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GABRG1 Gene

protein-coding   GIFtS: 57

GC04M045732
gamma-aminobutyric acid (GABA) A receptor, gamma 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DKFZp686H2042 2
MGC33838 2
Descriptions
GABA(A) receptor subunit gamma-1 3
gamma-1 polypeptide 2
gamma-aminobutyric acid (GABA) A receptor, gamma 1 2
gamma-aminobutyric acid A receptor, gamma 1 2
External Ids
HGNC: 40861
Entrez Gene: 25652
UniProtKB: Q8N1C33
Ensembl: ENSG000001632857
Search outside databases for aliases for GABRG1 gene

Previous GC identifers: GC04U990020 GC04M045892 GC04M045957 GC04M045953 GC04M045878

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for GABRG1:
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]

UniProtKB/Swiss-Prot: GBRG1_HUMAN, Q8N1C3
Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal
inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the GABRG1 gene  

Entrez Gene cytogenetic band: 4p12   Ensembl cytogenetic band:  4p12   HGNC cytogenetic band: 4p12

GABRG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M045732:     (about GC identifiers)

Start:
45,732,543 bp from pter
End:
45,820,839 bp from pter
Size:
88,297 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000004.10  NT_006238.10  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: GBRG1_HUMAN, Q8N1C3 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit gamma-1 precursor  
Size: 465 amino acids; 53595 Da
Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma,
delta, and rho
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane
protein. Cell membrane; Multi-pass membrane protein
Miscellaneous: This subunit carries the benzodiazepine binding site
Secondary accessions: Q5H9T8

Post-translational modifications:

  • May be palmitoylated (By similarity)1


  • REFSEQ proteins: NP_775807.2  

    ENSEMBL proteins: 
    ENSP00000295452 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (GABA A Receptor gamma 1)
    Human Recombinant Proteins from Abnova (GABRG1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886 plasma membrane IEA--
    GO:0016021 integral to membrane IEA--
    GO:0030054 cell junction IEA--
    GO:0045202 synapse IEA--
    GO:0045211 postsynaptic membrane IEA--
    About this table

    Antibodies for GABRG1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (GABA A Receptor gamma 1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for GABRG1

    Assays for GABRG1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/7 InterPro domains/families (see all 7 ):
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR005437 GABBAg_rcpt
     IPR005438 GABBAg1_rcpt


       GeneDecks  GABRG1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q8N1C3

    ProtoNet protein and cluster: Q8N1C3

    4 Blocks protein families:
    IPB005437 Gamma-aminobutyric-acid A receptor gamma subunit signature
    IPB005438 Gamma-aminobutyric-acid A receptor gamma 1 subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRG1_HUMAN, Q8N1C3
    Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (GABRG1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GABRG1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_173536

                  Applied Biosystems Silencer® siRNAs for GABRG1

                  Sigma-Aldrich siRNA and siRNA Panels for GABRG1  
                         Browse shRNA at Sigma-Aldrich  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for GABRG1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_173536
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_173536
                                     untagged cDNA clone in CMV expression vector: NM_173536 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_173536

    UniProtKB/Swiss-Prot: GBRG1_HUMAN, Q8N1C3
    Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal
    inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel

    Genatlas biochemistry entry for GABRG1:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,gamma 1,subunit,component of a pentameric
    receptor mediating inhibitory neurotransmission

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890 GABA-A receptor activity IEA--
    GO:0005216 ion channel activity IEA--
    GO:0005230 extracellular ligand-gated ion channel activity IEA--
    GO:0005254 chloride channel activity IEA--
    GO:0030594 neurotransmitter receptor activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for GABRG1
     GABA signaling in brain

       GeneDecks  GABRG1 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  GABRG1  (Your Favorite Gene powered by Ingenuity) 
     GABA Receptor Signaling

       GeneDecks  GABRG1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for GABRG1):
     hsa04080 Neuroactive ligand-receptor interaction

       GeneDecks  GABRG1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  GABRG1 


    5/18 Interacting proteins for GABRG1 (ENSP000002954523) via UniProtKB, MINT, and/or STRING (see all 18 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABRB2ENSP000002745473STRING (score=.826)
    GABRR2ENSP000002296063STRING (score=.824)
    GABRB3ENSP000003724793STRING (score=.822)
    GABRR1ENSP000003584633STRING (score=.822)
    GABRPENSP000002652943STRING (score=.819)
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0006821 chloride transport IEA--
    GO:0007214 gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268 synaptic transmission IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for GABRG1
    Sigma-Aldrich Small Molecules for GABRG1:
    Inhibitor

    Compounds for GABRG1 available from Tocris Bioscience
    CompoundAction CAS number
    MuscimolPotent GABAA agonist[2763-96-4]
    (+)-BicucullinePotent GABAA antagonist[485-49-4]
    IndiplonSubtype-selective GABAA receptor positive allosteric modulator[325715-02-4]
    L-655,708Selective for alpha5-containing GABAA receptors[130477-52-0]
    SR 95531 hydrobromideSelective, competitive GABAA receptor antagonist[104104-50-9]
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (GABRG1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GABRG1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_173536

                  Sigma-Aldrich siRNA and siRNA Panels for GABRG1  
                         Browse shRNA at Sigma-Aldrich  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_173536  

    REFSEQ mRNAs for GABRG1 gene: 

    NM_173536.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_173536  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_173536
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_173536
                                     untagged cDNA clone in CMV expression vector: NM_173536 

