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

GABRB1 Gene

protein-coding   GIFtS: 68
GCID: GC04P046949

gamma-aminobutyric acid (GABA) A receptor, beta 1
 Explore 11 diseases affiliated with
GABRB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GABRB1    

Aliases
for GABRB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 11 2
GABA(A) Receptor Subunit Beta-12 3
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


Summaries
for GABRB1 gene

(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:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006238.11  
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 plasmid: GABRB1 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

Proteins
for GABRB1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P18505

    • GABRB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000803.2  
    ENSEMBL proteins: 
     ENSP00000426753   ENSP00000295454   ENSP00000426766   ENSP00000440330  
    Reactome Protein details: P18505
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS2465923
    GO:0016021integral to membrane ----


    GABRB1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for GABRB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GABRB1 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 families:
    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


    Function
    for GABRB1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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)

    miRNA
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    8/18 QIAGEN miScript miRNA 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 plasmid: GABRB1 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GABRB1

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

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


    GABRB1 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for GABRB1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1GABA A receptor activation
    		GABA A receptor activation1.00
    		Synaptic Neurotransmission: GABAergic Inhibition0.45
    		Ligand-gated ion channel transport0.48
    		GABA signaling in brain0.26
    2Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    		Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    		Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling1.00
    		Neurophysiological process_Glutamate regulation of Dopamine D1A receptor signaling0.98
    4G Protein Signaling Pathways
    		Signal transduction PKA signaling0.23
    		Signal transduction_PKA signaling0.23
    5Ion channel transport
    		Ion channel transport1.00

    Pathway sources
    See GeneCards unified pathways
    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


    1         Kegg Pathway  (Kegg details for GABRB1):
        Neuroactive ligand-receptor interaction


    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 toxin IEA--


    GABRB1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GABRB1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GABRB1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    MuscimolPotent GABAA agonist[2763-96-4]
    (+)-BicucullinePotent GABAA antagonist[485-49-4]
    IndiplonSubtype-selective GABAA receptor positive allosteric modulator[325715-02-4]
    L-655,708 Selective for alpha5-containing GABAA receptors[130477-52-0]
    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
    Clobazam-- 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

    1 Novoseek 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 

    Transcripts
    for GABRB1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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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    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
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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:

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

    GeneLoc Exon Structure


    Expression
    for GABRB1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTACAAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GABRB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerType1 Off Cone Bipolar CellsBipolar, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)

    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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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB1

    Orthologs
    for GABRB1 gene

    (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 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 80(a)
    		 1 ↔ 1
    		 GL343293.1(256635-301301)
    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
    for GABRB1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GABRB1 gene
    GLRA22  GABRR12  GLRB2  GLRA12  GABRD2  GLRA42  GABRP2  GABRB22  
    GABRQ2  GABRB32  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    GABRR2
    GABRA6    GABRG3    GABRR1    GABRR3    GLRA2    GABRA1

    GABRB1 for paralogs           About GeneDecksing



    Genomic Variants
    for GABRB1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for GABRB1
         3 CNVs: 68711 98705 92077
         1 Indel: 60469
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for GABRB1 gene

    (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
    GABRB1 for disorders           About GeneDecksing

    OMIM gene information: 137190    OMIM disorders: --

    11 diseases for GABRB1:    About MalaCards
    manic-depressive illness    schizophrenia    temporal lobe epilepsy    anorexia nervosa
    alcohol dependence    panic disorder    bipolar disorder    alcoholism
    seizures    cerebritis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for GABRB1:
    Alcohol dependence     Schizoaffective disorder     Autistic disorder
    Genetic Association Database (GAD): GABRB1
    Human Genome Epidemiology (HuGE) Navigator: GABRB1 (17 documents)

    Export disorders for GABRB1 gene to outside databases

    Publications
    for GABRB1 gene

    (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 78):
    (articles sorted by number of sources associating them with GABRB1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy. (PubMed id 16278087)1, 4 Ren L....Shen Y. (2005)
    2. 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)
    3. GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy. (PubMed id 12601092)1, 4 Gambardella A....Quattrone A. (2003)
    4. Exonic variants of the GABA(B) receptor gene and panic disorder. (PubMed id 11324945)1, 4 Sand P.G....Deckert J. (2000)
    5. 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)
    6. 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)
    7. Differential expression of gamma-aminobutyric acidA receptor subunits. (PubMed id 2160058)1, 2 Garrett K.M.... Blume A.J. (1990)
    8. 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)
    9. 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)
    10. 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)

    External Searches for GABRB1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing GABRB1 gene

    (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

    Other Databases showing GABRB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GABRB1 gene

    (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

    Intellectual Property
    for GABRB1 gene

    (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



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