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GABRQ Gene

protein-coding   GIFtS: 59

GC0XP151477
gamma-aminobutyric acid (GABA) receptor, theta
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)
About This Section

Aliases
MGC129629 2
MGC129630 2
THETA 1, 2
Descriptions
GABA(A) receptor subunit theta 3
GABA-A receptor theta subunit 2
gamma-aminobutyric acid (GABA) receptor, theta 2
gamma-aminobutyric acid receptor, theta 1
External Ids
HGNC: 144541
Entrez Gene: 558792
UniProtKB: Q9UN883
Ensembl: ENSG000001474027
Search outside databases for aliases for GABRQ gene

Previous GC identifers: GC0XP146146 GC0XP148463 GC0XP149554 GC0XP150424

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

EntrezGene summary for GABRQ:
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the
fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A
receptor, theta subunit. It is mapped to chromosome Xq28 in a cluster including the genes encoding
the alpha 3 and epsilon subunits of the same receptor. This gene location is also the candidate
region of 2 different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and
X-linked mental retardation (MRX3). [provided by RefSeq]

UniProtKB/Swiss-Prot: GBRT_HUMAN, Q9UN88
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 GABRQ gene  

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

GABRQ 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 X         GeneLoc Exon Structure

GeneLoc location for GC0XP151477:     (about GC identifiers)

Start:
151,557,293 bp from pter
End:
151,576,655 bp from pter
Size:
19,363 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000023.9  NT_011726.13  
(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: GBRT_HUMAN, Q9UN88 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit theta precursor  
Size: 632 amino acids; 72022 Da
Subunit: Generally pentameric. This subunit coassembles with alpha-2, beta-1 and gamma-1
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane
protein. Cell membrane; Multi-pass membrane protein
Secondary accessions: Q32MB4 Q9NZK8

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_061028.1  

    ENSEMBL proteins: 
    ENSP00000276369 ENSP00000359329 ENSP00000331410 


    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 (GABRQ)
    Browse Abnova for Human Recombinant Proteins
                    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:0005887 integral to plasma membrane TAS10449790
    GO:0030054 cell junction IEA--
    GO:0045202 synapse IEA--
    GO:0045211 postsynaptic membrane IEA--
    About this table

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

    Assays for GABRQ: 
    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

    5/6 InterPro domains/families (see all 6 ):
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR008101 GABAAt_rcpt
     IPR006029 Neu_channel_TM


       GeneDecks  GABRQ for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9UN88

    ProtoNet protein and cluster: Q9UN88

    3 Blocks protein families:
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel
    IPB008101 Gamma-aminobutyric-acid A receptor theta subunit signature


    UniProtKB/Swiss-Prot: GBRT_HUMAN, Q9UN88
    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 (GABRQ)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GABRQ)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018558

                  Applied Biosystems Silencer® siRNAs for GABRQ

                  Sigma-Aldrich siRNA and siRNA Panels for GABRQ  
                         Sigma-Aldrich shRNA for GABRQ  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_018558
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_018558
                                     untagged cDNA clone in CMV expression vector: NM_018558 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_018558

    UniProtKB/Swiss-Prot: GBRT_HUMAN, Q9UN88
    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

    1 MGI mutant phenotype (inferred from 1 allele(MGI details for Gabrq):

    nervous system

    5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888 transmembrane receptor activity TAS10449790
    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--
    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 GABRQ
     GABA signaling in brain

       GeneDecks  GABRQ for the pathways selected above  
    About GeneDecksing

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

       GeneDecks  GABRQ for the pathways selected above  
    About GeneDecksing

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

       GeneDecks  GABRQ for the pathways selected above  
    About GeneDecksing

    5/32 Interacting proteins for GABRQ (ENSP000002763693) via UniProtKB, MINT, and/or STRING (see all 32 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCQENSP000002631253STRING (score=.926)
    CARD11ENSP000003476953STRING (score=.905)
    GSTT1ENSP000002489353STRING (score=.888)
    GABREENSP000003593533STRING (score=.826)
    GABRA3ENSP000003593373STRING (score=.82)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0007165 signal transduction TAS10449790
    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 GABRQ
    Browse Small Molecules at Sigma-Aldrich

    Compounds for GABRQ 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 (GABRQ)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (GABRQ)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018558

                  Sigma-Aldrich siRNA and siRNA Panels for GABRQ  
                         Sigma-Aldrich shRNA for GABRQ  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_018558  

    REFSEQ mRNAs for GABRQ gene: 

    NM_018558.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_018558  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_018558
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_018558
                                     untagged cDNA clone in CMV expression vector: NM_018558 

    Additional cDNA sequence: 

    AF144648.1 AF189259.1 BC109210.1 BC109211.1 U47334.1 

    1 DOTS entry:

    DT.92067225 

    5 AceView cDNA sequences:

    BU553845 AF189259 NM_018558 AF144648 BF934691 

    highest scoring ESTs for GABRQ:

