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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GABRG1 Gene

protein-coding   GIFtS: 60
GCID: GC04M045953

Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Gamma 11 2     GABA(A) Receptor, Gamma2
GABA(A) Receptor Subunit Gamma-12 3     Gamma-1 Polypeptide2
GABA(A) Receptor1     Gamma-Aminobutyric Acid Receptor Subunit Gamma-12
gamma1     

External Ids:    HGNC: 40861   Entrez Gene: 25652   Ensembl: ENSG000001632857   OMIM: 1371665   UniProtKB: Q8N1C33   

Export aliases for GABRG1 gene to outside databases

Previous GC identifers: GC04U990020 GC04M045892 GC04M045957 GC04M045878 GC04M045732 GC04M045360


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

Entrez Gene summary for GABRG1 Gene:
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)

GeneCards Summary for GABRG1 Gene: 
GABRG1 (gamma-aminobutyric acid (GABA) A receptor, gamma 1) is a protein-coding gene. Diseases associated with GABRG1 include wolfram syndrome, and schizoaffective disorder, and among its related super-pathways are Morphine addiction and p38 Signaling. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GABRG2.

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

summary for GABRG1 Gene:
GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating
the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting
of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta).
The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with
a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites
for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRG1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_006238.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GABRG1 gene promoter:
         Olf-1   FOXO3   FOXO3b   POU2F1   POU2F1a   POU2F1b   FOXO3a   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRG1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GABRG1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRG1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
GABRG1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M045953:  view genomic region     (about GC identifiers)

Start:
46,037,786 bp from pter      End:
46,126,098 bp from pter
Size:
88,313 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Explore the universe of human proteins at neXtProt for GABRG1: NX_Q8N1C3

Explore proteomics data for GABRG1 at MOPED 

Post-translational modifications:

  • UniProtKB: May be palmitoylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N1C3

  • GABRG1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GABRG1 Protein Expression
    REFSEQ proteins: NP_775807.2  
    ENSEMBL proteins: 
     ENSP00000295452  

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    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane ----
    GO:0030054cell junction IEA--
    GO:0034707chloride channel complex IEA--

    GABRG1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GABRA: Ligand-gated ion channels / GABA(A) receptors
    GABR: GABA receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: γ1 
    GABAA receptors

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

    Graphical View of Domain Structure for InterPro Entry Q8N1C3

    ProtoNet protein and cluster: Q8N1C3

    4 Blocks protein domains:
    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 ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRG1 sub-subfamily


    GABRG1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890GABA-A receptor activity IEA--
    GO:0005230extracellular ligand-gated ion channel activity IEA--
    GO:0005254chloride channel activity IEA--
    GO:0050811GABA receptor binding IEA--
         
    GABRG1 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GABRG1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    2Akt Signaling
    Akt Signaling0.60
    3Apoptosis Pathway
    Akt Pathway0.39
    4Sweet Taste Signaling
    Sperm Motility0.37
    5Class A/1 (Rhodopsin-like receptors)
    Neuroactive ligand-receptor interaction0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for GABRG1
        GABA signaling in brain

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GABRG1
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRG1
        Akt Pathway



    5         Kegg Pathways  (Kegg details for GABRG1):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    GABAergic synapse
    Morphine addiction
    Nicotine addiction


    GABRG1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GABRG1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for GABRG1 (Q8N1C33 ENSP000002954524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPO951663, ENSP000003068664I2D: score=2 STRING: ENSP00000306866
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport ----
    GO:0007214gamma-aminobutyric acid signaling pathway IEA--
    GO:0007268synaptic transmission IEA--

    GABRG1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GABRG1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (+)-BicucullinePotent GABAA antagonist[485-49-4]
    MuscimolPotent GABAA agonist[2763-96-4]
    (-)-Bicuculline methiodideWater-soluble GABAA antagonist[40709-69-1]
    (-)-Bicuculline methochlorideWater-soluble GABAA antagonist[53552-05-9]
    SR 95531 hydrobromide Selective, competitive GABAA receptor antagonist [104104-50-9]

