GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: GABRA1provided by HGNC
Official Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 1provided by HGNC
Primary source: HGNC:4075
See related: Ensembl:ENSG00000022355; HPRD:00662; MIM:137160; Vega:OTTHUMG00000163586
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EJM; ECA4; EJM5
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]

Genomic context

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Location :: 5q34

Sequence :: Chromosome: 5; NC_000005.9 (161274197..161326965)

See GABRA1 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The SNP rs2081648 in GABAA receptor gene may be related to autism. No evidence for significant association between rs140682 and rs140679 polymorphisms and autism was found.
Title: [Relationship between gene polymorphism of GABAA receptors gene and childhood autism].
In cases of tramadol-induced death, the expression of GABA(A)alpha1 and GABA(B)1 significantly increased in the medulla oblongata solitary nucleus and ambiguous nucleus.
Title: [The expression of GABA(A) receptor alpha1 and GABA(B) receptor 1 in medulla oblongata solitary nucleus and ambiguous nucleus in the cases of tramadol intoxication].
Data show that vasoactive peptide urotensin II receptor and GABA(A)R are co-expressed in cerebellar glial cells from rat brain slices, in human native astrocytes and in glioma cell line.
Title: Down-regulation of GABA(A) receptor via promiscuity with the vasoactive peptide urotensin II receptor. Potential involvement in astrocyte plasticity.
GABA-A receptor subunit alpha1 is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy.
Title: Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy.
upregulation of miR-155 in glioblastoma may downregulate GABRA1 which renders tumor cells unresponsive to GABA signaling.
Title: miR-155 is up-regulated in primary and secondary glioblastoma and promotes tumour growth by inhibiting GABA receptors.
In comparison to healthy donors, chronic hepatitis C patients were found to present an increase in the expression of gamma-aminobutyric acid A receptor alpha1 subunit and a decrease in the expression of beta3 subunit in their blood mononuclear leukocytes.
Title: The altered expression of α1 and β3 subunits of the gamma-aminobutyric acid A receptor is related to the hepatitis C virus infection.
Aberrant methylation at target CpG sites in GABRA1 and LAMA2 was observed with high frequency in tumor tissues.
Title: Identification of GABRA1 and LAMA2 as new DNA methylation markers in colorectal cancer.
In schizophrenic subjects, mean GABA(A) receptor alpha1 subunit mRNA expression is significantly 40% lower in pyramidal cells but is not altered in interneurons.
Title: Selective pyramidal cell reduction of GABA(A) receptor α1 subunit messenger RNA expression in schizophrenia.
Characterisation of the contribution of the GABA-benzodiazepine alpha1 receptor subtype to [(11)C]Ro15-4513 PET images.
Title: Characterisation of the contribution of the GABA-benzodiazepine α1 receptor subtype to [(11)C]Ro15-4513 PET images.
Drugs of abuse directly modulate activity of human alpha(1)beta(2)gamma(2) GABA(A) receptor.
Title: Modulation of human GABAA receptor function: a novel mode of action of drugs of abuse.

Submit: New GeneRIF Correction See all (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Epilepsy, juvenile myoclonic 5

MIM: 611136

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P14867	Q08209	PPP3CA	HPRD	PubMed
P14867	Q05655	PRKCD	HPRD	PubMed
P14867	P05129	PRKCG	HPRD	PubMed
BioGRID:108828	BioGRID:111566	PRKCD	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108828	BioGRID:111568	PRKCG	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108828	BioGRID:119007	UBQLN1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid

Pathways from BioSystems

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GABA A receptor activation, organism-specific biosystem (from REACTOME)
GABA A receptor activation, organism-specific biosystemGABA B receptors are G protein coupled receptors that are activated by GABA binding to the B1 subunit and B2 subunit alters the activity of adenylate cyclase by interacting with the G alpha i/alpha 0...
GABA receptor activation, organism-specific biosystem (from REACTOME)
GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
GABAergic synapse, organism-specific biosystem (from KEGG)
GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
GABAergic synapse, conserved biosystem (from KEGG)
GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
Ion channel transport, organism-specific biosystem (from REACTOME)
Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
Morphine addiction, organism-specific biosystem (from KEGG)
Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
Morphine addiction, conserved biosystem (from KEGG)
Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
Neuroactive ligand-receptor interaction, organism-specific biosystem
Neuroactive ligand-receptor interaction
Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
Neuroactive ligand-receptor interaction, conserved biosystem
Neuroactive ligand-receptor interaction
Neuronal System, organism-specific biosystem (from REACTOME)
Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
Nicotine addiction, organism-specific biosystem (from KEGG)
Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
Nicotine addiction, conserved biosystem (from KEGG)
Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules
Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

General gene information

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Markers

D5S1860 (e-PCR)
- UniSTS:61755

L28408 (e-PCR)
- UniSTS:51014

RH106535 (e-PCR)
- UniSTS:155730

GABRA1_2274 (e-PCR)
- UniSTS:280684

RH123641 (e-PCR)
- UniSTS:136062

WI-19171 (e-PCR)
- UniSTS:40892

Genotypes

See GABRA1 SNP Geneview Report
See GABRA1 SNP Genotype Report
See GABRA1 SNP Variation Viewer Report

