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

GABRB1 Gene

protein-coding   GIFtS: 69
GCID: GC04P046949

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

  See related diseases
at  

(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, Beta 11 2
GABA(A) Receptor Subunit Beta-12 3
Beta 11
GABA(A) Receptor1
GABA(A) Receptor, Beta 12
Gamma-Aminobutyric Acid Receptor Subunit Beta-12

External Ids:    HGNC: 40811   Entrez Gene: 25602   Ensembl: ENSG000001632887   OMIM: 1371905   UniProtKB: P185053   

Export aliases for GABRB1 gene to outside databases

Previous GC identifers: GC04P047104 GC04P047342 GC04P046883 GC04P046874 GC04P046728 GC04P046352


(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 GABRB1 Gene:
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, beta 1
subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1
subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia.
(provided by RefSeq, Jul 2008)

GeneCards Summary for GABRB1 Gene: 
GABRB1 (gamma-aminobutyric acid (GABA) A receptor, beta 1) is a protein-coding gene. Diseases associated with GABRB1 include schizophrenia, and schizoaffective disorder, and among its related super-pathways are Synaptic Neurotransmission: GABAergic Inhibition and Morphine addiction. GO annotations related to this gene include chloride channel activity and GABA-A receptor activity. An important paralog of this gene is GLRA2.

UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505
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 GABRB1 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 GABRB1 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  NT_006238.11  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GABRB1 gene promoter:
         HOXA9   HOXA9B   NF-AT4   NF-AT2   HFH-1   NF-AT3   Meis-1a   NF-AT1   NF-AT   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGABRB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for GABRB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRB1


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

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

GABRB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRB1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P046949:  view genomic region     (about GC identifiers)

Start:
46,995,740 bp from pter      End:
47,428,462 bp from pter
Size:
432,723 bases      Orientation:
plus 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: GBRB1_HUMAN, P18505 (See protein sequence)
Recommended Name: Gamma-aminobutyric acid receptor subunit beta-1 precursor  
Size: 474 amino acids; 54235 Da
Subunit: Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains:
alpha, beta, gamma, delta, and rho. Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the
pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response,
although to different extents (By similarity)
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
membrane; Multi-pass membrane protein
Secondary accessions: B2R6U7 Q16166 Q8TBK3

Explore the universe of human proteins at neXtProt for GABRB1: NX_P18505

Explore proteomics data for GABRB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P18505

  • GABRB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GABRB1 Protein Expression
    REFSEQ proteins: NP_000803.2  
    ENSEMBL proteins: 
     ENSP00000426753   ENSP00000295454   ENSP00000426766   ENSP00000440330  
    Reactome Protein details: P18505
    Human Recombinant Protein Products for GABRB1: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005635nuclear envelope IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS2465923

    GABRB1 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: β1 
    GABAA receptors

    5/6 InterPro protein domains (see all 6):
     IPR002289 GABAAb_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR006202 Neur_chan_lig-bd

    Graphical View of Domain Structure for InterPro Entry P18505

    ProtoNet protein and cluster: P18505

    3 Blocks protein domains:
    IPB002289 Gamma-aminobutyric-acid A receptor beta subunit signature
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel


    UniProtKB/Swiss-Prot: GBRB1_HUMAN, P18505
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC
    1.A.9.5) subfamily. GABRB1 sub-subfamily


    GABRB1 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: GBRB1_HUMAN, P18505
    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 GABRB1:
    gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta subunit 1,component of a pentameric receptor mediating
    inhibitory neurotransmission,(no evident association of GABRB1 polymorphism (H396Q) with schizophrenia)

         Gene Ontology (GO): 5 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:0005253anion channel activity ----
    GO:0005254chloride channel activity IEA--
    GO:0050811GABA receptor binding IEA--
         
    GABRB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GABRB1:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidGABRB1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB1


