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    Gabrb1 gamma-aminobutyric acid type A receptor subunit beta 1 [ Mus musculus (house mouse) ]

    Gene ID: 14400, updated on 9-Dec-2024

    Summary

    Official Symbol
    Gabrb1provided by MGI
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit beta 1provided by MGI
    Primary source
    MGI:MGI:95619
    See related
    Ensembl:ENSMUSG00000029212 AllianceGenome:MGI:95619
    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
    Gabrb-1; B230208N19Rik
    Summary
    Enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential. Predicted to be involved in several processes, including cellular response to histamine; chloride transmembrane transport; and gamma-aminobutyric acid signaling pathway. Is active in GABA-ergic synapse and Schaffer collateral - CA1 synapse. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in autistic disorder and developmental and epileptic encephalopathy 45. Orthologous to human GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cortex adult (RPKM 5.1), frontal lobe adult (RPKM 4.7) and 5 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Gabrb1 in Genome Data Viewer
    Location:
    5 C3.2; 5 38.18 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (71815264..72306915)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (71657921..72149572)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha 2 Neighboring gene STARR-seq mESC enhancer starr_13347 Neighboring gene STARR-seq mESC enhancer starr_13349 Neighboring gene STARR-seq mESC enhancer starr_13350 Neighboring gene STARR-seq mESC enhancer starr_13351 Neighboring gene cytochrome c oxidase subunit 7B2 Neighboring gene STARR-seq mESC enhancer starr_13352 Neighboring gene STARR-seq mESC enhancer starr_13353 Neighboring gene STARR-seq mESC enhancer starr_13354 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha 4 Neighboring gene predicted gene, 38562 Neighboring gene STARR-seq mESC enhancer starr_13355 Neighboring gene ribosomal protein L7A pseudogene Neighboring gene STARR-seq mESC enhancer starr_13358 Neighboring gene 60S ribosomal protein L5 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr5:72551776-72552076 Neighboring gene STARR-positive B cell enhancer mm9_chr5:72559343-72559644 Neighboring gene STARR-positive B cell enhancer ABC_E670 Neighboring gene STARR-seq mESC enhancer starr_13361 Neighboring gene STARR-seq mESC enhancer starr_13362 Neighboring gene STARR-seq mESC enhancer starr_13363 Neighboring gene STARR-positive B cell enhancer ABC_E10323 Neighboring gene COMM domain containing 8 Neighboring gene STARR-positive B cell enhancer ABC_E4761 Neighboring gene ATPase, class V, type 10D

    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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential EXP
    Inferred from Experiment
    more info
    PubMed 
    enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables GABA receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GABA receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables 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
     
    enables GABA-gated chloride ion channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables GABA-gated chloride ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    contributes_to chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ligand-gated monoatomic ion channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ligand-gated monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential ISO
    Inferred from Sequence Orthology
    more info
     
    enables monoatomic anion channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to histamine ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to histamine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in central nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in gamma-aminobutyric acid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in monoatomic ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in monoatomic ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ovulation cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to progesterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    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
     
    is_active_in Schaffer collateral - CA1 synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    is_active_in Schaffer collateral - CA1 synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Schaffer collateral - CA1 synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in postsynaptic specialization membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in presynaptic active zone membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in presynaptic active zone membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit beta-1
    Names
    GABA(A) receptor subunit beta-1
    GABAAR subunit beta-1
    gamma-aminobutyric acid (GABA) A receptor, subunit beta 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_001370968.1NP_001357897.1  gamma-aminobutyric acid receptor subunit beta-1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC101688, AC114826, AC122915, AC163437
      Conserved Domains (1) summary
      TIGR00860
      Location:6439
      LIC; Cation transporter family protein
    2. NM_008069.5NP_032095.1  gamma-aminobutyric acid receptor subunit beta-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_032095.1

      Status: VALIDATED

      Source sequence(s)
      AC101688, AC114826, AC122915
      Consensus CDS
      CCDS19329.1
      UniProtKB/Swiss-Prot
      P50571
      UniProtKB/TrEMBL
      Q53WT3
      Related
      ENSMUSP00000031122.8, ENSMUST00000031122.9
      Conserved Domains (1) summary
      TIGR00860
      Location:9472
      LIC; Cation transporter family protein

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      71815264..72306915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)