Homo sapiens Gene: GABRA1
Summary
InnateDB Gene IDBG-56393.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GABRA1
Gene Name gamma-aminobutyric acid (GABA) A receptor, alpha 1
Synonyms ECA4; EIEE19; EJM; EJM5;
Species Homo sapiens
Ensembl Gene ENSG00000022355
Encoded Proteins
gamma-aminobutyric acid (GABA) A receptor, alpha 1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
Protein Structure
Entrez Gene
Summary 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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:161847191-161899969
Strand Forward strand
Band q34
Transcripts
ENST00000023897 ENSP00000023897
ENST00000393943 ENSP00000377517
ENST00000428797 ENSP00000393097
ENST00000437025 ENSP00000415441
ENST00000521339 ENSP00000430895
ENST00000522651 ENSP00000430507
ENST00000519621 ENSP00000430435
ENST00000519542
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:0005515 protein binding
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:0071420 cellular response to histamine
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Ligand-gated ion channel transport pathway
Neuronal System pathway
GABA receptor activation pathway
Orphan transporters pathway
Ion channel transport pathway
Transmission across Chemical Synapses pathway
GABA A receptor activation pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
KEGG
Neuroactive ligand-receptor interaction pathway
INOH
PID BIOCARTA
Gamma-aminobutyric acid receptor life cycle pathway [Biocarta view]
Cardiac protection against ros [Biocarta view]
PID NCI
Cross-References
SwissProt P14867
TrEMBL E5RHL6 E5RJS3 E5RK60
UniProt Splice Variant
Entrez Gene 2554
UniGene Hs.175934 Hs.595114
RefSeq NM_000806 NM_001127643 NM_001127644 NM_001127645 NM_001127648
HUGO HGNC:4075
OMIM 137160
CCDS CCDS4357
HPRD 00662
IMGT
EMBL AC021079 AC108130 BC030696 CH471062 X13584 X14766
GenPept AAH30696 CAA31925 CAA32874 EAW61538 EAW61539
ImmGen GABRA1 (murine)
RNA Seq Atlas 2554