    (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 GABRB1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1GABA A receptor activation
    GABA A receptor activation0.48
    Synaptic Neurotransmission: GABAergic Inhibition0.45
    Ligand-gated ion channel transport0.48
    GABA signaling in brain0.32
    2Circadian entrainment
    GABAergic synapse0.53
    Retrograde endocannabinoid signaling0.51
    Morphine addiction0.53
    Serotonergic synapse0.33
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling0.98
    5Activation of GABAB receptors
    GABA receptor activation0.72

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for GABRB1
        Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    GABA signaling in brain
    Signal transduction PKA signaling

    1 R&D Systems Pathway for GABRB1
        Synaptic Neurotransmission: GABAergic Inhibition

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GABRB1
        Sperm Motility
    Akt Signaling

    1 Tocris Bioscience Pathway for GABRB1
        Akt Pathway

    2 GeneGo (Thomson Reuters) Pathways for GABRB1
        Signal transduction PKA signaling
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling


    5/8        Reactome Pathways for GABRB1 (see all 8)
        GABA A receptor activation
    Ligand-gated ion channel transport
    Transmission across Chemical Synapses
    Ion channel transport
    Neuronal System


    5/6         Kegg Pathways  (Kegg details for GABRB1) (see all 6):
        Neuroactive ligand-receptor interaction
    Retrograde endocannabinoid signaling
    Serotonergic synapse
    GABAergic synapse
    Morphine addiction


    GABRB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GABRB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for GABRB1 (P185053 ENSP000002954544) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARFGEF2Q9Y6D53, ENSP000003609854I2D: score=1 STRING: ENSP00000360985
    C1QBPQ070213, ENSP000002256984I2D: score=1 STRING: ENSP00000225698
    PIK3CAP423363, ENSP000002639674I2D: score=1 STRING: ENSP00000263967
    AKAP5P245883, ENSP000003156154I2D: score=1 STRING: ENSP00000315615
    GABRA1ENSP000000238974STRING: ENSP00000023897
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS2465923
    GO:0006811ion transport ----
    GO:0007165signal transduction TAS2465923
    GO:0007268synaptic transmission TAS--
    GO:0009636response to toxic substance IEA--

    GABRB1 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

    GABRB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for GABRB1 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 GABRB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--

    10/26 DrugBank Compounds for GABRB1 (see all 26)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    LindaneBenzene hexachloride (see all 11)58-89-9targetantagonist7885191 17139284 12645305 17016423 14635176 9530529 8841090 20600211 12614680 10592235 7566682
    Ketazolam-- 27223-35-4targetpotentiator18384456 11752090 15009644 2874815
    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
    Diazepam-- 439-14-5targetpotentiator18384456 11752090
    Estazolam-- 29975-16-4targetpotentiator639854 2889803

    2 IUPHAR Ligands for GABRB1 (β1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    TBPS
    Channel blockerNone--
    picrotoxin
    Channel blockerNone--

    1 Novoseek inferred chemical compound relationship for GABRB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 54.7 1 10447508 (1)

    Search CenterWatch for drugs/clinical trials and news about GABRB1 / GBRB1

    (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,
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    About This Section

    REFSEQ mRNAs for GABRB1 gene: 
    NM_000812.3  

    Unigene Cluster for GABRB1:

    Gamma-aminobutyric acid (GABA) A receptor, beta 1
    Hs.27283  [show with all ESTs]
    Unigene Representative Sequence: AK127001
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513567 ENST00000295454(uc003gxh.3 uc011bze.2) ENST00000509366(uc010igg.2)
    ENST00000381582(uc011bzd.1) ENST00000510909 ENST00000538619
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    Additional mRNA sequence: 

    AK127001.1 AK225167.1 AK225686.1 AK293691.1 AK296023.1 AK307120.1 AK312720.1 BC022449.1 
    X14767.1 

    7 DOTS entries:

    DT.100736124  DT.121242475  DT.306766  DT.100651213  DT.95226531  DT.86844311  DT.97804655 

    24 AceView cDNA sequences:

    AU120212 CR614851 T48783 BC022449 CB117591 AU146340 X14767 BI915562 
    BX493012 AU099641 BP345257 NM_000812 AL539372 AK127001 AW301170 BM925256 
    AL539373 BG709494 N55240 R45230 BG704311 BF364194 BP348730 R24969 

