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    Gabrg1 gamma-aminobutyric acid type A receptor subunit gamma 1 [ Mus musculus (house mouse) ]

    Gene ID: 14405, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Gabrg1provided by MGI
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit gamma 1provided by MGI
    Primary source
    MGI:MGI:103156
    See related
    Ensembl:ENSMUSG00000001260 AllianceGenome:MGI:103156
    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
    GabaA; GabaA/BZ
    Summary
    Predicted to enable GABA receptor binding activity and GABA-gated chloride ion channel activity. Predicted to contribute to GABA-A receptor activity; benzodiazepine receptor activity; and chloride channel activity. Acts upstream of or within chemical synaptic transmission. Predicted to be located in plasma membrane. Predicted to be part of GABA-A receptor complex. Predicted to be active in dendrite membrane and postsynapse. Is expressed in central nervous system and eye. Used to study trigeminal neuralgia. Orthologous to human GABRG1 (gamma-aminobutyric acid type A receptor subunit gamma1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in CNS E18 (RPKM 1.7), frontal lobe adult (RPKM 1.3) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gabrg1 in Genome Data Viewer
    Location:
    5 C3.1; 5 37.43 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (70906512..70999960, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (70751047..70842617, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_13341 Neighboring gene predicted gene, 23067 Neighboring gene STARR-seq mESC enhancer starr_13342 Neighboring gene STARR-seq mESC enhancer starr_13343 Neighboring gene STARR-seq mESC enhancer starr_13344 Neighboring gene predicted gene, 26072 Neighboring gene STARR-seq mESC enhancer starr_13345 Neighboring gene STARR-seq mESC enhancer starr_13346 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

    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
    • 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. The GABA(A) receptor gamma1-subunit in seizure prone (DBA/2) and resistant (C57BL/6) mice. Wang JB, et al. Brain Res Bull, 1998. PMID 9527017
    2. A single nucleotide polymorphism in GABAA receptor isoforms is potentially responsible for isoflurane sensitivity in mice. Wang X, et al. Genet Mol Res, 2016 Jun 10. PMID 27323147
    3. High-resolution BAC-based map of the central portion of mouse chromosome 5. Crabtree J, et al. Genome Res, 2001 Oct. PMID 11591652, Free PMC Article
    4. Activation of GABA(A) Receptors in Colon Epithelium Exacerbates Acute Colitis. Ma X, et al. Front Immunol, 2018. PMID 29867964, Free PMC Article
    5. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. Dong W, et al. iScience, 2020 Oct 23. PMID 33083721, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis of GABARAP-mediated GABAA receptor trafficking and functions on GABAergic synaptic transmission.
      Title: Structural basis of GABARAP-mediated GABA(A) receptor trafficking and functions on GABAergic synaptic transmission.
    2. Our data indicate that the GABAA Receptors activation within colon mucosa disrupts the intestinal barrier and increases the intestinal permeability which facilitates inflammatory reaction in colon.
      Title: Activation of GABA(A) Receptors in Colon Epithelium Exacerbates Acute Colitis.
    3. it is concluded that the anxiolytic-like activities of rubimetide and typical agonist peptides of the FPR2 were mediated successively by the PGD2-DP1 receptor, adenosine-A2A receptor, and GABA-GABAA receptor systems downstream of the FPR2.
      Title: Rubimetide, humanin, and MMK1 exert anxiolytic-like activities via the formyl peptide receptor 2 in mice followed by the successive activation of DP1, A2A, and GABAA receptors.
    4. A single nucleotide polymorphism (SNP) at the nucleotide position 462 (C/G) in the b1 sequence of the GABAA reseptor was found. This SNP was observed in 5 mice from the sensitive strain and in 36 mice from the resistant strain. The Fischer exact test was used to compare two strains of mice for SNP in the cDNA sequence of the b1 subunit
      Title: A single nucleotide polymorphism in GABAA receptor isoforms is potentially responsible for isoflurane sensitivity in mice.
    5. This study demonstrated that chronic GABAAalpha1 deficiency remodels cortical synapses and suggest that neuroplasticity within the healthy oPFC gates the influence of reward-related contextual stimuli.
      Title: GABAAα1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection.
    6. Hypnotic activity of melatonin may be mediated through picrotoxin site on GABAA receptor.
      Title: [The role of melatonin receptor and GABAA receptor in the sleeping time prolonged by melatonin in mice].
    7. deficits in GABAergic inhibition cause behavioral and endocrine abnormalities and selective antidepressant drug responsiveness indicative of anxious-depressive disorders such as melancholic depression.
      Title: gamma-Aminobutyric acid-type A receptor deficits cause hypothalamic-pituitary-adrenal axis hyperactivity and antidepressant drug sensitivity reminiscent of melancholic forms of depression.
    8. A mutated axJ gene locus, encoding the ubiquitin-specific protease 14 (Usp14), negatively influences GABAA receptor turnover.
      Title: The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice.
    9. Prostaglandin E2 attenuates preoptic expression of GABAA receptors via EP3 receptors
      Title: Prostaglandin E2 attenuates preoptic expression of GABAA receptors via EP3 receptors.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC107399

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GABA receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GABA receptor binding 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GABA-A receptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GABA-gated chloride ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    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 chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables extracellular ligand-gated monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within chemical synaptic transmission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gamma-aminobutyric acid signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inhibitory synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    Component Evidence Code Pubs
    part_of GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in dendrite membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in postsynapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of receptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    gamma-aminobutyric acid receptor subunit gamma-1
    Names
    GABA(A) receptor subunit gamma-1
    GABAAR subunit gamma-1
    gamma-aminobutyric acid (GABA) A receptor, subunit gamma 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_001417485.1 → NP_001404414.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC068252
      UniProtKB/TrEMBL
      Q8CCT6
      Related
      ENSMUST00000197068.5

    2. NM_001417486.1 → NP_001404415.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC068252, AC092716
      UniProtKB/TrEMBL
      Q8CCT6

    3. NM_001417487.1 → NP_001404416.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC068252, AC092716
      UniProtKB/TrEMBL
      A0A0G2JDP9
      Related
      ENSMUSP00000142454.2, ENSMUST00000199705.2

    4. NM_001417488.1 → NP_001404417.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC068252, AC092716

    5. NM_010252.5 → NP_034382.2  gamma-aminobutyric acid receptor subunit gamma-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_034382.2

      Status: VALIDATED

      Source sequence(s)
      AC068252, AC092716
      Consensus CDS
      CCDS19326.1
      UniProtKB/Swiss-Prot
      Q8BHM6, Q9R0Y8
      UniProtKB/TrEMBL
      Q8CCT6
      Related
      ENSMUSP00000031119.2, ENSMUST00000031119.6
      Conserved Domains (3) summary
      TIGR00860
      Location:66 → 462
      LIC; Cation transporter family protein
      pfam02931
      Location:65 → 270
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:277 → 459
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RNA

    1. NR_184456.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC068252, AC092716

    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
      70906512..70999960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240701.4 → XP_011239003.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform X2

      UniProtKB/TrEMBL
      Q8CCT6
      Conserved Domains (2) summary
      cd19000
      Location:88 → 269
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma
      cd19054
      Location:272 → 357
      LGIC_TM_GABAAR_gamma; transmembrane domain of gamma subunits of type-A gamma-aminobutyric acid receptor (GABAAR)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R0Y8.2 GenPept UniProtKB/Swiss-Prot:Q9R0Y8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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