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RAB23 Gene

protein-coding   GIFtS: 60

GC06M057161
RAB23, member RAS oncogene family
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    

Aliases &
Descriptions
for RAB23

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
DKFZp781H0695 2
HSPC137 2
MGC8900 2
OTTHUMP00000016667 2
OTTHUMP00000040021 2
Descriptions
RAB family small GTP binding protein RAB 23 2
RAB23, member RAS oncogene family 2
Ras-related protein Rab-23 2
External Ids
HGNC: 142631
Entrez Gene: 517152
UniProtKB: Q9ULC33
Ensembl: ENSG000001122107
Search outside databases for aliases for RAB23 gene

Previous GC identifers: GC06M057055 GC06M057100

Summaries
for RAB23

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

 EntrezGene summary for RAB23:
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It may be
involved in small GTPase mediated signal transduction and intracellular protein transportation.
Alternative splicing occurs at this locus and two transcript variants encoding the same protein
have been identified. [provided by RefSeq]

Gene Wiki entry for RAB23

Genomic Location
for RAB23

(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 RAB23 gene  

Entrez Gene cytogenetic band: 6p11   Ensembl cytogenetic band:  6p12.1   HGNC cytogenetic band: 6p12.1

RAB23 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 6         GeneLoc Exon Structure

GeneLoc location for GC06M057161:     (about GC identifiers)

Start:
 57,161,540 bp from pter
End:
 57,195,037 bp from pter
Size:
 33,498 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000006.10  NT_007592.14  

Proteins
for RAB23

(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)
About This Section

 UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3 (See protein sequence)
Recommended Name: Ras-related protein Rab-23  
Size: 237 amino acids; 26659 Da
Subcellular location: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential)
Secondary accessions: B2R9I5 Q8NI06 Q9P023

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_057361.3  NP_899050.1  


    ENSEMBL proteins: 
    ENSP00000341643 ENSP00000320413 


    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 (RAB23)
    Human Recombinant Proteins from Abnova (RAB23)
                  OriGene Purified Recombinant Human Protein: RAB23 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886 plasma membrane IEA--
    About this table

    Antibodies for RAB23: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for RAB23
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (RAB23), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (RAB23)
    Novus Biologicals Antibodies for RAB23

    Assays for RAB23: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for RAB23

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro domains/families:
     IPR001806 Ras_GTPase
     IPR005225 Small_GTP_bd
     IPR003579 GTPase_Rab
     IPR013753 Ras
     IPR015593 Rab23


       GeneDecks  RAB23 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9ULC3

    ProtoNet protein and cluster: Q9ULC3

    1 Blocks protein family: IPB001806 Transforming protein P21 RAS signature

    UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3
    Similarity: Belongs to the small GTPase superfamily. Rab family

    Gene Function
    for RAB23

    (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 (RAB23)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (RAB23)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_016277

                  Applied Biosystems Silencer® siRNAs for RAB23

                  Sigma-Aldrich siRNA for RAB23  
                         Sigma-Aldrich shRNA for RAB23  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for RAB23
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_016277
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_016277
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_016277 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_016277

    4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rab23):

    lethality-prenatal/perinatallimbs/digits/tailnervous systemvision/eye

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0005525 GTP binding IEA--
    About this table

    Pathways & Interactions
    for RAB23

    (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


    1 Kegg Pathway  (Kegg details for RAB23):
     hsa04340 Hedgehog signaling pathway

       GeneDecks  RAB23 for the pathways selected above  
    About GeneDecksing

    5 Interacting proteins for RAB23 (ENSP000003204133) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMOENSP000002493733STRING (score=.966)
    GLI1ENSP000002286823STRING (score=.946)
    GLI2ENSP000003545863STRING (score=.944)
    SHHENSP000002972613STRING (score=.838)
    --ENSP000002655263STRING (score=.967)
    About this table

