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

    Gene ID: 57249, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Gabrqprovided by MGI
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit thetaprovided by MGI
    Primary source
    MGI:MGI:1888498
    See related
    Ensembl:ENSMUSG00000031344 AllianceGenome:MGI:1888498
    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
    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 act upstream of or within chloride transport and gamma-aminobutyric acid signaling pathway. Predicted to be located in postsynaptic 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 brain; eye; genitourinary system; immune system; and liver and biliary system. Orthologous to human GABRQ (gamma-aminobutyric acid type A receptor subunit theta). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in spleen adult (RPKM 1.4), CNS E18 (RPKM 1.1) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gabrq in Genome Data Viewer
    Location:
    X A7.3; X 37.29 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (71868769..71886213)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (72825163..72842607)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha 3 Neighboring gene STARR-seq mESC enhancer starr_47337 Neighboring gene predicted gene, 23461 Neighboring gene STARR-seq mESC enhancer starr_47338 Neighboring gene predicted gene, 57671 Neighboring gene STARR-seq mESC enhancer starr_47339 Neighboring gene MAGE family member A9, pseudogene Neighboring gene centrin 2

    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. GABA stimulates human hepatocellular carcinoma growth through overexpressed GABAA receptor theta subunit. Li YH, et al. World J Gastroenterol, 2012 Jun 7. PMID 22690081, Free PMC Article
    2. GABA(A) receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus. Sinkkonen ST, et al. J Neurosci, 2000 May 15. PMID 10804200, Free PMC Article
    3. 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
    4. Tlx1/3 and Ptf1a control the expression of distinct sets of transmitter and peptide receptor genes in the developing dorsal spinal cord. Guo Z, et al. J Neurosci, 2012 Jun 20. PMID 22723691, Free PMC Article
    5. Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins. Ghai R, et al. Proc Natl Acad Sci U S A, 2013 Feb 19. PMID 23382219, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GABRQ plays important roles in hepatocellular carcinoma development and progression
      Title: GABA stimulates human hepatocellular carcinoma growth through overexpressed GABAA receptor theta subunit.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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
    		 PubMed 
    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
    		  
    Process Evidence Code Pubs
    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
    		  
    acts_upstream_of_or_within chloride transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 

    General protein information

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

    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_001290435.1 → NP_001277364.1  gamma-aminobutyric acid receptor subunit theta isoform a precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (a).
      Source sequence(s)
      AK038859, AK164837, AL671908
      Consensus CDS
      CCDS72390.1
      UniProtKB/TrEMBL
      B1AUQ5
      Related
      ENSMUSP00000110200.2, ENSMUST00000114553.8
      Conserved Domains (2) summary
      pfam02931
      Location:60 → 264
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:271 → 373
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    2. NM_020488.2 → NP_065234.1  gamma-aminobutyric acid receptor subunit theta isoform b precursor

      See identical proteins and their annotated locations for NP_065234.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is longer than isoform a.
      Source sequence(s)
      AF189260, AL671908
      Consensus CDS
      CCDS30188.1
      UniProtKB/Swiss-Prot
      Q9JLF1
      UniProtKB/TrEMBL
      Q0VEX8
      Related
      ENSMUSP00000033711.6, ENSMUST00000033711.6
      Conserved Domains (4) summary
      cd19003
      Location:82 → 263
      LGIC_ECD_GABAAR_theta; extracellular domain of gamma-aminobutyric acid receptor subunit theta (GABRQ)
      cd03559
      Location:612 → 633
      LGIC_TM; TM4 helix [structural motif]
      cd19056
      Location:266 → 365
      LGIC_TM_GABAAR_theta; transmembrane domain of theta subunits of type-A gamma-aminobutyric acid receptor (GABAAR)
      cl38911
      Location:604 → 636
      LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      71868769..71886213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017318583.1 → XP_017174072.1  gamma-aminobutyric acid receptor subunit theta isoform X2

      Conserved Domains (5) summary
      cd03558
      Location:183 → 197
      LGIC_ECD; Cys-loop [structural motif]
      cd03559
      Location:564 → 588
      LGIC_TM; TM4 helix [structural motif]
      cd19056
      Location:221 → 320
      LGIC_TM_GABAAR_theta; transmembrane domain of theta subunits of type-A gamma-aminobutyric acid receptor (GABAAR)
      cl28912
      Location:82 → 218
      LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))
      cl38911
      Location:559 → 591
      LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels

    2. XM_006528173.1 → XP_006528236.1  gamma-aminobutyric acid receptor subunit theta isoform X1

      See identical proteins and their annotated locations for XP_006528236.1

      UniProtKB/Swiss-Prot
      Q9JLF1
      UniProtKB/TrEMBL
      Q0VEX8
      Conserved Domains (4) summary
      cd19003
      Location:82 → 263
      LGIC_ECD_GABAAR_theta; extracellular domain of gamma-aminobutyric acid receptor subunit theta (GABRQ)
      cd03559
      Location:612 → 633
      LGIC_TM; TM4 helix [structural motif]
      cd19056
      Location:266 → 365
      LGIC_TM_GABAAR_theta; transmembrane domain of theta subunits of type-A gamma-aminobutyric acid receptor (GABAAR)
      cl38911
      Location:604 → 636
      LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JLF1.1 GenPept UniProtKB/Swiss-Prot:Q9JLF1

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