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

    Gene ID: 216643, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Gabrpprovided by MGI
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit piprovided by MGI
    Primary source
    MGI:MGI:2387597
    See related
    Ensembl:ENSMUSG00000020159 AllianceGenome:MGI:2387597
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable GABA-A receptor activity and GABA-gated chloride ion channel activity. Predicted to contribute to chloride channel activity. Predicted to be involved in chemical synaptic transmission; chloride transmembrane transport; and regulation of membrane potential. Predicted to be located in apical plasma membrane. Predicted to be part of GABA-A receptor complex and transmembrane transporter complex. Predicted to be active in neuron projection; plasma membrane; and synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; liver and biliary system; and skin. Orthologous to human GABRP (gamma-aminobutyric acid type A receptor subunit pi). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lung adult (RPKM 15.8), limb E14.5 (RPKM 4.9) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gabrp in Genome Data Viewer
    Location:
    11 A4; 11 19.21 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (33500781..33528978, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (33550781..33578978, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene RAN binding protein 17 Neighboring gene high mobility group box 2 pseudogene Neighboring gene CRISPRi-validated Ranbp17 enhancer cluster Neighboring gene STARR-seq mESC enhancer starr_29136 Neighboring gene predicted gene, 36005 Neighboring gene RIKEN cDNA D130052B06 gene Neighboring gene STARR-seq mESC enhancer starr_29137 Neighboring gene predicted gene 12119 Neighboring gene Kv channel-interacting protein 1

    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. Expression of GABAρ receptors in the neostriatum: localization in aspiny, medium spiny neurons and GFAP-positive cells. Rosas-Arellano A, et al. J Neurochem, 2012 Sep. PMID 22168837
    2. Histone H2AX-dependent GABA(A) receptor regulation of stem cell proliferation. Andäng M, et al. Nature, 2008 Jan 24. PMID 18185516
    3. Systems biology of facial development: contributions of ectoderm and mesenchyme. Hooper JE, et al. Dev Biol, 2017 Jun 1. PMID 28363736, Free PMC Article
    4. Fine mapping of a sedative-hypnotic drug withdrawal locus on mouse chromosome 11. Hood HM, et al. Genes Brain Behav, 2006 Feb. PMID 16436183
    5. Early growth response 1 (Egr-1) directly regulates GABAA receptor α2, α4, and θ subunits in the hippocampus. Mo J, et al. J Neurochem, 2015 May. PMID 25708312

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study demonistrated that GABArho receptors expression in in aspiny, medium spiny neurons and GFAP-positive cells in the neostriatum.
      Title: Expression of GABAρ receptors in the neostriatum: localization in aspiny, medium spiny neurons and GFAP-positive cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1) 

    General gene information

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    Homology

    Clone Names

    • MGC38123

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to GABA-A receptor activity ISO
    Inferred from Sequence Orthology
    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 neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    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 regulation of membrane potential 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
    		  
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transmembrane transporter complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    gamma-aminobutyric acid receptor subunit pi
    Names
    GABA(A) receptor subunit pi
    GABAAR subunit pi
    gamma-aminobutyric acid (GABA) A receptor, pi

    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_146017.3 → NP_666129.1  gamma-aminobutyric acid receptor subunit pi precursor

      See identical proteins and their annotated locations for NP_666129.1

      Status: PROVISIONAL

      Source sequence(s)
      AL669814
      Consensus CDS
      CCDS24535.1
      UniProtKB/Swiss-Prot
      Q3TUT6, Q8QZW7
      UniProtKB/TrEMBL
      Q8K367
      Related
      ENSMUSP00000020366.2, ENSMUST00000020366.8
      Conserved Domains (3) summary
      TIGR00860
      Location:43 → 437
      LIC; Cation transporter family protein
      pfam02931
      Location:41 → 242
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:249 → 434
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    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
      33500781..33528978 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514666.4 → XP_006514729.1  gamma-aminobutyric acid receptor subunit pi isoform X1

      UniProtKB/TrEMBL
      Q8K367
      Conserved Domains (3) summary
      TIGR00860
      Location:1 → 358
      LIC; Cation transporter family protein
      cd03558
      Location:80 → 95
      LGIC_ECD; Cys-loop [structural motif]
      cl28912
      Location:1 → 162
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8QZW7.1 GenPept UniProtKB/Swiss-Prot:Q8QZW7

    Gene LinkOut

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

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