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GABRB1 Gene

protein-coding   GIFtS: 66

GC04P046728
gamma-aminobutyric acid (GABA) A receptor, beta 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Descriptions
GABA(A) receptor subunit beta-1 3
gamma-aminobutyric acid (GABA) A receptor, beta 1 2
gamma-aminobutyric acid A receptor, beta 1 1
External Ids
HGNC: 40811
Entrez Gene: 25602
UniProtKB: P185053
Ensembl: ENSG000001632887
Search outside databases for aliases for GABRB1 gene

Previous GC identifers: GC04P047104 GC04P047342 GC04P046883 GC04P046949 GC04P046874

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

EntrezGene 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]

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

Gene Wiki entry for GABRB1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the GABRB1 gene  

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)

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P046728:     (about GC identifiers)

Start:
46,728,336 bp from pter
End:
47,123,202 bp from pter
Size:
394,867 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000004.10  NT_006238.10  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane
protein. Cell membrane; Multi-pass membrane protein
Secondary accessions: B2R6U7 Q16166 Q8TBK3

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000803.2  

    ENSEMBL proteins: 
    ENSP00000295454 ENSP00000370994 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (GABA A Receptor beta 1)
    Human Recombinant Proteins from Abnova (GABRB1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886 plasma membrane IEA--
    GO:0005887 integral to plasma membrane TAS2465923
    GO:0030054 cell junction IEA--
    GO:0045202 synapse IEA--
    GO:0045211 postsynaptic membrane IEA--
    About this table

    Antibodies for GABRB1: 
    Invitrogen Antibodies for GABRB1
    Millipore Mono- and Polyclonal Antibodies for the study of GABRB1
    Sigma-Aldrich Antibodies for GABRB1
    R&D Systems Antibodies for GABRB1 (GABA-A-R beta 1)
    Antibodies from Abcam (GABA A Receptor beta 1), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibody for GABRB1

    Assays for GABRB1: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of GABRB1
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    5/6 InterPro domains/families (see all 6 ):
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel
     IPR006029 Neu_channel_TM
     IPR006202 Neur_chan_lig_bd


       GeneDecks  GABRB1 for the domains selected above  
    About GeneDecksing

    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 ionic channel (TC 1.A.9) family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (GABRB1)
    Millipore RNAi Products for the Analysis of GABRB1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (GABRB1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000812

                  Applied Biosystems Silencer® siRNAs for GABRB1

                  Sigma-Aldrich siRNA and siRNA Panels for GABRB1  
                         Sigma-Aldrich shRNA for GABRB1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for GABRB1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000812
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000812
                                     untagged cDNA clone in CMV expression vector: NM_000812 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000812

    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)

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004890 GABA-A receptor activity TAS2465923
    GO:0005216 ion channel activity IEA--
    GO:0005230 extracellular ligand-gated ion channel activity IEA--
    GO:0005254 chloride channel activity IEA--
    GO:0030594 neurotransmitter receptor activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


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

       GeneDecks  GABRB1 for the pathways selected above  
    About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  GABRB1  (Your Favorite Gene powered by Ingenuity) 
     GABA Receptor Signaling

       GeneDecks  GABRB1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for GABRB1):
     hsa04080 Neuroactive ligand-receptor interaction

       GeneDecks  GABRB1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  GABRB1 

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0007165 signal transduction TAS2465923
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for GABRB1
    Sigma-Aldrich Small Molecules for GABRB1:
    Antagonist Agonist Allosteric Modulator Inhibitor Ligand

    Compounds for GABRB1 available from Tocris Bioscience
    CompoundAction CAS number
    MuscimolPotent GABAA agonist[2763-96-4]
    (+)-BicucullinePotent GABAA antagonist[485-49-4]
    IndiplonSubtype-selective GABAA receptor positive allosteric modulator[325715-02-4]
    L-655,708Selective for alpha5-containing GABAA receptors[130477-52-0]
    SR 95531 hydrobromideSelective, competitive GABAA receptor antagonist[104104-50-9]
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (GABRB1)
    Millipore RNAi Products for the Analysis of GABRB1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (GABRB1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000812

                  Sigma-Aldrich siRNA and siRNA Panels for GABRB1  
                         Sigma-Aldrich shRNA for GABRB1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000812  

    REFSEQ mRNAs for GABRB1 gene: 

    NM_000812.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000812  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000812
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000812
                                     untagged cDNA clone in CMV expression vector: NM_000812 

    Additional cDNA sequence: 

    AK127001.1 AK225167.1 AK225686.1 AK293691.1 AK296023.1 AK307120.1 AK312720.1 BC022449.1 
    CR614851.1 X14767.1 

    8 DOTS entries:

    DT.100736124  DT.121242475  DT.306766  DT.100651213  DT.95226531  DT.40110657  DT.86844311  DT.97804655 

    24 AceView cDNA sequences:

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

    highest scoring ESTs for GABRB1:

    X14767 AU146340 BC022449 R45230 AK127001 AL539372 AL539373 AU099641 BG704311 BG709494 

    Unigene Cluster for GABRB1:

    Gamma-aminobutyric acid (GABA) A receptor, beta 1
    Hs.27283  [show with all ESTs]
    Unigene Representative Sequence: AK127001


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000295454  ENST00000381582  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    GABRB1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for GABRB1

    1 / 2 / 3

    3 probe-sets matching GABRB1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    35028_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 X14767 1.00 1.00 1.00 1

    207010_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000812 0.60 1.00 0.82 1

    207010_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTTACAAACA

    SOURCE GeneReport for Unigene cluster: Hs.27283

    Expression variation in blood from EXPOLDB for GABRB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for GABRB1 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    GABRB11   -- gamma-aminobutyric acid (GABA) A receptor, beta 1 99.72(n)
    99.79(a)
    461352  XM_001154620.1  XP_001154620.1 
    cow
    (Bos taurus)
    GABRB11   -- gamma-aminobutyric acid (GABA) A receptor, beta 1 92.55(n)
    97.68(a)
    282239  NM_174544.2  NP_776969.1 
    rat
    (Rattus norvegicus)
    Gabrb11   -- gamma-aminobutyric acid (GABA) A receptor, beta 1 91.28(n)
    98.1(a)
    25450  NM_012956.1  NP_037088.1 
    mouse
    (Mus musculus)
    Gabrb11, 5 5 (40.00 cM)5
    gamma-aminobutyric acid (GABA) A receptor, subunit more5
    gamma-aminobutyric acid (GABA-A) receptor, subunit more1
    91.7(n)1
    97.89(a)1
    144001  NM_008069.41  NP_032095.11 
     AW0611325  BC1302585  (see all 8)
    chicken
    (Gallus gallus)
    GABRB11   -- gamma-aminobutyric acid (GABA) A receptor, beta 1 68.23(n)
    71.28(a)
    396288  XM_420267.2  XP_420267.2 
    About this table        Species with no ortholog for GABRB1

    ENSEMBL Gene Tree for GABRB1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for GABRB1 gene
    GABRB22  GABRB32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1999 NCBI SNPs in GABRB1 are shown (see all 1999 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 584)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs100289451,2
    A,C,F,H47123062(+) AAAGAG/AAGAAG 1 -- ut31 trp311Minor allele frequency- A:0.21NA EU EA WA 980
    rs37334691,2
    C,F,H47123447(+) CCAACC/GTGCCA 1 -- ng319Minor allele frequency- N:0.00EA EU WA NA 2130
    rs168602111,2
    F,H47123368(+) ATGTCC/AGTTGT 1 -- ng317Minor allele frequency- A:0.02NA EU EA WA 562
    --
    rs117318341,2
    A,C47123219(+) aaaaaA/Caacat 1 -- ut310--------
    --
    rs38323001,2
    C47123096(+) CTTTT-/TCTAGT 1 -- ut310--------
    rs62891,2
    A,C,F,H,O47103466(+) ACGACA/GGTGCT 1 T/T syn111Minor allele frequency- G:0.23MN NA EU EA WA 864
    rs62901,2
    C,F,H,O47103595(+) TATGCC/TTTTGT 1 A/A syn110Minor allele frequency- T:0.09MN NA EU EA WA 882
    rs62841,2
    C,F,H,O47016976(+) GAGATC/AGAAAG 1 I/I syn112Minor allele frequency- A:0.11MN NS EA NA EU WA 2114
    rs44827371,2
    C,F,H47016947(+) ATCCAC/TTGGAT 1 L/L syn1 ese35Minor allele frequency- T:0.02EU EA WA NA 494
    rs62881,2
    H47122696(+) GACTTG/AACTGA 1 L/L syn1 ese35Minor allele frequency- A:0.00MN EU EA WA 604
    About this table

    HapMap Linkage Disequilibrium images for GABRB1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 137190

    Genetic Association Database: GABRB1
    Human Genome Epidemiology Navigator: GABRB1 (10 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/39 PubMed articles for GABRB1 gene (see all 39 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 2560 HGNC: 4081 AceView: GABRB1 Ensembl:ENSG00000163288 euGenes: HUgn2560
    ECgene: GABRB1 H-InvDB: GABRB1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    Protein Spotlighthttp://www.expasy.org/spotlight/back_issues/sptlt056.shtml
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for GABRB1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for GABRB1-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for GABRB1 Antibodies for GABRB1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for GABRB1 Small molecules for GABRB1
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant & Natural Proteins  

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     Recombinant Proteins
    (GABA A Receptor beta 1)
     Antibodies (GABA A Receptor beta 1)
     Search OriGene for GABRB1
     Tocris compounds for GABRB1




     Drugs for GABRB1
     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for GABRB1

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