    2 HMDB Compounds for GABRG1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--

    10/23 DrugBank Compounds for GABRG1 (see all 23)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Lorazepam(+/-)-Lorazepam (see all 3)846-49-1targetpotentiator20138190 18384456 11752090
    Adinazolam-- 37115-32-5targetpotentiator6320036 6148400
    Chlordiazepoxide-- 58-25-3targetpotentiator18384456 11752090
    ClobazamAedon (see all 23)22316-47-8targetpotentiator18384456 11752090
    ClonazepamChlonazepam (see all 2)1622-61-3targetpotentiator18384456 11752090
    Clorazepate-- 23887-31-2targetpotentiator18384456 11752090
    Clotiazepam-- 33671-46-4targetpotentiator18604239 18855614
    Diazepam-- 439-14-5targetpotentiator18384456 11752090
    Estazolam-- 29975-16-4targetpotentiator639854 2889803
    Flurazepam-- 17617-23-1targetpotentiator18384456 11752090

    2 IUPHAR Ligands for GABRG1 (γ1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    TBPS
    Channel blockerNone--
    picrotoxin
    Channel blockerNone--

    Search CenterWatch for drugs/clinical trials and news about GABRG1 / GBRG1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GABRG1 gene: 
    NM_173536.3  

    Unigene Cluster for GABRG1:

    Gamma-aminobutyric acid (GABA) A receptor, gamma 1
    Hs.375051  [show with all ESTs]
    Unigene Representative Sequence: BX648937
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000295452(uc003gxb.3)

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    Additional mRNA sequence: 

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

    1 DOTS entry:

    DT.75165789 

    18 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GABRG1 expression in normal human tissues (normalized intensities)      GABRG1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GABRG1 Expression
    About this image


    GABRG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 24 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             Thalamus
             Substantia Nigra   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Blood Brain Barrier (Nervous System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Neural Tube (Nervous System)
             Telencephalon

    See GABRG1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GABRG1

    SOURCE GeneReport for Unigene cluster: Hs.375051
        SABiosciences Expression via Pathway-Focused PCR Arrays including GABRG1: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRG1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GABRG1 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gabrg11 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 88.07(n)1
    95.47(a)1
      5 (37.43 cM)5
    144051  NM_010252.41  NP_034382.21 
     707510475 
    chicken
    (Gallus gallus)
    Aves GABRG11 gamma-aminobutyric acid (GABA) A receptor, gamma 1 80.92(n)
    89.98(a)
      422771  XM_420725.2  XP_420725.2 
    lizard
    (Anolis carolinensis)
    Reptilia GABRG16
    GABRE6
    Uncharacterized protein
    88(a)
    59(a)
    1 ↔ 1
    possible ortholog
    5(102816178-102938177)
    GL343376.1(989553-1001645)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5562021 gamma-aminobutyric acid receptor subunit gamma-1-like 71.84(n)
    80.47(a)
      556202  XM_678955.4  XP_684047.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG89166
    Grd6
    Glycine receptor
    24(a)
    22(a)
    many ↔ many
    many ↔ many
    X(15815988-15818591)
    3L(17816433-17832867)
    worm
    (Caenorhabditis elegans)
    Secernentea lgc-376
    lgc-366
    Protein LGC-36
    31(a)
    20(a)
    many ↔ many
    many ↔ many
    III(12785154-12793128)
    V(11256521-11258996)


    ENSEMBL Gene Tree for GABRG1 (if available)
    TreeFam Gene Tree for GABRG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GABRG1 gene
    GABRG22  GABRE2  GABRA22  GABRA62  GABRA42  GABRA52  GABRG32  GABRA32  
    GABRA12  
    18/23 SIMAP similar genes for GABRG1 using alignment to 1 protein entry:     GBRG1_HUMAN(see all similar genes):
    GABRG2    GABRG3    GABRE    GABRA3    GABRA4    GABRA6
    GABRA2    GABRA1    GABRA5    GABRP    GABRQ    GLRA4
    GABRB2    GABRD    GABRR1    GABRR2    GABRR3    GLRA2

