Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



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

TryGeneCards Plus

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

TryGeneCards Plus

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 nicotine addiction, and autistic disorder. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_006238.12  
Regulatory elements:
   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 Chromatin IP Primers for GABRB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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)
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: 

  • Glycosylation2 at Asn105, Asn174
  • Modification sites at PhosphoSitePlus

  • See GABRB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000803.2  
    ENSEMBL proteins: 
     ENSP00000426753   ENSP00000295454   ENSP00000426766   ENSP00000440330  
    Reactome Protein details: P18505

    GABRB1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for GABRB1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GABRB1
    GenScript Custom Purified and Recombinant Proteins Services for GABRB1
    Novus Biologicals GABRB1 Protein
    Novus Biologicals GABRB1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GABRB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GABRB1
    R&D Systems Antibodies for GABRB1 (GABA-A R beta 1)
    OriGene Antibodies for GABRB1
    OriGene Custom Antibody Services for GABRB1
    Novus Biologicals GABRB1 Antibodies
    Abcam antibodies for GABRB1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for GABRB1
    LSBio Antibodies in human, mouse, rat for GABRB1

    GABRB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GABRB1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GABRB1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


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

    TryGeneCards Plus
    HGNC Gene Families:
    GABRA: Ligand-gated ion channels / GABA(A) receptors
    GABR: GABA receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: beta1
    GABAA receptors

    Selected 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,
    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.)
    About This Section

    TryGeneCards Plus

    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:    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 ----
         
    GABRB1 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABRB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GABRB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GABRB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GABRB1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat GABRB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GABRB1 (see all 18):
    hsa-miR-30c hsa-miR-3616-5p hsa-miR-30d hsa-miR-103a hsa-miR-3125 hsa-miR-3916 hsa-miR-30a hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidGABRB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GABRB1
    Predesigned siRNA for gene silencing in human, mouse, rat GABRB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GABRB1

    Clone
    Products:
         
    OriGene clones in human, mouse for GABRB1 (see all 6)
    OriGene ORF clones in mouse, rat for GABRB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GABRB1 (NM_000812)
    Sino Biological Human cDNA Clone for GABRB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GABRB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GABRB1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GABRB1
    Browse ESI BIO Cell Lines and PureStem Progenitors for GABRB1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    GBRB1_HUMAN, P18505: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2
    endoplasmic reticulum1
    extracellular1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope ----
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS2465923
    GO:0016020membrane ----

    GABRB1 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for GABRB1 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1GABA signaling in brain
    Synaptic Neurotransmission: GABAergic Inhibition0.32
    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 System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Ligand-gated ion channel transport
    GABA A receptor activation0.00
    Ligand-gated ion channel transport
    5GABA receptor activation
    GABA receptor activation0.73

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    2 Downloadable PowerPoint Slides of GeneGlobe 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


    2 Reactome Pathways for GABRB1
        GABA A receptor activation
    Ligand-gated ion channel transport


    Selected 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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRB1: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GABRB1

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

    Selected 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): Selected biological process terms (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 ----

    GABRB1 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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 (beta1)    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)



    GABRB1 for compounds           About GeneDecksing



    (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,
    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 )
    About This Section

    TryGeneCards Plus

    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
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GABRB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GABRB1 (see all 18):
    hsa-miR-30c hsa-miR-3616-5p hsa-miR-30d hsa-miR-103a hsa-miR-3125 hsa-miR-3916 hsa-miR-30a hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidGABRB1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GABRB1
    Predesigned siRNA for gene silencing in human, mouse, rat GABRB1
    Clone
    Products:
         
    OriGene clones in human, mouse for GABRB1 (see all 6)
    OriGene ORF clones in mouse, rat for GABRB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GABRB1 (NM_000812)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GABRB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GABRB1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GABRB1
    OriGene qSTAR qPCR primer pairs in human, mouse for GABRB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GABRB1
      QuantiTect SYBR Green Assays in human, mouse, rat GABRB1
      QuantiFast Probe-based Assays in human, mouse, rat GABRB1

    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:

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

    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)
    About This Section

    TryGeneCards Plus

    GABRB1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
    GABRB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GABRB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.27283
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GABRB1: 
              Neurotransmitter Receptors in human mouse rat
              GABA & Glutamate in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GABRB1
    OriGene qSTAR qPCR primer pairs in human, mouse for GABRB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GABRB1
    QuantiTect SYBR Green Assays in human, mouse, rat GABRB1
    QuantiFast Probe-based Assays in human, mouse, rat GABRB1
    In Situ
    Assay Products:
     

