Homo sapiens Gene: GABRA1

Summary
InnateDB Gene IDBG-56393.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol GABRA1
Gene Name gamma-aminobutyric acid (GABA) A receptor, alpha 1
Synonyms ECA4; EJM; EJM5
Species Homo sapiens
Ensembl Gene ENSG00000022355
Encoded Proteins
IDBP-56395 gamma-aminobutyric acid (GABA) A receptor, alpha 1
IDBP-242597 gamma-aminobutyric acid (GABA) A receptor, alpha 1
IDBP-381113 gamma-aminobutyric acid (GABA) A receptor, alpha 1
IDBP-381114 gamma-aminobutyric acid (GABA) A receptor, alpha 1
IDBP-381115 gamma-aminobutyric acid (GABA) A receptor, alpha 1
IDBP-381117 gamma-aminobutyric acid (GABA) A receptor, alpha 1
IDBP-475302 gamma-aminobutyric acid (GABA) A receptor, alpha 1
IDBP-480212 gamma-aminobutyric acid (GABA) A receptor, alpha 1
IDBP-476159 gamma-aminobutyric acid (GABA) A receptor, alpha 1
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: 161274197-161326975
Strand Forward strand
Band q34
Transcripts
ENST00000023897  ENSP00000023897
ENST00000393943  ENSP00000377517
ENST00000428797  ENSP00000393097
ENST00000437025  ENSP00000415441
ENST00000420560  ENSP00000408041
ENST00000444819  ENSP00000414232
ENST00000521339  ENSP00000430895
ENST00000522651  ENSP00000430507
ENST00000519621  ENSP00000430435
ENST00000519542 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein‑Protein  2
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total 1 [view]
Gene Ontology
Accession GO Term
Molecular Function
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:0007214 gamma-aminobutyric acid signaling pathway
GO:0007268 synaptic transmission
GO:0034220 ion transmembrane transport
GO:0051932 synaptic transmission, GABAergic
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral to plasma membrane
GO:0016020 membrane
GO:0016021 integral to 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
ENSMUSG00000010803 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000030286 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
hsa04080  Neuroactive ligand-receptor interaction
INOH
PID BIOCARTA
100163 Cardiac protection against ros [Biocarta view]
100158 Gamma-aminobutyric acid receptor life cycle pathway [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_001127646  NM_001127647  NM_001127648 
HUGO 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