InnateDB: Systems Biology of the Innate Immune Response

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

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-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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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