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

RCBTB1 Gene

protein-coding   GIFtS: 50
GCID: GC13M050106

regulator of chromosome condensation (RCC1) and BTB (POZ)...

 Explore 7 diseases affiliated with
RCBTB1 via our new
 Human Malady Compendium 
Biological research products
for RCBTB1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Regulator Of Chromosome Condensation (RCC1) And BTB (POZ) Domain Containing
Protein 11 2
     GLP2 5
CLLD71 2 3 5     FLJ107161
CLLL71 2     RP11-185C18.12
Chronic Lymphocytic Leukemia Deletion Region Gene 7 Protein2 3     GDP/GTP Exchange Factor (GEF)-Like Protein2
Regulator Of Chromosome Condensation And BTB Domain-Containing Protein 12 3     RCC1 And BTB Domain-Containing Protein 12
CLL Deletion Region Gene 7 Protein2 3     E4.53

External Ids:    HGNC: 182431   Entrez Gene: 552132   Ensembl: ENSG000001361447   OMIM: 6078675   UniProtKB: Q8NDN93   

Export aliases for RCBTB1 gene to outside databases

Previous GC identifers: GC13M049042 GC13M047904 GC13M049004 GC13M030899


(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 RCBTB1:
This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and
bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular
hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps
to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid
malignancies. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RCBT1_HUMAN, Q8NDN9
Function: May be involved in cell cycle regulation by chromatin remodeling

Gene Wiki entry for RCBTB1


(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_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RCBTB1 gene promoter:
         c-Fos   AP-1   JunB   Fra-1   FosB   NF-AT4   JunD   NF-AT2   NF-AT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RCBTB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RCBTB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RCBTB1


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

Entrez Gene cytogenetic band: 13q14   Ensembl cytogenetic band:  13q14.2   HGNC cytogenetic band: 13q14

RCBTB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RCBTB1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M050106:  view genomic region     (about GC identifiers)

Start:
50,106,082 bp from pter      End:
50,159,719 bp from pter
Size:
53,638 bases      Orientation:
minus strand

(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: RCBT1_HUMAN, Q8NDN9 (See protein sequence)
Recommended Name: RCC1 and BTB domain-containing protein 1  
Size: 531 amino acids; 58252 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: Q8IY29 Q969U9
Alternative splicing: 2 isoforms:  Q8NDN9-1   Q8NDN9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RCBTB1: NX_Q8NDN9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NDN9

  • RCBTB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060661.3  
    ENSEMBL proteins: 
     ENSP00000367552   ENSP00000258646   ENSP00000443293  

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    Uscn Proteins for RCBTB1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--


    RCBTB1 for ontologies           About GeneDecksing



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

    RCBTB1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR009091 Reg_csome_cond/b-lactamase_inh
     IPR000210 BTB/POZ-like
     IPR000408 Reg_chr_condens
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q8NDN9

    ProtoNet protein and cluster: Q8NDN9

    UniProtKB/Swiss-Prot: RCBT1_HUMAN, Q8NDN9
    Similarity: Contains 2 BTB (POZ) domains
    Similarity: Contains 6 RCC1 repeats


    (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: RCBT1_HUMAN, Q8NDN9
    Function: May be involved in cell cycle regulation by chromatin remodeling

    miRNA
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    2 GenomeRNAi human phenotypes for RCBTB1:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory 


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RCBTB1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/14 Interacting proteins for RCBTB1 (Q8NDN92, 3 ENSP000002586464) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP1LC3BQ9GZQ83, ENSP000002686074I2D: score=1 STRING: ENSP00000268607
    ATG16L1Q676U53I2D: score=1 
    CLN3Q132863I2D: score=1 
    FYCO1Q9BQS83I2D: score=1 
    GABARAPO951663I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0007049cell cycle IEA--
    GO:0016568chromatin modification IEA--


    RCBTB1 for ontologies           About GeneDecksing



    (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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RCBTB1
    Search CenterWatch for drugs/clinical trials and news about RCBTB1 / RCBT1 

    (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 RCBTB1 gene: 
    NM_018191.3  

    Unigene Cluster for RCBTB1:

    Regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1
    Hs.508021  [show with all ESTs]
    Unigene Representative Sequence: AB209222
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378302(uc001vde.1) ENST00000471984 ENST00000490058 ENST00000258646
    ENST00000546015

    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate RCBTB1 (see all 21):
    hsa-miR-498 hsa-miR-30c hsa-miR-495 hsa-miR-875-3p hsa-miR-3653 hsa-miR-30d hsa-miR-218 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidRCBTB1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB209222.1 AF334406.1 AJ319660.1 AK001578.1 AK090807.1 AK096654.1 AL833821.1 BC038104.2 

    14 DOTS entries:

    DT.415901  DT.91892468  DT.120778527  DT.40286863  DT.100710039  DT.102830072  DT.120778531  DT.91647217 
    DT.92422950  DT.102830073  DT.209705  DT.40131543  DT.91965211  DT.100643675 

    24/175 AceView cDNA sequences (see all 175):