    GABRG1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1802 SNPs in GABRG1 are shown (see all 1802)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1939209161,2
    Cuntested146125899(-) CTCCCC/TTTTTC 2 P L mis10--------
    rs339248541,2
    C--45422885(+) TTTAG-/A/AA  
            
    AAAAA
    1 -- int10--------
    rs763744071,2
    C--46037318(+) ACAGGA/G/TAAGGG 1 -- ds50010--------
    rs1402653751,2
    C--46037580(+) ATGCAC/TAAGCT 1 -- ds50010--------
    rs14975641,2
    C,H--46037709(+) AACTTC/TAATAC 1 -- ds50015Minor allele frequency- T:0.07NS EA WA 416
    rs732418581,2
    C--46037751(+) AAGGGA/TTATAG 1 -- ds50010--------
    rs2013200251,2
    C--46037953(+) AATCAA/CAAGCC 1 -- ut310--------
    rs1855954051,2
    --46038055(+) TTTAGA/GTAAAT 1 -- ut310--------
    rs109384231,2
    C,F,H--46038274(+) CTACCT/CGCAAT 1 -- ut31 ese327Minor allele frequency- C:0.50NA NS EA WA CSA 2491
    rs1898626711,2
    --46038535(+) CTTATG/TGTGTC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for GABRG1 (46037786 - 46126098 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for GABRG1 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1007613CNV Deletion20482838
    esv2727523CNV Deletion23290073
    esv2490068CNV Deletion19546169
    esv2727522CNV Deletion23290073
    esv2113506CNV Deletion18987734
    esv267501CNV Insertion20981092
    nsv509894CNV Loss20534489
    nsv461353CNV Loss19166990
    dgv5538n71CNV Loss21882294
    dgv5537n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 137166    OMIM disorders: --

    11 diseases for GABRG1:    About MalaCards
    wolfram syndrome    schizoaffective disorder    eating disorder    alcohol dependence
    anorexia nervosa    bipolar disorder    alcoholism    mental retardation
    schizophrenia    alzheimer's disease    neuronitis

    1 disease from the University of Copenhagen DISEASES database for GABRG1:
    Alcohol dependence

    GABRG1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): GABRG1
    Human Genome Epidemiology (HuGE) Navigator: GABRG1 (10 documents)

    Export disorders for GABRG1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GABRG1 gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with GABRG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 1321425)1, 3, 9 Wilcox A.S....Sikela J.M. (1992)
    2. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. (PubMed id 20583128)1, 4 Green E.K....Craddock N. (2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)
    5. Associations Among GABRG1, Level of Response to Alcohol, and Drinking Behaviors. (PubMed id 19426171)1, 4 Ray L.A. and Hutchison K.E. (2009)
    6. Recurrent rearrangements in synaptic and neurodevelop mental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1, 4 Guilmatre A....Campion D. (2009)
    7. Markers in the 5'-region of GABRG1 associate to alcohol dependence and are in linkage disequilibrium with markers in the adjacent GABRA2 gene. (PubMed id 17507911)1, 4 Covault J....Kranzler H.R. (2008)
    8. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (2008)
    9. Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961)1, 4 Craddock N....O'Donovan M.C. (2008)
    10. GABRG1 and GABRA2 as Independent Predictors for Alcoholism in Two Populations. (PubMed id 18818659)1, 4 Enoch M.A....Goldman D. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2565 HGNC: 4086 AceView: GABRG1 Ensembl:ENSG00000163285 euGenes: HUgn2565
    ECgene: GABRG1 Kegg: 2565 H-InvDB: GABRG1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GABRG1 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt056.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GABRG1 gene:
    Search GeneIP for patents involving GABRG1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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