     
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for GABRB1 gene from Selected species (see all 14)    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) A 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)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gabrb11 gamma-aminobutyric acid (GABA) A receptor, beta 1 76.23(n)
    87.13(a)
      100489344  XM_004911211.1  XP_004911268.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gabrb11 gamma-aminobutyric acid (GABA) A receptor, beta 1 73.9(n)
    84.12(a)
      100331377  XM_002664133.2  XP_002664179.2 
    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

    TryGeneCards Plus
    Paralogs for GABRB1 gene
    GLRA22  GABRR12  GLRA12  GLRB2  GABRR32  GABRD2  GLRA42  GABRP2  
    GABRB32  GABRB22  GABRQ2  GLRA32  GABRR22  
    Selected SIMAP similar genes for GABRB1 using alignment to 4 protein entries:     GBRB1_HUMAN     F5GXV5_HUMAN     D6REM0_HUMAN     D6REL3_HUMAN(see all similar genes)(see first protein):
    GABRB3    DKFZp781L0846    GABRB2    GABRQ    GABRP    GABRA2
    GLRA4    GABRD    GABRA5    GABRE    GABRG3    GABRR2
    GABRA6    GABRG2    GABRR1    GABRR3    GLRA2    GABRA1

    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), 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for GABRB1 (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GABRB1
    DNA2.0 Custom Variant and Variant Library Synthesis for GABRB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 137190    OMIM disorders: --

    14 diseases for GABRB1:    
    About MalaCards
    nicotine addiction    autistic disorder    schizoaffective disorder    schizophrenia
    panic disorder    temporal lobe epilepsy    alcohol dependence    anorexia nervosa
    bipolar disorder    choroiditis    cerebritis    obesity
    neuronitis    endotheliitis

    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

    TryGeneCards Plus

    PubMed articles for GABRB1 gene, integrated from 10 sources (see all 85):
    (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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    2. 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)
    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. Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. (PubMed id 19567891)1, 4 Hamshere M.L....Craddock N. (Br J Psychiatry 2009)
    5. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)
    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. (Mol Pain 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 KAPhnke M....Batra A. (Addict Biol 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. (Seizure 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 2560 HGNC: 4081 AceView: GABRB1 Ensembl:ENSG00000163288 euGenes: HUgn2560
    ECgene: GABRB1 Kegg: 2560 H-InvDB: GABRB1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for GABRB1 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.)
    About This Section

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of GABRB1
     
     EMD Millipore genomic analysis products

      
     Antibodies for GABRB1 (GABA-A R beta 1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     cDNA Clones for GABRB1 (GABA-A R beta 1)   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for GABRB1   OriGene RNAi products in human, mouse, rat for GABRB1  
     OriGene qPCR primer pairs and template standards for GABRB1   OriGene Protein Over-expression Lysate for GABRB1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for GABRB1  
     OriGene qSTAR qPCR primer pairs in human, mouse for GABRB1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for GABRB1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GABRB1   OriGene Custom Protein Services for GABRB1  

     
     
     Block miRNA regulation of human, mouse, rat GABRB1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GABRB1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GABRB1 Predesigned siRNA for gene silencing in human, mouse, rat GABRB1
     QuantiFast Probe-based Assays in human, mouse, rat GABRB1 QuantiTect SYBR Green Assays in human, mouse, rat GABRB1
     PCR Arrays including human, mouse, rat GABRB1 Search Chromatin IP Primers for GABRB1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GABRB1  GeneGlobe Interaction Network for GABRB1
     Regulatory tfbs in GABRB1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for GABRB1 GenScript cDNA clones with any tag delivered in your preferred vector for GABRB1
     GenScript Custom Assay Services for GABRB1 GenScript Custom overexpressing Cell Line Services for GABRB1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Tocris compounds for GABRB1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for GABRB1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     GABRB1 antibodies
     GABRB1 proteins
     GABRB1 lysates
     Antibodies for GABRB1
     See all of Abcam's Antibodies, Kits and Proteins for GABRB1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for GABRB1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB1
     SwitchGear 3'UTR luciferase reporter plasmids for GABRB1
     SwitchGear Promoter luciferase reporter plasmids for GABRB1
     ThermoFisher Antibodies for GABRB1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GABRB1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GABRB1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GABRB1
     LSBio Antibodies in human, mouse, rat for GABRB1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      GABRB1 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4