    5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165 signal transduction IEA--
    GO:0007264 small GTPase mediated signal transduction IEA--
    GO:0007399 nervous system development IEA--
    GO:0015031 protein transport IEA--
    GO:0021513 spinal cord dorsal/ventral patterning IEA--
    About this table

    Drugs & Compounds
    for RAB23

    (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 RAB23
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for RAB23

    Transcripts
    for RAB23

    (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 (RAB23)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (RAB23)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_016277

                  Sigma-Aldrich siRNA for RAB23  
                         Sigma-Aldrich shRNA for RAB23  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_016277  NM_183227  

    REFSEQ mRNAs for RAB23 gene (2 alternative transcripts): 

    NM_016277.3   NM_183227.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_016277  NM_183227  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_016277
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_016277
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_016277 

    Additional cDNA sequence: 

    AB025427.1 AB034244.1 AF161486.1 AF498951.1 AK311123.1 AK313796.1 AY585189.1 BC015021.1 
    CR621808.1 CR749371.1 

    7 DOTS entries:

    DT.100686704  DT.40217313  DT.92421553  DT.100784040  DT.121390121  DT.121389888  DT.97809189 

    24/156 AceView cDNA sequences (see all 156 ):

    AI189602 AI699282 AL047421 AI721188 AA779313 AI742498 AY585189 AI810826 
    W60745 AA694297 BF939214 BQ437228 AI670097 NM_183227 AI417487 AA705300 
    AW069459 AA034020 AI684848 AA233336 AI699794 CB134602 AI095486 AA150152 

    highest scoring ESTs for RAB23:

    AF161486 BC015021 BQ067579 BU190017 BU509530 BU521540 AB025427 AB034244 AF498951 AI742498 

    Unigene Cluster for RAB23:

    RAB23, member RAS oncogene family
    Hs.555016  [show with all ESTs]
    Unigene Representative Sequence: NM_016277


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RAB23 (see all 6 )

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c
    SP1:                          -     -     -                                                               
    SP2:                                                                                                      
    SP3:                          -     -     -     -     -     -                                             
    SP4:              -     -     -     -     -                                                               
    SP5:                                      -                                                               

    About this scheme

    ECgene alternative splicing isoforms for RAB23

    2 Ensembl transcripts including schematic representations:
    ENST00000344445  ENST00000317483  

    Expression
    for RAB23

    (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

    RAB23 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for RAB23

    1 / 2 / 3

    6 probe-sets matching RAB23 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    58688_at2, 3 U95-B 1 1.00 1.00 0.85 1.26 AI742498 0.60 1.00 0.82 1

    		71954_f_at*2, 3 U95-D 1 0.88 1.00 0.56 0.75 AI884687 0.20 0.33 0.27 2

    		223463_at2, 3 U133-B 1 1.00 1.00 -- -- AF161486 0.80 1.00 0.91 1

    		220955_x_at2, 3 U133-A 1 1.00 1.00 -- -- NM_016277 0.60 1.00 0.82 1

    		223463_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		220955_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  RAB23 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AAGTCATTTT

    SOURCE GeneReport for Unigene cluster: Hs.555016

    Orthologs
    for RAB23

    (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 RAB23 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 RAB231   -- RAB23, member RAS oncogene family 93.81(n)
    97.05(a)    		 481854  XM_538975.2  XP_538975.2 
    chimpanzee
    (Pan troglodytes)    		 RAB231   -- RAB23, member RAS oncogene family 99.44(n)
    99.58(a)    		 472043  XM_001158655.1  XP_001158655.1 
    rat
    (Rattus norvegicus)    		 Rab231   -- RAB23, member RAS oncogene family 87.48(n)
    93.67(a)    		 367242  XM_346033.3  XP_346034.3 
    mouse
    (Mus musculus)    		 Rab231, 5 1 (18.50 cM)5
    		 RAB23, member RAS oncogene family1, 5 86.92(n)1
    93.25(a)1    		 193351  NM_008999.31  NP_033025.21 
     AB2326185  AI8463855  (see all 18)
    chicken
    (Gallus gallus)    		 RAB231   -- RAB23, member RAS oncogene family 80.87(n)
    88.19(a)    		 421879  XM_419896.2  XP_419896.1 
    About this table        Species with no ortholog for RAB23

