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    GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 [ Homo sapiens (human) ]

    Gene ID: 2565, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GABRG1provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit gamma1provided by HGNC
    Primary source
    HGNC:HGNC:4086
    See related
    Ensembl:ENSG00000163285 MIM:137166; AllianceGenome:HGNC:4086
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward brain (RPKM 11.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See GABRG1 in Genome Data Viewer
    Location:
    4p12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (46035769..46124054, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (46004706..46090897, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (46037786..46126071, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 931, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:45986993-45987530 Neighboring gene MPRA-validated peak5030 silencer Neighboring gene RN7SK pseudogene 199 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha2 Neighboring gene Sharpr-MPRA regulatory region 442 Neighboring gene RNA, U6 small nuclear 412, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Voluntary intravenous self-administration of alcohol detects an interaction between GABAergic manipulation and GABRG1 polymorphism genotype: a pilot study. Plawecki MH, et al. Alcohol Clin Exp Res, 2013 Jan. PMID 22817768, Free PMC Article
    2. Genetic association of recovery from eating disorders: the role of GABA receptor SNPs. Bloss CS, et al. Neuropsychopharmacology, 2011 Oct. PMID 21750581, Free PMC Article
    3. Associations among GABRG1, level of response to alcohol, and drinking behaviors. Ray LA, et al. Alcohol Clin Exp Res, 2009 Aug. PMID 19426171, Free PMC Article
    4. Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome. Wilcox AS, et al. Proc Natl Acad Sci U S A, 1992 Jul 1. PMID 1321425, Free PMC Article
    5. Markers in the 5'-region of GABRG1 associate to alcohol dependence and are in linkage disequilibrium with markers in the adjacent GABRA2 gene. Covault J, et al. Neuropsychopharmacology, 2008 Mar. PMID 17507911, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Steady-state activation of the high-affinity isoform of the alpha4beta2delta GABAA receptor.
      Title: Steady-state activation of the high-affinity isoform of the α4β2δ GABA(A) receptor.
    2. The strongest association for alcohol use disorder (rs3756007) was located in GABRA2, the strongest association for antisocial behavior (rs11941860) was located in GABRG1, and the interaction term yielded top associations in GABRA2 (rs2119183) and the intergenic region between GABRA2 and GABRG1 (rs536599).
      Title: Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior.
    3. rs1497577 not significantly associated with adaptation to subjective responses to alcohol
      Title: Adaptation of Subjective Responses to Alcohol is Affected by an Interaction of GABRA2 Genotype and Recent Drinking.
    4. Switching the intracellular domains of the gamma2 and gamma1 subunits substantiated this inference. Because this region determines post-synaptic localization, we hypothesize that GABAARs containing gamma1 and gamma2 use different mechanisms for synaptic clustering.
      Title: GABAA receptor α and γ subunits shape synaptic currents via different mechanisms.
    5. A significant GABRG1 genotype influences self-administration of alcohol and GABAergic manipulation.
      Title: Voluntary intravenous self-administration of alcohol detects an interaction between GABAergic manipulation and GABRG1 polymorphism genotype: a pilot study.
    6. we genotyped 13 single nucleotide polymorphisms spanning GABRG1 and GABRA2 in African Americans with alcohol dependence
      Title: GABRG1 and GABRA2 variation associated with alcohol dependence in African Americans.
    7. An intronic single nucleotide polymorphism (SNP) (rs17536211) in GABRG1 shows the strongest statistical evidence of association of recovery from eating disorders.
      Title: Genetic association of recovery from eating disorders: the role of GABA receptor SNPs.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. A single nucleotide polymorphism of the GABRG1 gene (rs1497571) is associated with level of response to alcohol and drinking patterns.
      Title: Associations among GABRG1, level of response to alcohol, and drinking behaviors.
    10. results of the present study suggest that hippocampal neurons expressing GABAAgamma receptor subunits resist the progression of neurofibrillary degeneration in Alzheimer disease hippocampus
      Title: An immunohistochemical study of GABA A receptor gamma subunits in Alzheimer's disease hippocampus: relationship to neurofibrillary tangle progression.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33838, DKFZp686H2042

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GABA receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to GABA-A receptor activity IBA
    Inferred from Biological aspect of Ancestor
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gamma-aminobutyric acid signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    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 IDA
    Inferred from Direct Assay
    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
    		  

    General protein information

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    Preferred Names
    gamma-aminobutyric acid receptor subunit gamma-1
    Names
    GABA(A) receptor subunit gamma-1
    GABA(A) receptor, gamma
    GABAAR subunit gamma-1
    gamma-1 polypeptide
    gamma-aminobutyric acid (GABA) A receptor, gamma 1
    gamma-aminobutyric acid type A receptor gamma1 subunit

    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.

    Genomic

    1. NG_046964.1 RefSeqGene

      Range
      5012..93297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173536.4 → NP_775807.2  gamma-aminobutyric acid receptor subunit gamma-1 precursor

      See identical proteins and their annotated locations for NP_775807.2

      Status: REVIEWED

      Source sequence(s)
      AC095058, AK122845
      Consensus CDS
      CCDS3470.1
      UniProtKB/Swiss-Prot
      Q5H9T8, Q8N1C3
      UniProtKB/TrEMBL
      A8K191
      Related
      ENSP00000295452.4, ENST00000295452.5
      Conserved Domains (2) summary
      TIGR00860
      Location:66 → 462
      LIC; Cation transporter family protein
      cd19000
      Location:88 → 269
      LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      46035769..46124054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007990.2 → XP_016863479.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      46004706..46090897 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349573.1 → XP_054205548.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1C3.2 GenPept UniProtKB/Swiss-Prot:Q8N1C3

    Gene LinkOut

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

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