    AF144648 AF189259 BF934691 BU553845 NM_018558 BC109210 BC109211 U47334 BG778981 BP250476 

    Unigene Cluster for GABRQ:

    Gamma-aminobutyric acid (GABA) receptor, theta
    Hs.283081  [show with all ESTs]
    Unigene Representative Sequence: NM_018558


    GeneLoc Exon Structure

    3 Ensembl transcripts including schematic representations:
    ENST00000276369  ENST00000370306  ENST00000333733  
    (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

    GABRQ expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for GABRQ

    1 / 2 / 3

    5 probe-sets matching GABRQ gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    47299_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 W52448 0.20 1.00 0.72 1

    238123_at2, 3 U133-B 1 1.00 1.00 -- -- W52448 0.20 1.00 0.72 1

    220886_at2, 3 U133-A 1 1.00 1.00 -- -- NM_018558 0.60 1.00 0.82 1

    238123_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    220886_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GCCAAGAGAA

    SOURCE GeneReport for Unigene cluster: Hs.283081
    (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 GABRQ gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    GABRQ1   -- gamma-aminobutyric acid (GABA) receptor, theta 82.33(n)
    72.54(a)
    492225  XM_549345.2  XP_549345.2 
    chimpanzee
    (Pan troglodytes)
    GABRQ1   -- gamma-aminobutyric acid (GABA) receptor, theta 97.36(n)
    96.2(a)
    736978  XM_001136669.1  XP_001136669.1 
    cow
    (Bos taurus)
    GABRQ1   -- gamma-aminobutyric acid (GABA) receptor, theta 78.95(n)
    68.42(a)
    527180  XM_605570.3  XP_605570.3 
    rat
    (Rattus norvegicus)
    Gabrq1   -- gamma-aminobutyric acid (GABA) receptor, theta 82.8(n)
    78.39(a)
    65187  NM_031733.1  NP_113921.1 
    mouse
    (Mus musculus)
    Gabrq1, 5 X5
    gamma-aminobutyric acid (GABA) A receptor, subunit more5
    gamma-aminobutyric acid (GABA-A) receptor, subunit more1
    82.08(n)1
    78.88(a)1
    572491  NM_020488.11  NP_065234.11 
     AF1892605  AK0388595  (see all 10)
    About this table        Species with no ortholog for GABRQ

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

    Paralogs for GABRQ gene
    GABRD2  GABRP2  

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


    10/70 NCBI SNPs in GABRQ are shown (see all 70 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 33)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs38106511,2
    A,C,F,H151571933(+) GTATTA/TTTCCT 1 I/F mis1 ese312Minor allele frequency- N:0.00EU EA WA NA 933
    rs45624911,2
    A,C,F,H151556092(+) GGCAGA/TGTCTG 1 -- ng514Minor allele frequency- T:0.07EU NA 225
    rs49960451,2
    H151557355(+) TGCTGC/ATCATC 1 I/L mis1 ese34Minor allele frequency- A:0.00EU EA WA 410
    rs59251981,2
    A,C,H151571965(+) GAAGCC/TCATGG 1 A/A syn1 ese34Minor allele frequency- T:0.00EU EA WA 418
    rs360802811,2
    F151570712(+) ATTTCC/TTGTAT 1 S/S syn11Minor allele frequency- T:0.05NA 76
    rs59251911,2
    A,C,F,H151560198(+) CTAGTC/ACTCAG 1 -- int14Minor allele frequency- A:0.21EU EA WA 418
    rs38106501,2
    A,C,F,H151569979(+) TAAACA/GGACGA 1 -- int18Minor allele frequency- N:0.00EU EA WA NA 634
    rs104822081,2
    A,C,F,H151561543(+) GCATAC/TGGGGG 1 -- int18Minor allele frequency- T:0.20EU EA WA 626
    rs59247531,2
    A,C,F,H151568664(+) gataaC/Tttatt 1 -- int112Minor allele frequency- T:0.36EU EA WA 912
    rs59251951,2
    A,C,F,H151562346(+) ACCACG/ATAACA 1 -- int111Minor allele frequency- A:0.21EU EA WA NA 889
    About this table

    HapMap Linkage Disequilibrium images for GABRQ (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: 300349

    Human Genome Epidemiology Navigator: GABRQ (3 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

    8 PubMed articles for GABRQ gene:
    (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: 55879 HGNC: 14454 AceView: GABRQ Ensembl:ENSG00000147402 euGenes: HUgn55879
    ECgene: GABRQ H-InvDB: GABRQ
    (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

      --
    (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 GABRQ:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for GABRQ-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for GABRQ Antibodies for GABRQ
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for GABRQ Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


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

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