GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRA1provided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit alpha1provided by HGNC
Primary source: HGNC:HGNC:4075
See related: Ensembl:ENSG00000022355 MIM:137160; AllianceGenome:HGNC:4075
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; DEE19; EIEE19
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]
Expression: Restricted expression toward brain (RPKM 37.3) See more
Orthologs: mouse all
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Genomic context

Location:: 5q34

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (161847191..161899971)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (162376027..162428794)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (161274197..161326977)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.
Title: Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human.
Impact of GABAA receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.
Title: Impact of GABA(A) receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case-control study.
GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
Title: GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
In Silico Screening of Novel alpha1-GABAA Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines.
Title: In Silico Screening of Novel α1-GABA(A) Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines.
Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1.
Title: Inhibition of microRNA-129-2-3p protects against refractory temporal lobe epilepsy by regulating GABRA1.
Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia.
Title: Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia.
Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABAA) receptors.
Title: Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABA(A)) receptors.
Differential Coassembly of alpha1-GABAARs Associated with Epileptic Encephalopathy.
Title: Differential Coassembly of α1-GABA(A)Rs Associated with Epileptic Encephalopathy.
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
Title: A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
Title: Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.

Submit: New GeneRIF Correction See all GeneRIFs (107)

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

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 19 MedGen: C3810400 OMIM: 615744 GeneReviews: Not available	Compare labs
Epilepsy, idiopathic generalized, susceptibility to, 13 MedGen: C4013473 OMIM: 611136 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2021-11-09) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-11-09) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to GABA receptor activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables GABA-A receptor activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to GABA-gated chloride ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables GABA-gated chloride ion channel activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to benzodiazepine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in gamma-aminobutyric acid signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in inhibitory synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in inhibitory synapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, GABAergic	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, GABAergic	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic transmission, GABAergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic transmission, GABAergic	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of GABA receptor complex	ISS Inferred from Sequence or Structural Similarity more info
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of GABA-A receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of GABA-A receptor complex	IPI Inferred from Physical Interaction more info	PubMed
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in dendritic spine	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic specialization membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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

Names: GABA(A) receptor subunit alpha-1; GABA(A) receptor, alpha 1; GABAAR subunit alpha-1; gamma-aminobutyric acid (GABA) A receptor, alpha 1; gamma-aminobutyric acid type A receptor alpha1 subunit

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

5930..57781

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for NP_000797.2

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/Swiss-Prot

D3DQK6, P14867, Q8N629

UniProtKB/TrEMBL

A8K177

Related

ENSP00000023897.6, ENST00000023897.10

Conserved Domains (2) summary

TIGR00860
Location:14 → 442

LIC; Cation transporter family protein

cd19034
Location:56 → 249

LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)
NM_001127643.2 → NP_001121115.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

See identical proteins and their annotated locations for NP_001121115.1

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, DB487114, R60404, X13584, X14766

Consensus CDS

CCDS4357.1

UniProtKB/Swiss-Prot

D3DQK6, P14867, Q8N629

UniProtKB/TrEMBL

A8K177

Related

ENSP00000393097.2, ENST00000428797.7

Conserved Domains (2) summary

TIGR00860
Location:14 → 442

LIC; Cation transporter family protein

cd19034
Location:56 → 249

LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)
NM_001127644.2 → NP_001121116.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

See identical proteins and their annotated locations for NP_001121116.1

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

D3DQK6, P14867, Q8N629

UniProtKB/TrEMBL

A8K177

Related

ENSP00000377517.4, ENST00000393943.10

Conserved Domains (2) summary

TIGR00860
Location:14 → 442

LIC; Cation transporter family protein

cd19034
Location:56 → 249

LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)
NM_001127645.2 → NP_001121117.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

See identical proteins and their annotated locations for NP_001121117.1

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

D3DQK6, P14867, Q8N629

UniProtKB/TrEMBL

A8K177

Related

ENSP00000415441.2, ENST00000437025.6

Conserved Domains (2) summary

TIGR00860
Location:14 → 442

LIC; Cation transporter family protein

cd19034
Location:56 → 249

LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)
NM_001127648.2 → NP_001121120.1 gamma-aminobutyric acid receptor subunit alpha-1 precursor

See identical proteins and their annotated locations for NP_001121120.1

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

D3DQK6, P14867, Q8N629

UniProtKB/TrEMBL

A8K177

Related

ENSP00000490320.1, ENST00000636573.1

Conserved Domains (2) summary

TIGR00860
Location:14 → 442

LIC; Cation transporter family protein

cd19034
Location:56 → 249

LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

161847191..161899971

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

162376027..162428794

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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.