    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

    GABRB1 expression in normal human tissues (normalized intensities)      GABRB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTACAAACA
    GABRB1 Expression
    About this image


    GABRB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Thalamus
             Prefrontal Cortex   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor W10
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See GABRB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GABRB1

    SOURCE GeneReport for Unigene cluster: Hs.27283
        SABiosciences Expression via Pathway-Focused PCR Arrays including GABRB1: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB1

    (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 GABRB1 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 Gabrb11 , 5 gamma-aminobutyric acid (GABA) A receptor, subunit more1, 5 91.7(n)1
    98.1(a)1
      5 (38.18 cM)5
    144001  NM_008069.41  NP_032095.11 
     716999325 
    chicken
    (Gallus gallus)
    Aves GABRQ1 gamma-aminobutyric acid (GABA) receptor, theta 68.29(n)
    71.61(a)
      396288  NM_001167703.1  NP_001161175.1 
    lizard
    (Anolis carolinensis)
    Reptilia GABRB16
    gamma-aminobutyric acid (GABA) A receptor, beta 1
    89(a)
    1 ↔ 1
    GL343293.1(153699-301301)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5665141 similar to gamma-aminobutyric acid receptor beta subunit 68.45(n)
    74.55(a)
      566514  XM_689786.5  XP_694878.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Lcch33 GABA-A receptor 48(a)
    (best of 6)
      14A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea gab-13 GABA receptor 43(a)
    (best of 22)
      III(12844721-12850963)   --


    ENSEMBL Gene Tree for GABRB1 (if available)
    TreeFam Gene Tree for GABRB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GABRB1 gene
    GLRA22  GABRR12  GLRA12  GLRB2  GABRD2  GABRP2  GLRA42  GABRB32  
    GABRB22  GABRQ2  GLRA32  GABRR22  
    18/24 SIMAP similar genes for GABRB1 using alignment to 4 protein entries:     GBRB1_HUMAN (see all proteins) (see all similar genes):
    GABRB3    DKFZp781L0846    GABRB2    GABRQ    GABRP    GABRA3
    GABRA2    GLRA4    GABRD    GABRA5    GABRE    GABRG3
    GABRR2    GABRA6    GABRG2    GABRR1    GABRR3    GLRA2

    GABRB1 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

    10/7747 SNPs in GABRB1 are shown (see all 7747)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs356216971,2
    C--46643102(+) TTGAC-/TTTGTGA 1 -- int10--------
    rs287109471,2
    C,F--47031365(+) TATCTG/CATGAG 1 -- us2k19Minor allele frequency- C:0.42NA WA CSA EA 368
    rs1378800141,2
    --47031367(+) TCTCAC/TGAGTT 1 -- us2k10--------
    rs1845845751,2
    --47031482(+) ACAAAA/CCTTCT 1 -- us2k10--------
    rs1891010471,2
    --47031576(+) TTTTAA/GCATAG 1 -- us2k10--------
    rs1807346141,2
    --47031586(+) GTTATA/CGCAAT 1 -- us2k10--------
    rs1423096591,2
    --47031587(+) TTATCA/GCAATA 1 -- us2k10--------
    rs1865027431,2
    --47031588(+) TATCGC/GAATAA 1 -- us2k10--------
    rs1459406621,2
    --47031667(+) TCCTAA/TATAGT 1 -- us2k10--------
    rs1908454941,2
    --47031755(+) TAAAGA/TTCTAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GABRB1 (46995740 - 47245740 bp, first 250kb of GABRB1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for GABRB1 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2642095CNV Deletion19546169
    esv2576648CNV Deletion19546169
    esv2667961CNV Deletion23128226
    nsv4326CNV Insertion18451855
    nsv879003CNV Loss21882294
    nsv879004CNV Loss21882294
    esv25226CNV Loss19812545
    esv994776CNV Loss20482838
    nsv879005CNV Loss21882294
    nsv4325CNV Loss18451855

