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

Gene ID: 2554, updated on 2-Mar-2021

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
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

See GABRA1 in Genome Data Viewer
Location:
5q34
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (161847191..161899971)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (161274197..161326977)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes 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 gamma-aminobutyric acid type A receptor subunit gamma2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, juvenile myoclonic 5
MedGen: C4013473 OMIM: 611136 GeneReviews: Not available
Compare labs
Epileptic encephalopathy, early infantile, 19
MedGen: C3810400 OMIM: 615744 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2017-08-09)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2017-08-09)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
GABA-gated chloride ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to 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
PubMed 
contributes_to chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
drug binding ISS
Inferred from Sequence or Structural Similarity
more info
 
inhibitory extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inhibitory synapse assembly IDA
Inferred from Direct Assay
more info
PubMed 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, GABAergic ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
GABA receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GABA-A receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    5001..57769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000806.5NP_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
    P14867
    UniProtKB/TrEMBL
    A8K177
    Related
    ENSP00000023897.6, ENST00000023897.10
    Conserved Domains (1) summary
    cl27321
    Location:14442
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  2. NM_001127643.2NP_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
    P14867
    Related
    ENSP00000393097.2, ENST00000428797.7
    Conserved Domains (1) summary
    cl27321
    Location:14442
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  3. NM_001127644.2NP_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
    P14867
    Related
    ENSP00000377517.4, ENST00000393943.10
    Conserved Domains (1) summary
    cl27321
    Location:14442
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  4. NM_001127645.2NP_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
    P14867
    Related
    ENSP00000415441.2, ENST00000437025.6
    Conserved Domains (1) summary
    cl27321
    Location:14442
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
  5. NM_001127648.2NP_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
    P14867
    Related
    ENSP00000490320.1, ENST00000636573.1
    Conserved Domains (1) summary
    cl27321
    Location:14442
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    161847191..161899971
    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.
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