Homology

Homologs of the GABRA1 gene: The GABRA1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to GABA receptor activity	ISS Inferred from Sequence or Structural Similarity more info
GABA-A receptor activity	IEA Inferred from Electronic Annotation more info
chloride channel activity	IEA Inferred from Electronic Annotation more info
drug binding	ISS Inferred from Sequence or Structural Similarity more info
extracellular ligand-gated ion channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
gamma-aminobutyric acid signaling pathway	IEA Inferred from Electronic Annotation more info
ion transmembrane transport	TAS Traceable Author Statement more info
synaptic transmission	TAS Traceable Author Statement more info
synaptic transmission, GABAergic	ISS Inferred from Sequence or Structural Similarity more info
transmembrane transport	TAS Traceable Author Statement more info
transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
chloride channel complex	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	TAS Traceable Author Statement more info
postsynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit alpha-1

Names: gamma-aminobutyric acid receptor subunit alpha-1; GABA(A) receptor, alpha 1; GABA(A) receptor subunit alpha-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011548.1 RefSeqGene

Range

5001..57769

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000806.5 → NP_000797.2 gamma-aminobutyric acid receptor subunit alpha-1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses the 5'-most alternate exon in the 5' UTR. Variants 1-7 encode the same protein.

Source sequence(s)

AC021079, AK289792, X14766

Consensus CDS

CCDS4357.1

UniProtKB/TrEMBL

A8K177

UniProtKB/Swiss-Prot

P14867

Conserved Domains (3) summary

TIGR00860
Location:14 – 442
Blast Score: 827

LIC; Cation transporter family protein

pfam02931
Location:43 – 250
Blast Score: 529

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:257 – 340
Blast Score: 366

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001127643.1 → NP_001121115.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.

Source sequence(s)

AC021079, DA228536, DB485936, DB487114, R60404, X13584, X14766

Consensus CDS

CCDS4357.1

UniProtKB/Swiss-Prot

P14867

Related

ENSP00000393097, OTTHUMP00000160870, ENST00000428797, OTTHUMT00000252702

Conserved Domains (3) summary

TIGR00860
Location:14 – 442
Blast Score: 827

LIC; Cation transporter family protein

pfam02931
Location:43 – 250
Blast Score: 529

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:257 – 340
Blast Score: 366

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001127644.1 → NP_001121116.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.

Source sequence(s)

AC021079, DA075784, DA228536, R60404, X14766

Consensus CDS

CCDS4357.1

UniProtKB/Swiss-Prot

P14867

Conserved Domains (3) summary

TIGR00860
Location:14 – 442
Blast Score: 827

LIC; Cation transporter family protein

pfam02931
Location:43 – 250
Blast Score: 529

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:257 – 340
Blast Score: 366

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001127645.1 → NP_001121117.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.

Source sequence(s)

AC021079, BC030696, DC307259

Consensus CDS

CCDS4357.1

UniProtKB/Swiss-Prot

P14867

Related

ENSP00000415441, OTTHUMP00000224393, ENST00000437025, OTTHUMT00000374401

Conserved Domains (3) summary

TIGR00860
Location:14 – 442
Blast Score: 827

LIC; Cation transporter family protein

pfam02931
Location:43 – 250
Blast Score: 529

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:257 – 340
Blast Score: 366

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001127648.1 → NP_001121120.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.

Source sequence(s)

AC021079, DA232066, DC334834, X14766

Consensus CDS

CCDS4357.1

UniProtKB/Swiss-Prot

P14867

Conserved Domains (3) summary

TIGR00860
Location:14 – 442
Blast Score: 827

LIC; Cation transporter family protein

pfam02931
Location:43 – 250
Blast Score: 529

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:257 – 340
Blast Score: 366

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p10 Primary Assembly

Range

161274197..161326965

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

156366532..156419379

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018916.1 Alternate CHM1_1.0

Range

161502655..161555415

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001127646.1: Suppressed sequence

Description

NM_001127646.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript
NM_001127647.1: Suppressed sequence

Description

NM_001127647.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01044200.1 (173229..217001)	None
genomic	ABBA01044201.1	None
genomic	AC021079.4 (96073..108922)	None
genomic	AC108130.3 (64154..103865)	None
genomic	AMYH01015765.1 (851496..904256)	None
genomic	CH471062.2	EAW61537.1
		EAW61538.1
		EAW61539.1
genomic	S69334.1	None
mRNA	AK223447.1	BAD97167.1
mRNA	AK289792.1	BAF82481.1
mRNA	AK295160.1	BAG58174.1
mRNA	AV720972.1	None
mRNA	AW148652.1	None
mRNA	BC030696.1	AAH30696.1
mRNA	BM927274.1	None
mRNA	DA075784.1	None
mRNA	DA228536.1	None
mRNA	DA232066.1	None
mRNA	DB485936.1	None
mRNA	DB487114.1	None
mRNA	DC307259.1	None
mRNA	DC325179.1	None
mRNA	DC334834.1	None
mRNA	R60404.1	None
mRNA	X13584.1	CAA31925.1
mRNA	X14766.1	CAA32874.1
other-genetic	DQ890915.2	ABM81841.1