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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 nicotine addiction. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_006238.12  
Regulatory elements:
   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 Chromatin IP Primers for GABRG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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: 

  • May be palmitoylated (By similarity)1
  • Glycosylation2 at Asn50, Asn127, Asn245
  • Modification sites at PhosphoSitePlus

  • See GABRG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775807.2  
    ENSEMBL proteins: 
     ENSP00000295452  

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: gamma1
    GABAA receptors

    Selected 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABRG1
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    hsa-miR-21* hsa-miR-505 hsa-miR-300 hsa-miR-548e hsa-miR-381 hsa-miR-346 hsa-miR-570 hsa-miR-548a-3p
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GBRG1_HUMAN, Q8N1C3: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--
    GO:0034707chloride channel complex IEA--
    GO:0043235receptor complex IEA--

    GABRG1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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
    5Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe 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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRG1: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GABRG1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for GABRG1 (Q8N1C33 ENSP000002954524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPO951663, ENSP000003068664I2D: score=2 STRING: ENSP00000306866
    GPHNENSP000003030194STRING: ENSP00000303019
    About this table

    Gene Ontology (GO): 4 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    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--

    Selected 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 (gamma1)    About this table
    LigandTypeActionAffinityPubmed IDs
    TBPS
    Channel blockerNone--
    picrotoxin
    Channel blockerNone--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    hsa-miR-21* hsa-miR-505 hsa-miR-300 hsa-miR-548e hsa-miR-381 hsa-miR-346 hsa-miR-570 hsa-miR-548a-3p
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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:

    NM_173536 BQ188415 AK124800 AK122845 CK299610 F09193 BX410065 F11531 
    AL119089 CK005243 BI600401 BX648937 BX420702 N92667 BC031087 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GABRG1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 26 entries
             Mature Endothelial Cells Blood Brain Barrier
             Thalamus
             Oligodendrocyte-like cells
             Substantia Nigra   
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
     
     Oligodendrocytes (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
     
     Neural Tube (Nervous System)
             Telencephalon
    GABRG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.375051
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRG1: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Primer
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for GABRG1 gene from Selected species (see all 13)    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_420725.3  XP_420725.2 
    lizard
    (Anolis carolinensis)
    Reptilia GABRG16
    gamma-aminobutyric acid (GABA) A receptor, gamma 1...
    88(a)
    1 ↔ 1
    5(102816178-102938177)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5562021 gamma-aminobutyric acid receptor subunit gamma-1-like 71.84(n)
    80.47(a)
      556202  XM_678955.5  XP_684047.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG89166
    Grd6
    Glycine receptor
    26(a)
    25(a)
    many ↔ many
    many ↔ many
    X(15815988-15818591)
    3L(17816433-17832867)
    worm
    (Caenorhabditis elegans)
    Secernentea lgc-376
    lgc-366
    Protein LGC-36 (lgc-36) mRNA, complete cds
    33(a)
    24(a)
    many ↔ many
    many ↔ many
    III(12785154-12793128) WBGene00013914
    V(11256521-11258996) WBGene00008551


    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

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    Paralogs for GABRG1 gene
    GABRG22  GABRE2  GABRA22  GABRA62  GABRA42  GABRA52  GABRG32  GABRA32  
    GABRA12  
    Selected 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GABRG1 (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRG1
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRG1

    (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.)
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    OMIM gene information: 137166    OMIM disorders: --

    14 diseases for GABRG1:    
    About MalaCards
    wolfram syndrome    nicotine addiction    eating disorder    schizoaffective disorder
    alcohol dependence    anorexia nervosa    bipolar disorder    mental retardation
    schizophrenia    atherosclerosis    alzheimer's disease    cerebritis
    endotheliitis    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)
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    PubMed articles for GABRG1 gene, integrated from 10 sources (see all 43):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 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. (Mol. Med. 2010)
    4. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    5. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961)1, 4 Craddock N....O'Donovan M.C. (Mol. Psychiatry 2010)
    6. Associations among GABRG1, level of response to alcohol, and drinking behaviors. (PubMed id 19426171)1, 4 Ray L.A. and Hutchison K.E. (Alcohol. Clin. Exp. Res. 2009)
    7. 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    8. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1, 4 Guilmatre A....Campion D. (Arch. Gen. Psychiatry 2009)
    9. GABRG1 and GABRA2 as independent predictors for alcoholism in two populations. (PubMed id 18818659)1, 4 Enoch M.A....Goldman D. (Neuropsychopharmacology 2009)
    10. 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. (Neuropsychopharmacology 2008)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GABRG1 Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/056

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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