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

Gene ID: 2554, updated on 14-Nov-2024

Summary

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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
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Genomic context

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See GABRA1 in Genome Data Viewer
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_000005.10Genomic Context describing neighboring genes Neighboring gene GABRA6 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:161139938-161140544 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha6 Neighboring gene glutaredoxin pseudogene 3 Neighboring gene uncharacterized LOC105377696 Neighboring gene long intergenic non-protein coding RNA 1202 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:161463099-161463705 Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation. Gallagher MJ, et al. Proc Natl Acad Sci U S A, 2007 Aug 7. PMID 17670950, Free PMC Article
  2. Association study of GABA system genes polymorphisms with amphetamine-induced psychotic disorder in a Han Chinese population. Zhang K, et al. Neurosci Lett, 2016 May 27. PMID 27080428
  3. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Cossette P, et al. Nat Genet, 2002 Jun. PMID 11992121
  4. De novo GABRA1 mutations in Ohtahara and West syndromes. Kodera H, et al. Epilepsia, 2016 Apr. PMID 26918889
  5. Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha1 subunit. Gallagher MJ, et al. J Biol Chem, 2005 Nov 11. PMID 16123039

See all (156) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
    Title: GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Differential Coassembly of alpha1-GABAARs Associated with Epileptic Encephalopathy.
    Title: Differential Coassembly of α1-GABA(A)Rs Associated with Epileptic Encephalopathy.
  9. 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.
  10. 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
not available
Epilepsy, idiopathic generalized, susceptibility to, 13
MedGen: C4013473 OMIM: 611136 GeneReviews: Not available
not available

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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

  1. NG_011548.1 RefSeqGene

    Range
    5930..57781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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)

  4. 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)

  5. 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

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    161847191..161899971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    162376027..162428794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001127646.1: Suppressed sequence

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

  2. 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 Accession Links
GenPept Link UniProtKB Link
P14867.3 GenPept UniProtKB/Swiss-Prot:P14867

Gene LinkOut

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