GABRA1

GENERAL INFORMATION

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Gene name

GABRA1

Gene description

Gamma-aminobutyric acid (GABA) A receptor, alpha 1

Protein class

Disease related genes
FDA approved drug targets
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Membrane,Secreted

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus)

Protein evidence

Evidence at protein level

Protein localization

Selective expression in neuropil and subset of neurons.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA055746 , CAB022502
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus)

Organ

Expression



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

Cytoband

q34

Chromosome location (bp)

161847191 - 161899969

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000022355 (version 78.38)

Entrez gene

2554

UniProt

P14867 (UniProt - Evidence at protein level)

neXtProt

NX_P14867

Antibodypedia

GABRA1 antibodies


PROTEIN BROWSER

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ENST00000023897
 
ENST00000393943
 
ENST00000428797
 
ENST00000437025
 
ENST00000519621
 
ENST00000521339
 
ENST00000522651
 
 
 
 


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 » Show » 123 14.3 Yes 0