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Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 [ Mus musculus (house mouse) ]

Gene ID: 14394, updated on 14-Nov-2024

Summary

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Official Symbol
Gabra1provided by MGI
Official Full Name
gamma-aminobutyric acid type A receptor subunit alpha 1provided by MGI
Primary source
MGI:MGI:95613
See related
Ensembl:ENSMUSG00000010803 AllianceGenome:MGI:95613
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gabra-1; GABAA-alpha1; GABAAR-alpha1
Summary
Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to GABA-gated chloride ion channel activity. Involved in inhibitory synapse assembly. Located in plasma membrane. Is active in GABA-ergic synapse. Is expressed in central nervous system; eye; palatal shelf; and submandibular gland primordium. Used to study idiopathic generalized epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 19 and idiopathic generalized epilepsy 13. Orthologous to human GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in cerebellum adult (RPKM 48.5), cortex adult (RPKM 36.1) and 2 other tissues See more
Orthologs
human all
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Genomic context

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See Gabra1 in Genome Data Viewer
Location:
11 A5; 11 24.97 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (42021766..42073893, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (42130939..42183066, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene basic transcription factor 3, pseudogene 7 Neighboring gene RIKEN cDNA A230004M16 gene Neighboring gene STARR-seq mESC enhancer starr_29241 Neighboring gene STARR-seq mESC enhancer starr_29242 Neighboring gene STARR-seq mESC enhancer starr_29243 Neighboring gene gamma-aminobutyric acid type A receptor, subunit gamma 2 Neighboring gene STARR-seq mESC enhancer starr_29244 Neighboring gene STARR-seq mESC enhancer starr_29245 Neighboring gene STARR-seq mESC enhancer starr_29247 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha 6 Neighboring gene STARR-seq mESC enhancer starr_29248 Neighboring gene predicted gene, 53697

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Adolescent-onset GABAA α1 silencing regulates reward-related decision making. Butkovich LM, et al. Eur J Neurosci, 2015 Aug. PMID 26096050, Free PMC Article
  2. Alpha 1 subunit-containing GABA type A receptors in forebrain contribute to the effect of inhaled anesthetics on conditioned fear. Sonner JM, et al. Mol Pharmacol, 2005 Jul. PMID 15833735
  3. Investigation of the abundance and subunit composition of GABAA receptor subtypes in the cerebellum of alpha1-subunit-deficient mice. Ogris W, et al. J Neurochem, 2006 Jan. PMID 16277610
  4. Compensatory alteration of inhibitory synaptic circuits in cerebellum and thalamus of gamma-aminobutyric acid type A receptor alpha1 subunit knockout mice. Kralic JE, et al. J Comp Neurol, 2006 Apr 1. PMID 16485284
  5. Loop F of the GABA(A) receptor alpha subunit governs GABA potency. Pálvölgyi A, et al. Neuropharmacology, 2018 Jan. PMID 29109059

See all (224) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Knockdown of SIK3 in the CA1 Region can Reduce Seizure Susceptibility in Mice by Inhibiting Decreases in GABAAR alpha1 Expression.
    Title: Knockdown of SIK3 in the CA1 Region can Reduce Seizure Susceptibility in Mice by Inhibiting Decreases in GABA(A)R α1 Expression.
  2. Pharmacological Analysis of GABAA Receptor and Sigma1R Chaperone Interaction: Research Report I-Investigation of the Anxiolytic, Anticonvulsant and Hypnotic Effects of Allosteric GABAA Receptors' Ligands.
    Title: Pharmacological Analysis of GABA(A) Receptor and Sigma1R Chaperone Interaction: Research Report I-Investigation of the Anxiolytic, Anticonvulsant and Hypnotic Effects of Allosteric GABA(A) Receptors' Ligands.
  3. GABAA Receptor-Mediated Sleep-Promoting Effect of Saaz-Saphir Hops Mixture Containing Xanthohumol and Humulone.
    Title: GABA(A) Receptor-Mediated Sleep-Promoting Effect of Saaz-Saphir Hops Mixture Containing Xanthohumol and Humulone.
  4. GABA-A receptor signaling in the anterior cingulate cortex modulates aggression and anxiety-related behaviors in socially isolated mice.
    Title: GABA-A receptor signaling in the anterior cingulate cortex modulates aggression and anxiety-related behaviors in socially isolated mice.
  5. Structural determinants and regulation of spontaneous activity in GABAA receptors.
    Title: Structural determinants and regulation of spontaneous activity in GABA(A) receptors.
  6. Selective loss of the GABAAalpha1 subunit from Purkinje cells is sufficient to induce a tremor phenotype.
    Title: Selective loss of the GABA(Aα1) subunit from Purkinje cells is sufficient to induce a tremor phenotype.
  7. Dynorphin and GABAA Receptor Signaling Contribute to Progesterone's Inhibition of the LH Surge in Female Mice.
    Title: Dynorphin and GABAA Receptor Signaling Contribute to Progesterone's Inhibition of the LH Surge in Female Mice.
  8. Identification of a Core Amino Acid Motif within the alpha Subunit of GABAARs that Promotes Inhibitory Synaptogenesis and Resilience to Seizures.
    Title: Identification of a Core Amino Acid Motif within the α Subunit of GABA(A)Rs that Promotes Inhibitory Synaptogenesis and Resilience to Seizures.
  9. This experiments show that loop F of the alpha-subunit governs the potency of GABA on alpha2 and alpha5-GABAA receptors in vitro as well as in vivo.
    Title: Loop F of the GABA(A) receptor alpha subunit governs GABA potency.
  10. This results of this study concluded that targeted deletion of Gabra1 causes moderate adaptations of GABAergic synapses in CA1 pyramidal cells
    Title: Differential role of GABA(A) receptors and neuroligin 2 for perisomatic GABAergic synapse formation in the hippocampus.
Submit: New GeneRIF Correction See all GeneRIFs (64)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