    ENSEMBL Gene Tree for RAB23

    Paralogs
    for RAB23

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for RAB23 gene
    RAB9A2  RAB9B2  RAB7A2  

    SNPs/Variants
    for RAB23

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


    10/85 NCBI SNPs in RAB23 are shown (see all 85 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 53)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 6 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs10404611,2
    		A,C,F,H,O57163313(+) GGTACC/TTGAAT 2 G/S mis1 ese316Minor allele frequency- T:0.10MN EU EA WA NA 1524
    rs1826621,2
    		A,C,F,H57161967(+) TGATTC/TTGTAT 2 -- ut31 ese315Minor allele frequency- T:0.02EA NA MN EU WA 1228
    rs113981,2
    		A,C,F,H57161906(-) TTGTCA/GCTTGG 2 -- ut31 ese313Minor allele frequency- N:0.00MN NA EU EA WA 1238
    rs14115781,2
    		F,H,O57162802(+) AGATTC/GAATAC 2 -- ut31 ese35Minor allele frequency- G:0.11MN EU EA WA 602
    rs93826891,2
    		A,F,H57161478(+) AATAAG/ACATTT 2 -- ng514Minor allele frequency- A:0.17EU EA WA 372
    rs119692001,2
    		C,H57161512(+) GCCAGA/GTCATT 2 -- ng514Minor allele frequency- G:0.00EU EA WA 420
    rs28402621,2
    		H57163074(+) AAGCAC/ATGCAG 2 -- ut314Minor allele frequency- A:0.00EU EA WA 420
    --
    rs168883781,2
    		F57162407(+) ATCTAC/TGCTGT 2 -- ut31 ese33Minor allele frequency- T:0.01NA 142
    rs45590911,2
    		H57163125(+) GCAAAG/TTCTGC 2 -- ut31 ese34Minor allele frequency- T:0.00EU EA WA 420
    rs94757911,2
    		H57195156(+) TTTCCG/AGGCGC 2 -- ng311Minor allele frequency- A:0.00WA 120
    About this table

    HapMap Linkage Disequilibrium images for RAB23 (up to first 250kb)

    Disorders & Mutations
    for RAB23

    (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: 606144   disorders: 201000  

    UniProtKB/Swiss-Prot: RAB23_HUMAN, Q9ULC3

  • Defects in RAB23 are the cause of Carpenter syndrome [MIM:201000]; also known as
    acrocephalopolysyndactyly type 2 (ACPS2). Carpenter syndrome is characterized by craniosynostosis,
    polysyndactyly, obesity, and cardiac defects. Inheritance is autosomal recessive

    • Human Gene Mutation Database: RAB23

    Medical News
    for RAB23

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

    		   --

    Publications
    for RAB23

    (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

    		10/13 PubMed articles for RAB23 gene (see all 13 ):

    Search for RAB23

    (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)

    Genome Databases showing RAB23

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 51715 HGNC: 14263 AceView: RAB23 Ensembl:ENSG00000112210 euGenes: HUgn51715
    ECgene: RAB23 H-InvDB: RAB23

    Other Databases showing RAB23

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing RAB23

    (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
    ATLAS Chromosomes in Cancer entry for RAB23 Genetics and Cytogenetics in Oncology and Haematology

    Licensable Technologies
    for RAB23

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for RAB23

    (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 RAB23:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for RAB23-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 RAB23 Antibodies for RAB23
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for RAB23 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant & Natural Proteins  

     Recombinant Proteins (RAB23)
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     Custom Service for Mouse Mab
     Custom Service for Rabbit Pab from Full-length Protein
      
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     Recombinant Proteins
    (RAB23)
     Antibodies (RAB23)
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for RAB23




     Drugs for RAB23
     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for RAB23

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