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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: 137190    OMIM disorders: --

    10 diseases for GABRB1:    About MalaCards
    schizophrenia    schizoaffective disorder    panic disorder    temporal lobe epilepsy
    alcohol dependence    anorexia nervosa    alcoholism    bipolar disorder
    cerebritis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for GABRB1:
    Alcohol dependence     Schizoaffective disorder     Autistic disorder

    GABRB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GABRB1
    Human Genome Epidemiology (HuGE) Navigator: GABRB1 (17 documents)

    Export disorders for GABRB1 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 GABRB1 gene, integrated from 9 sources (see all 84) (see top 10):
    (articles sorted by number of sources associating them with GABRB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)
    2. 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)
    3. Genetic utility of broadly defined bipolar schizoaffe ctive disorder as a diagnostic concept. (PubMed id 19567891)1, 4 Hamshere M.L....McGuffin P. (2009)
    4. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (2009)
    5. 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)
    6. Do motor control genes contribute to interindividual variability in decreased movement in patients with pain? (PubMed id 17655760)1, 4 Mishra B.K....Max M.B. (2007)
    7. The polymorphism GABABR1 T1974C[rs29230] of the GABAB receptor gene is not associated with the diagnosis of alcoholism or alcohol withdrawal seizures. (PubMed id 16800828)1, 4 Kohnke M....Batra A. (2006)
    8. Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy. (PubMed id 16278087)1, 4 Ren L....Shen Y. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy. (PubMed id 12601092)1, 4 Gambardella A....Quattrone A. (2003)
    11. A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory. (PubMed id 11140838)1, 4 Comings D.E....MacMurray J.P. (2000)
    12. Exonic variants of the GABA(B) receptor gene and panic disorder. (PubMed id 11324945)1, 4 Sand P.G....Deckert J. (2000)
    13. Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia. (PubMed id 8178835)1, 2 Coon H.... Wender P. (1994)
    14. Isolation, characterization, and localization of human genomic DNA encoding the beta 1 subunit of the GABAA receptor (GABRB1). (PubMed id 1655634)1, 2 Kirkness E.F.... Venter J.C. (1991)
    15. Differential expression of gamma-aminobutyric acidA receptor subunits. (PubMed id 2160058)1, 2 Garrett K.M.... Blume A.J. (1990)
    16. Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. (PubMed id 2465923)1, 2 Schofield P.R....Seeburg P.H. (1989)
    17. Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. (PubMed id 10490712)4, 9 Parsian A. and Zhang Z.H. (1999)
    18. The effect of folic acid on GABA(A)-B 1 receptor subun it. (PubMed id 23392927)1 Vasquez K....Idrissi A.E. (2013)
    19. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    20. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    21. Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy. (PubMed id 20848605)1 de Moura J.C....Carlotti Junior C.G. (2012)
    22. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    23. New insight into the central benzodiazepine receptor- ligand interactions: design, synthesis, biological evaluation, and molecular mo deling of 3-substituted 6-phenyl-4H-imidazo[1,5-a][1,4]benzodiazepines and rela ted compounds. (PubMed id 21751815)1 Anzini M....Biggio G. (2011)
    24. [The expression of GABA(A) receptor alpha1 and GABA(B) receptor 1 in medulla oblongata solitary nucleus and ambiguous nucleus in the c ases of tramadol intoxication]. (PubMed id 22393585)1 Zhang S....Fan Y.Y. (2011)
    25. Lamina-specific alterations in cortical GABA(A) recept or subunit expression in schizophrenia. (PubMed id 20843900)1 Beneyto M....Lewis D.A. (2011)