    Additional cDNA sequence: 

    AK122845.1 AK124800.1 AK289806.1 AK299884.1 BC031087.1 BX648937.1 CR933628.1 

    1 DOTS entry:

    DT.75165789 

    18 AceView cDNA sequences:

    F09193 NM_173536 AK124800 BQ188415 CK299610 AK122845 BI600401 CK005243 
    BX648937 BC031087 BX420702 F11531 N92667 AL119089 BX410065 AL119176 
    T23444 N99613 

    highest scoring ESTs for GABRG1:

    AK122845 BC031087 BI600401 BX648937 N92667 AK124800 AL119089 AL119176 BQ188415 BX420702 

    Unigene Cluster for GABRG1:

    Gamma-aminobutyric acid (GABA) A receptor, gamma 1
    Hs.375051  [show with all ESTs]
    Unigene Representative Sequence: BX648937


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000295452  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    GABRG1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for GABRG1

    1 / 2 / 3

    4 probe-sets matching GABRG1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    64999_at2, 3 U95-C 1 1.00 1.00 1.00 1.00 N92667 0.80 1.00 0.91 1

    241805_at2, 3 U133-B 1 1.00 1.00 -- -- N92667 0.80 1.00 0.91 1

    241805_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1552943_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  GABRG1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.375051
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for GABRG1 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    GABRG11   -- gamma-aminobutyric acid (GABA) A receptor, gamma 1 91.95(n)
    96.12(a)
    482130  XM_539249.2  XP_539249.2 
    chimpanzee
    (Pan troglodytes)
    GABRG11   -- gamma-aminobutyric acid (GABA) A receptor, gamma 1 99.78(n)
    100(a)
    471393  XM_001154795.1  XP_001154795.1 
    cow
    (Bos taurus)
    GABRG11   -- gamma-aminobutyric acid (GABA) A receptor, gamma 1 93.03(n)
    94.83(a)
    615885  XM_867808.2  XP_872901.2 
    rat
    (Rattus norvegicus)
    Gabrg11   -- gamma-aminobutyric acid (GABA) A receptor, gamma 1 87.07(n)
    95.47(a)
    140674  NM_080586.1  NP_542153.1 
    mouse
    (Mus musculus)
    Gabrg11, 5 5 (40.00 cM)5
    gamma-aminobutyric acid (GABA) A receptor, subunit more5
    gamma-aminobutyric acid (GABA-A) receptor, subunit more1
    88.07(n)1
    95.47(a)1
    144051  NM_010252.41  NP_034382.21 
     AC0682525  AF0903755  (see all 18)
    About this table        Species with no ortholog for GABRG1

    ENSEMBL Gene Tree for GABRG1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for GABRG1 gene
    GABRG22  GABRE2  GABRG32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/514 NCBI SNPs in GABRG1 are shown (see all 514 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 177)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs9041541,2
    A,C,F,H,O45821128(-) AACGCT/GGGAGA 1 -- ng3111Minor allele frequency- G:0.04NA EA EU WA 1088
    rs14975681,2
    A,C,F,H,O45735515(+) CACACA/GTTTAA 1 -- ut31 ese38Minor allele frequency- G:0.44MN EU EA WA NA 736
    rs64474931,2
    A,C,F,H45737702(+) TGAAGC/TACAAA 1 -- ut31 ese37Minor allele frequency- T:0.48NA EU EA WA 520
    rs123742991,2
    A,C,F,H45733502(+) GCTTAT/AACGCC 1 -- ut31 ese37Minor allele frequency- A:0.50NA EU EA WA 548
    --
    rs76838821,2
    A,C,F,H45736842(+) CACGTG/CAGTAA 1 -- ut31 ese34Minor allele frequency- C:0.46EU EA WA 412
    rs76541651,2
    A,C,F,H45821824(+) ACGCCT/CTCCCA 1 -- ng318Minor allele frequency- C:0.48EU EA WA NA 780
    rs76838761,2
    A,C,F,H45736840(+) ACCACG/ATGAGT 1 -- ut31 ese34Minor allele frequency- A:0.46EU EA WA 418
    rs14975671,2
    C,F,H45735495(+) TGTACA/GCCATT 1 -- ut31 ese37Minor allele frequency- G:0.50NA EA EU WA 672
    rs76668441,2
    C,F,H45734475(+) TCATTC/TGTTAT 1 -- ut313Minor allele frequency- T:0.37EU EA 266
    rs14975651,2
    C,F,O45735124(+) ATCCTT/GGTCAC 1 -- ut31 ese37Minor allele frequency- G:0.50NA EA 504
    About this table

    HapMap Linkage Disequilibrium images for GABRG1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 137166

    Genetic Association Database: GABRG1
    Human Genome Epidemiology Navigator: GABRG1 (6 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/16 PubMed articles for GABRG1 gene (see all 16 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 2565 HGNC: 4086 AceView: GABRG1 Ensembl:ENSG00000163285 euGenes: HUgn2565
    ECgene: GABRG1 H-InvDB: GABRG1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    Protein Spotlighthttp://www.expasy.org/spotlight/back_issues/sptlt056.shtml
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for GABRG1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Predesigned and custom siRNAs for GABRG1 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Browse shRNAs at Sigma-Aldrich Small molecules for GABRG1
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant Proteins
    (GABA A Receptor gamma 1)
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     Search OriGene for GABRG1
     Tocris compounds for GABRG1




     Drugs for GABRG1
     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for GABRG1

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