GABRA1

GENE INFORMATION

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Gene name

GABRA1 (HGNC Symbol)

Synonyms

EJM5

Description

gamma-aminobutyric acid (GABA) A receptor, alpha 1 (HGNC Symbol)

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]

Chromosome

5 (Chromosome progress)

Cytoband

q34

Chromosome location (bp)

161274197 - 161326975

Ensembl

ENSG00000022355 (version 73.37)

Entrez gene

2554

UniProt

P14867 (UniProt - Evidence at protein level)

neXtProt

NX_P14867

Antibodypedia

GABRA1 antibodies
 

PROTEIN VIEW

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GABRA1-001
 
GABRA1-002
 
GABRA1-004
 
GABRA1-005
 
GABRA1-006
 
GABRA1-007
 
GABRA1-008
 
GABRA1-201
 
GABRA1-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GABRA1-001 ENSP00000393097
ENST00000428797
P14867
Show all »
Show » Show » 456 51.8 Yes 4
GABRA1-002 ENSP00000023897
ENST00000023897
P14867
Show all »
Show » Show » 456 51.8 Yes 4
GABRA1-004 ENSP00000415441
ENST00000437025
P14867
Show all »
Show » Show » 456 51.8 Yes 4
GABRA1-005 ENSP00000377517
ENST00000393943
P14867
Show all »
Show » Show » 456 51.8 Yes 4
GABRA1-006 ENSP00000430895
ENST00000521339
E5RHL6
Show all »
Show » Show » 91 10.3 Yes 0
GABRA1-007 ENSP00000430507
ENST00000522651
E5RJS3
Show all »
Show » Show » 85 9.6 Yes 0
GABRA1-008 ENSP00000430435
ENST00000519621
E5RK60
Show all »
Show » 123 14.3 Yes 0
GABRA1-201 ENSP00000408041
ENST00000420560
P14867
Show all »
Show » Show » 456 51.8 Yes 4
GABRA1-202 ENSP00000414232
ENST00000444819
P14867
Show all »
Show » Show » 456 51.8 Yes 4