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

HEATR6 Gene

protein-coding   GIFtS: 46
GCID: GC17M058120

HEAT repeat containing 6

 Explore 1 disease affiliated with
HEATR6 via our new
 Human Malady Compendium 
Biological research products
for HEATR6
    

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

Aliases
HEAT Repeat Containing 61 2
ABC11 2 3
Amplified In Breast Cancer Protein 12 3
FLJ220871
Amplified In Breast Cancer 12
HEAT Repeat-Containing Protein 62

External Ids:    HGNC: 240761   Entrez Gene: 638972   Ensembl: ENSG000000680977   UniProtKB: Q6AI083   

Export aliases for HEATR6 gene to outside databases

Previous GC identifers: GC17M055476 GC17M053492


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

UniProtKB/Swiss-Prot: HEAT6_HUMAN, Q6AI08
Function: Amplification-dependent oncogene




(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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HEATR6 gene promoter:
         HOXA9   HOXA9B   ISGF-3   Lmo2   STAT5A   HOXA5   IRF-7A   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHEATR6 promoter sequence
   Search SABiosciences Chromatin IP Primers for HEATR6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEATR6


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

Entrez Gene cytogenetic band: 17q23.1   Ensembl cytogenetic band:  17q23.1   HGNC cytogenetic band: 17q23.2

HEATR6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEATR6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M058120:  view genomic region     (about GC identifiers)

Start:
58,120,552 bp from pter      End:
58,156,292 bp from pter
Size:
35,741 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: HEAT6_HUMAN, Q6AI08 (See protein sequence)
Recommended Name: HEAT repeat-containing protein 6  
Size: 1181 amino acids; 128781 Da
Miscellaneous: 17q23 region is one of the most commonly amplified regions in breast cancer and therefore may harbor
genes important for breast cancer development and progression
Sequence caution: Sequence=AAL83912.1; Type=Erroneous initiation; Sequence=BAB15229.1; Type=Erroneous initiation;
Sequence=BAB15348.1; Type=Erroneous initiation;
Secondary accessions: B3KXP3 Q6MZX1 Q6MZY2 Q8TDM9 Q9H6B3 Q9H6M7

Explore the universe of human proteins at neXtProt for HEATR6: NX_Q6AI08

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6AI08

  • HEATR6 Protein expression data from MOPED and PaxDb:    About this image 
    HEATR6 Protein Expression
    REFSEQ proteins: NP_071353.4  
    ENSEMBL proteins: 
     ENSP00000184956   ENSP00000464927   ENSP00000466192   ENSP00000465540   ENSP00000465986  
     ENSP00000465595   ENSP00000465429   ENSP00000468810   ENSP00000465817  

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    Uscn Proteins for HEATR6


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    Uscn ELISAs and CLIAs for HEATR6


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

    HEATR6 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011989 ARM-like
     IPR025283 DUF4042
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q6AI08

    ProtoNet protein and cluster: Q6AI08

    UniProtKB/Swiss-Prot: HEAT6_HUMAN, Q6AI08
    Similarity: Contains 4 HEAT repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEAT6_HUMAN, Q6AI08
    Function: Amplification-dependent oncogene

    Phenotypes:
         1 GenomeRNAi human phenotype for HEATR6:

     Increased G2M DNA content, inc 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HEATR6 

    miRNA
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEATR6


    (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 HEATR6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5 Interacting proteins for HEATR6 (Q6AI082, 3 ENSP000001849564) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF1BP203332, 3MINT-49430 I2D: score=2 
    MYCP011063I2D: score=2 
    DDA1Q9BW613I2D: score=1 
    PTPN11Q061243I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 HEATR6
    Search CenterWatch for drugs/clinical trials and news about HEATR6 / HEAT6 

    (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, Sirion Biotech, 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 HEATR6 gene: 
    NM_022070.4  

    Unigene Cluster for HEATR6:

    HEAT repeat containing 6
    Hs.591183  [show with all ESTs]
    Unigene Representative Sequence: BX640831
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000184956(uc010ddk.1 uc010wos.1 uc002iyk.1) ENST00000585976
    ENST00000587003 ENST00000587314 ENST00000591683 ENST00000590587 ENST00000593228
    ENST00000593097 ENST00000592664 ENST00000591074 ENST00000585712

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HEATR6:
    hsa-miR-1233 hsa-miR-3672
    SwitchGear 3'UTR luciferase reporter plasmidHEATR6 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AF349752.1 AK025740.1 AK026070.1 AK127708.1 AK314655.1 BC119771.1 BC119813.1 BX640819.1 
    BX640831.1 CR627418.1 

    5 DOTS entries:

    DT.412773  DT.95357181  DT.100647616  DT.120923685  DT.205482 

    24/117 AceView cDNA sequences (see all 117):