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 MGI

Function Evidence Code Pubs
contributes_to GABA receptor activity ISO
Inferred from Sequence Orthology
more info
  
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GABA-A receptor activity ISO
Inferred from Sequence Orthology
more info
  
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 
contributes_to GABA-gated chloride ion channel activity ISO
Inferred from Sequence Orthology
more info
  
enables GABA-gated chloride ion channel activity ISO
Inferred from Sequence Orthology
more info
  
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 diazepam binding ISO
Inferred from Sequence Orthology
more info
  
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential ISO
Inferred from Sequence Orthology
more info
  
enables organic cyclic compound binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential EXP
Inferred from Experiment
more info
 PubMed 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IDA
Inferred from Direct Assay
more info
 PubMed 
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to histamine ISO
Inferred from Sequence Orthology
more info
  
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid signaling pathway ISO
Inferred from Sequence Orthology
more info
  
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 inhibitory synapse assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
  
involved_in synaptic transmission, GABAergic IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synaptic transmission, GABAergic ISO
Inferred from Sequence Orthology
more info
  
involved_in synaptic transmission, GABAergic NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of GABA receptor complex ISO
Inferred from Sequence Orthology
more info
  
part_of GABA-A receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of GABA-A receptor complex ISO
Inferred from Sequence Orthology
more info
  
part_of GABA-A receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in GABA-ergic synapse EXP
Inferred from Experiment
more info
 PubMed 
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in GABA-ergic synapse ISO
Inferred from Sequence Orthology
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
  
located_in dendritic spine IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynapse IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in postsynaptic specialization membrane ISO
Inferred from Sequence Orthology
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
GABAA alpha 1
GABAAR alpha1
GABAAR subunit alpha-1
gamma-aminobutyric acid (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.

mRNA and Protein(s)

  1. NM_001359035.1 → NP_001345964.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL645751, AL645752, BE945884
    Consensus CDS
    CCDS24553.1
    UniProtKB/Swiss-Prot
    P18504, P62812
    UniProtKB/TrEMBL
    Q3URD4, Q544F7
    Related
    ENSMUSP00000146133.2, ENSMUST00000205546.2
    Conserved Domains (2) summary
    TIGR00860
    Location:7 → 441
    LIC; Cation transporter family protein
    cd19034
    Location:55 → 248
    LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

  2. NM_010250.5 → NP_034380.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

    See identical proteins and their annotated locations for NP_034380.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK034095, AK141596, BC137733, BE945884
    Consensus CDS
    CCDS24553.1
    UniProtKB/Swiss-Prot
    P18504, P62812
    UniProtKB/TrEMBL
    Q3URD4, Q544F7
    Related
    ENSMUSP00000020707.6, ENSMUST00000020707.12
    Conserved Domains (2) summary
    TIGR00860
    Location:7 → 441
    LIC; Cation transporter family protein
    cd19034
    Location:55 → 248
    LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    42021766..42073893 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017314259.1 → XP_017169748.1  gamma-aminobutyric acid receptor subunit alpha-1 isoform X2

    UniProtKB/Swiss-Prot
    P18504, P62812
    UniProtKB/TrEMBL
    Q3URD4, Q544F7
    Conserved Domains (2) summary
    TIGR00860
    Location:7 → 441
    LIC; Cation transporter family protein
    cd19034
    Location:55 → 248
    LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)

  2. XM_006532195.5 → XP_006532258.1  gamma-aminobutyric acid receptor subunit alpha-1 isoform X1

    UniProtKB/TrEMBL
    Q3URD4
    Conserved Domains (2) summary
    TIGR00860
    Location:105 → 539
    LIC; Cation transporter family protein
    cd19034
    Location:153 → 346
    LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P62812.1 GenPept UniProtKB/Swiss-Prot:P62812

Gene LinkOut

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