    26. Dual actions of lindane (I^-hexachlorocyclohexane) on calcium homeostasis and exocytosis in rat PC12 cells. (PubMed id 20600211)7 Heusinkveld H.J....Westerink R.H. (2010)
    27. Atypical behavioural effects of lorazepam: clues to t he design of novel therapies? (PubMed id 20138190)7 Giersch A....Vidailhet P. (2010)
    28. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    29. Multiple modes for conferring surface expression of homomeric beta1 GABAA receptors. (PubMed id 18650446)1 Bracamontes J.R. and Steinbach J.H. (2008)
    30. Benzodiazepine metabolism: an analytical perspective. (PubMed id 18855614)7 Mandrioli R....Raggi M.A. (2008)
    31. Benzodiazepines in epilepsy: pharmacology and pharmac okinetics. (PubMed id 18384456)7 Riss J....Collins S. (2008)
    32. Histamine action on vertebrate GABAA receptors: direct channel gating and potentiation of GABA responses. (PubMed id 18281286)1 Saras A....Hatt H. (2008)
    33. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1 Denis N.J.... Figeys D. (2007)
    34. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)
    35. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (2007)
    36. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
    37. Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. (PubMed id 16770606)1 Collins A.L....Pericak-Vance M.A. (2006)
    38. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    39. [A mechanism for gamma-hydroxybutyrate (GHB) as a drug and a substance of abuse] (PubMed id 15745703)7 Maitre M....Andriamampandry C. (2005)
    40. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    41. The brefeldin A-inhibited GDP/GTP exchange factor 2, a protein involved in vesicular trafficking, interacts with the beta subunits of the GABA receptors. (PubMed id 15198677)1 Charych E.I....De Blas A.L. (2004)
    42. GABAA receptor beta subunit mRNA expression in the human alcoholic brain. (PubMed id 15337300)1 Buckley S.T. and Dodd P.R. (2004)
    43. Identification of a residue in the gamma-aminobutyric acid type A receptor alpha subunit that differentially affects diazepam-sensit ive and -insensitive benzodiazepine site binding. (PubMed id 15009644)7 Derry J.M....Davies M. (2004)
    44. The organochlorine pesticides gamma-hexachlorocyclohe xane (lindane), alpha-endosulfan and dieldrin differentially interact with GABA (A) and glycine-gated chloride channels in primary cultures of cerebellar granu le cells. (PubMed id 12614680)7 Vale C....SuA+ol C. (2003)
    45. A-kinase anchoring protein 79/150 facilitates the phosphorylation of GABA(A) receptors by cAMP-dependent protein kinase via selective interaction with receptor beta subunits. (PubMed id 12595241)1 Brandon N.J....Moss S.J. (2003)
    46. Chloride channels as tools for developing selective i nsecticides. (PubMed id 14635176)7 Bloomquist J.R. (2003)
    47. Candidate genes for alcohol dependence: a review of genetic evidence from human studies. (PubMed id 12766633)4 Dick D.M. and Foroud T. (2003)
    48. [Cardiotoxicity of lindane, a gamma isomer of hexachlorocyclohexane] (PubMed id 12645305)7 Sauviat M.P. and Pages N. (2002)
    49. A new benzodiazepine pharmacology. (PubMed id 11752090)7 MAPhler H....Rudolph U. (2002)
    50. Linkage disequilibrium between the beta frequency of the human EEG and a GABAA receptor gene locus. (PubMed id 11891318)1 Porjesz B....Begleiter H. (2002)
    51. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    52. GABA(A) receptor cell surface number and subunit stability are regulated by the ubiquitin-like protein Plic-1. (PubMed id 11528422)1 Bedford F.K....Moss S.J. (2001)
    53. Unique phosphorylation mechanism of Gab1 using PI 3-kinase as an adaptor protein. (PubMed id 11606067)1 Onishi-Haraikawa Y....Asano T. (2001)
    54. Interaction between GABA(A) receptor beta subunits and the multifunctional protein gC1q-R. (PubMed id 11350968)1 Schaerer M.T....Sigel E. (2001)
