EJM5;
Species Homo sapiens
Ensembl Protein ENSP00000377517
InnateDB Gene IDBG-56393 (GABRA1)
Protein Structure
UniProt Annotation
Function Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel (By similarity). {ECO:0000250}.
Subcellular Localization Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
Disease Associations Epilepsy, childhood absence 4 (ECA4) [MIM:611136]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269PubMed:16718694}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136]: 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. {ECO:0000269PubMed:11992121}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004890 GABA-A receptor activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005254 chloride channel activity
GO:0008144 drug binding
GO:0016917 GABA receptor activity
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0007165 signal transduction
GO:0007214 gamma-aminobutyric acid signaling pathway
GO:0007268 synaptic transmission
GO:0034220 ion transmembrane transport
GO:0051932 synaptic transmission, GABAergic
GO:0055085 transmembrane transport
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0034707 chloride channel complex
GO:0045211 postsynaptic membrane
Protein Structure and Domains
PDB ID
InterPro IPR001390 Gamma-aminobutyric-acid A receptor, alpha subunit
IPR005431 Gamma-aminobutyric-acid A receptor, alpha 1 subunit
IPR005437 Gamma-aminobutyric-acid A receptor, gamma subunit
IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
IPR006201 Neurotransmitter-gated ion-channel
IPR006202 Neurotransmitter-gated ion-channel ligand-binding
PFAM PF02932
PF02931
PRINTS PR01079
PR01614
PR01620
PR00253
PR00252
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P14867
PhosphoSite PhosphoSite-P14867
TrEMBL E5RK60
UniProt Splice Variant
Entrez Gene 2554
UniGene Hs.595114
RefSeq NP_001121116
HUGO HGNC:4075
OMIM 137160
CCDS CCDS4357
HPRD 00662
IMGT
EMBL AC021079 AC108130 BC030696 CH471062 X13584 X14766
GenPept AAH30696 CAA31925 CAA32874 EAW61538 EAW61539