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

    Gene ID: 14394, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 48.5), cortex adult (RPKM 36.1) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001359035.1NP_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:7441
      LIC; Cation transporter family protein
      cd19034
      Location:55248
      LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)
    2. NM_010250.5NP_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:7441
      LIC; Cation transporter family protein
      cd19034
      Location:55248
      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_017314259.1XP_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:7441
      LIC; Cation transporter family protein
      cd19034
      Location:55248
      LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)
    2. XM_006532195.5XP_006532258.1  gamma-aminobutyric acid receptor subunit alpha-1 isoform X1

      UniProtKB/TrEMBL
      Q3URD4
      Conserved Domains (2) summary
      TIGR00860
      Location:105539
      LIC; Cation transporter family protein
      cd19034
      Location:153346
      LGIC_ECD_GABAAR_A1; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-1 (GABAAR-A1 or GABRA1)