    55. Expression and distribution of GABAA receptor subtypes in human alcoholic cerebral cortex. (PubMed id 11085308)1 Buckley S.T....Dodd P.R. (2000)
    56. An initiator element mediates autologous downregulation of the human type A gamma -aminobutyric acid receptor beta 1 subunit gene. (PubMed id 10900018)1 Russek S.J....Farb D.H. (2000)
    57. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (2000)
    58. Theta, a novel gamma-aminobutyric acid type A receptor subunit. (PubMed id 10449790)1 Bonnert T.P.... Whiting P.J. (1999)
    59. Evolution of GABA(A) receptor diversity in the human genome. (PubMed id 10023064)1 Russek S.J. (1999)
    60. Role of GABA receptor complex in low dose lindane (HC H) induced neurotoxicity: neurobehavioural, neurochemical and electrophysiologi cal studies. (PubMed id 9530529)7 Anand M....Seth P.K. (1998)
    61. Adjacent phosphorylation sites on GABAA receptor beta subunits determine regulation by cAMP-dependent protein kinase. (PubMed id 10195104)1 McDonald B.J....Smart T.G. (1998)
    62. A study of genetic association between manic-depressive illness and a highly polymorphic marker from the GABRbeta-1 gene. (PubMed id 9184321)4 Puertollano R....Fernandez-Piqueras J. (1997)
    63. Neuronal ion channels as the target sites of insecticides. (PubMed id 8841090)7 Narahashi T. (1996)
    64. Lindane blocks GABAA-mediated inhibition and modulate s pyramidal cell excitability in the rat hippocampal slice. (PubMed id 7566682)7 Joy R.M....Albertson T.E. (1995)
    65. Drosophila GABA-gated chloride channel: modified [3H] EBOB binding site associated with Ala-->Ser or Gly mutants of Rdl subunit. (PubMed id 7885191)7 Cole L.M....Casida J.E. (1995)
    66. Molecular determinants of recognition and activation at the cerebellar benzodiazepine receptor site. (PubMed id 7773620)7 Schove L.T....Loew G.H. (1994)
    67. A selective fluorimetric method for the determination of some 1,4-benzodiazepine drugs containing a hydroxyl group at C-3. (PubMed id 7849137)7 Walash M.I....Hefnawy M.M. (1994)
    68. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (1994)
    69. Functional modulation of GABAA receptors by cAMP-dependent protein phosphorylation. (PubMed id 1323140)1 Moss S.J....Huganir R.L. (1992)
    70. Identification of the cAMP-dependent protein kinase and protein kinase C phosphorylation sites within the major intracellular domains of the beta 1, gamma 2S, and gamma 2L subunits of the gamma-aminobutyric acid type A receptor. (PubMed id 1321150)1 Moss S.J....Huganir R.L. (1992)
    71. Genetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism. (PubMed id 1652891)1 Dean M....Goldman D. (1991)
    72. Selective affinity of the benzodiazepines quazepam an d 2-oxo-quazepam for BZ1 binding site and demonstration of 3H-2-oxo-quazepam as a BZ1 selective radioligand. (PubMed id 2892106)7 Billard W....Barnett A. (1988)
    73. Benzodiazepine receptor binding of triazolobenzodiaze pines in vivo: increased receptor number with low-dose alprazolam. (PubMed id 2889803)7 Miller L.G....Paul S.M. (1987)
    74. Benzodiazepine receptors and their relationship to th e treatment of epilepsy. (PubMed id 3017690)7 Meldrum B.S. and Chapman A.G. (1986)
    75. [Racemation of the benzodiazepines camazepam and keta zolam and receptor binding of enantiomers]. (PubMed id 2874815)7 Blaschke G....MA1ller W.E. (1986)
    76. Autoradiographic demonstration of the selectivity of two 1-N-trifluoroethyl benzodiazepines for the BZD-1 receptors in the rat brain . (PubMed id 2867566)7 Wamsley J.K....Barnett A. (1985)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2560 HGNC: 4081 AceView: GABRB1 Ensembl:ENSG00000163288 euGenes: HUgn2560
    ECgene: GABRB1 Kegg: 2560 H-InvDB: GABRB1

    (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 GABRB1 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 GABRB1 gene:
    Search GeneIP for patents involving GABRB1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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