    AA496843 AI968206 AA418095 AI089527 AA228664 AA725338 CD643110 BM727256 
    AV759431 AI634732 AA459630 BU628875 BP375936 BF195846 AI805876 AA489719 
    AU124248 H24667 AA459405 AX746625 H21608 AK090807 BE045495 AI911279 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for RCBTB1 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b
    SP1:                                            -     -           -                       -                 -     -               
    SP2:                                            -     -                                                                           
    SP3:                                                              -                       -                                       
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for RCBTB1

    (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

    RCBTB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAATAAACA

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

    About this image
    See RCBTB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RCBTB1

    SOURCE GeneReport for Unigene cluster: Hs.508021

    UniProtKB/Swiss-Prot: RCBT1_HUMAN, Q8NDN9
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    (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 RCBTB1 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RCBTB11 regulator of chromosome condensation (RCC1) and BTB more 82.55(n)
    89.83(a)
      418868  XM_417063.3  XP_417063.2 
    lizard
    (Anolis carolinensis)
    Reptilia RCBTB16
    --
    87(a)
    1 ↔ 1
    1(137487367-137520571)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC043960.12   -- 76.23(n)    BC043960.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC045877.12   -- 75.77(n)   336007  BC045877.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    --
    48(a)
    47(a)
    many ↔ many
    many ↔ many
    Group11.4(354-2686)
    Group11.4(4669-7022)


    ENSEMBL Gene Tree for RCBTB1 (if available)
    TreeFam Gene Tree for RCBTB1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RCBTB1 gene
    SERGEF2  RCBTB22  IBTK2  WBSCR162  
    1 SIMAP similar gene for RCBTB1 using alignment to 1 protein entry:     RCBT1_HUMAN:
    RCBTB2

    RCBTB1 for paralogs           About GeneDecksing



    (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

    10/1172 NCBI SNPs in RCBTB1 are shown (see all 1172    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1480131711,2
    --50105599(+) ACAACC/TTAGAT 1 -- ds50010--------
    rs1871905891,2
    --50105663(+) TCTAAG/TGTTGC 1 -- ds50010--------
    rs1928250221,2
    --50105704(+) AGTAAC/TGCTCA 1 -- ds50010--------
    rs49416441,2
    C,F,A,--50105705(+) GTAATG/ACTCAC 1 -- ds50017Minor allele frequency- A:0.24WA CSA NA EA 365
    rs1173081431,2
    --50105753(+) TAACAC/TGCCAG 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs79895041,2
    C,F,A,--50105782(+) GGCCCA/GAGGGT 1 -- ds50017Minor allele frequency- G:0.48NA WA EA 366
    rs1836329211,2
    --50105787(+) GAGGGC/TTGGGG 1 -- ds50010--------
    rs95628921,2
    C,F,H,--50105858(+) TTCCCC/TATTCT 1 -- ds500110Minor allele frequency- T:0.10NS EA NA 1074
    rs49428381,2
    C,F,A,--50105907(+) GTCTCT/AATGAA 1 -- ds50018Minor allele frequency- A:0.48NA WA EA 368
    rs49428391,2
    C,F,A,H,--50105954(+) TATTTG/TTCTGT 1 -- ds500111Minor allele frequency- T:0.49NS EA NA WA 782

    HapMap Linkage Disequilibrium report for RCBTB1 (50106082 - 50159719 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RCBTB1: --

    SABiosciences Cancer Mutation PCR Assays
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    (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

    RCBTB1 for disorders           About GeneDecksing

    OMIM gene information: 607867   
    OMIM disorders: 103780  
    7 diseases for RCBTB1:    About MalaCards
    chronic lymphocytic leukemia    lymphocytic leukemia    beta-glycopyranoside tasting    leukemia
    alcohol dependence    alcoholism    asthma

    Human Genome Epidemiology (HuGE) Navigator: RCBTB1 (2 documents)

    Export disorders for RCBTB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RCBTB1 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with RCBTB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia. (PubMed id 11306461)1, 2, 3, 9 Mabuchi H.... Croce C.M. (2001)
    2. 13q deletion in chronic lymphocytic leukemia: characterization of E4.5, a novel chromosome condensation regulator-like guanine nucleotide exchange factor. (PubMed id 14565662)1, 2, 9 Solomou E.E.... Panayiotidis P. (2003)
    3. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. Clld7, a candidate tumor suppressor on chromosome 13q 14, regulates pathways of DNA damage/repair and apoptosis. (PubMed id 20926398)1 Zhou X. and MA1nger K. (2010)
    8. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    9. A multi-centre study of candidate genes for wheeze an d allergy: the International Study of Asthma and Allergies in Childhood Phase 2 . (PubMed id 20085599)1 Genuneit J....Moffatt M.F. (2009)
    10. The ubiquitin conjugating enzyme, UbcM2, engages in no vel interactions with components of cullin-3 based E3 ligases. (PubMed id 19256485)1 Plafker K.S....Plafker S.M. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55213 HGNC: 18243 AceView: RCBTB1 Ensembl:ENSG00000136144 euGenes: HUgn55213
    ECgene: RCBTB1 H-InvDB: RCBTB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RCBTB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RCBTB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
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    Patent Information for RCBTB1 gene:
    Search GeneIP for patents involving RCBTB1

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