    AI382890 BU187337 AA133790 AI561172 AI342465 AI497780 BM713511 CA843310 
    AA910077 AI672470 AI290042 BX102066 AI085791 Z38816 BM709661 BC040714 
    AA670100 BM547348 BF223187 BI258798 BU624591 BU957457 CB305526 AI979200 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HEATR6 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a ·
    SP1:                                -     -     -                                                                                                               
    SP2:                                      -     -                                                                                                               
    SP3:                                -     -                                                                                                                     
    SP4:                                -     -     -     -     -                                                                                                   
    SP5:                                                                                                                                                            

    ExUns: 19b ^ 20 ^ 21a · 21b ^ 22a · 22b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:              -                     


    ECgene alternative splicing isoforms for HEATR6

    (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

    HEATR6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCAGGGTTG
    HEATR6 Expression
    About this image
    See HEATR6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HEATR6

    SOURCE GeneReport for Unigene cluster: Hs.591183

    UniProtKB/Swiss-Prot: HEAT6_HUMAN, Q6AI08
    Tissue specificity: Amplified in breast cancer cell lines MCF-7 and BT-474

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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 eukaryotes.

    Orthologs for HEATR6 gene from 8/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Heatr61 , 5 HEAT repeat containing 61, 5 82.92(n)1
    83.83(a)1
      11 (51.23 cM)5
    2170261  NM_145432.31  NP_663407.21 
     837536965 
    chicken
    (Gallus gallus)
    Aves HEATR61 HEAT repeat containing 6 71.55(n)
    70.63(a)
      417661  XM_415906.3  XP_415906.3 
    lizard
    (Anolis carolinensis)
    Reptilia HEATR66
    --
    63(a)
    1 ↔ 1
    GL344172.1(57963-67404)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC539882 hypothetical protein MGC53988 74.84(n)    BC043967.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1723591 zgc:172359 60.04(n)
    57.96(a)
      567838  NM_001114313.1  NP_001107785.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG169891 CG16989 42.5(n)
    32.78(a)
      31026  NM_130504.2  NP_569860.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G381206
    armadillo/beta-catenin-like repeat-containing prot...
    18(a)
    1 ↔ 1
    4(17888519-17896107)
    rice
    (Oryza sativa)
    Liliopsida --
    HEAT repeat family protein, putative, expressed
    22(a)
    1 ↔ 1
    8(3030285-3037468)


    ENSEMBL Gene Tree for HEATR6 (if available)
    TreeFam Gene Tree for HEATR6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/577 NCBI SNPs in HEATR6 are shown (see all 577    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs561795071,2
    C--58120097(+) CTGTGC/TGGCTG 2 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1114064391,2
    C,F--58120148(+) GGCACC/TGTCAG 2 -- ds50012Minor allele frequency- T:0.50NA WA 4
    rs1116913351,2
    C--58120405(+) GGCACC/TGTCAG 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1471453001,2
    --58120427(+) CTGTGC/TGGCTG 1 -- ds50010--------
    rs1113650581,2
    C--58120456(+) CTCGCG/ATCCTG 2 -- ds5001 nc-transcript-variant1Minor allele frequency- A:0.50WA 2
    rs1890322781,2
    --58120568(+) GTTAGA/TTTATT 2 -- ut31 us2k10--------
    rs1429006711,2
    --58120587(+) ACAGAA/TACAAT 2 -- us2k1 ut310--------
    rs1808359151,2
    --58120611(+) ATTCCA/GAAATC 2 -- ut31 us2k10--------
    rs1507977461,2
    --58120615(+) CGAAAC/TCCTTC 2 -- us2k1 ut310--------
    rs1168637051,2
    --58120659(+) AAGCCC/TGTCTG 2 -- us2k1 ut311Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for HEATR6 (58120552 - 58156292 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for HEATR6
         3 CNVs: 0805 102496 4044
         2 Inversions: 37195 37196

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HEATR6
    DNA2.0 Custom Variant and Variant Library Synthesis for HEATR6

    (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

    HEATR6 for disorders           About GeneDecksing

    1 disease for HEATR6:    About MalaCards
    breast cancer

    1 disease from the University of Copenhagen DISEASES database for HEATR6:
    Breast cancer

    Export disorders for HEATR6 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 HEATR6 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with HEATR6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The 17q23 amplicon and breast cancer. (PubMed id 12755490)1, 3 Sinclair C.S....Couch F.J. (2003)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    3. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    9. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (2009)
    10. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 63897 HGNC: 24076 AceView: ABC1 Ensembl:ENSG00000068097 euGenes: HUgn63897
    ECgene: HEATR6 H-InvDB: HEATR6

    (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 HEATR6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HEATR6 gene:
    Search GeneIP for patents involving HEATR6

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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