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AES Gene

protein-coding   GIFtS: 59

GC19M003003
amino-terminal enhancer of split
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)
About This Section

Aliases
AES-1 2
AES-2 2
ESP1 2
GRG 2, 3
GRG5 1, 2
TLE5 1, 2
Descriptions
Amino enhancer of split 3
GRG protein 3
Gp130-associated protein GAM 3
Protein ESP1 3
amino-terminal enhancer of split 2
External Ids
HGNC: 3071
Entrez Gene: 1662
UniProtKB: Q081173
Ensembl: ENSG000001049647
Search outside databases for aliases for AES gene

Previous GC identifers: GC19M003145 GC19M002992

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for AES:
The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila
enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The
encoded protein, which belongs to the groucho/TLE family of proteins, can function as a
homooligomer or as a heteroologimer with other family members to dominantly repress the expression
of other family member genes. Three transcript variants encoding different isoforms have been
found for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: AES_HUMAN, Q08117
Function: Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated
gene expression. May be required for the initiation and maintenance of the differentiated state

(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 AES gene  

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

AES 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 19         GeneLoc Exon Structure

GeneLoc location for GC19M003003:     (about GC identifiers)

Start:
3,003,908 bp from pter
End:
3,013,964 bp from pter
Size:
10,057 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000019.8  NT_011255.14  
(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: AES_HUMAN, Q08117 (See protein sequence)
Recommended Name: Amino-terminal enhancer of split  
Size: 197 amino acids; 21970 Da
Subunit: Homooligomer and heterooligomer with other family members. Binds TCF7 (By similarity).
Binds the NF-kappa-B subunit RELA. Interacts with PHF12
Subcellular location: Nucleus (By similarity)
Secondary accessions: Q12808 Q96TG9 Q9UDY9
Alternative splicing: 2 isoforms:  Q08117-1   Q08117-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_001121.2  NP_945320.1  NP_945321.1  


    ENSEMBL proteins: 
    ENSP00000221561 ENSP00000317537 


    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 (GRG (Groucho homologue))
    Human Recombinant Proteins from Abnova (AES)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    About this table

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

    Assays for AES: 
    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

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

    1 InterPro domain/family:
     IPR005617 TLE_N


       GeneDecks  AES for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q08117

    ProtoNet protein and cluster: Q08117

    UniProtKB/Swiss-Prot: AES_HUMAN, Q08117
    Domain: Lacks the C-terminal WD repeats
    Similarity: Belongs to the WD repeat Groucho/TLE 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:
    Browse Invitrogen for RNAi
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AES)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001130

                  Applied Biosystems Silencer® siRNAs for AES

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

    Clones:Invitrogen Clones for AES
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001130
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001130
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001130 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_198969

    UniProtKB/Swiss-Prot: AES_HUMAN, Q08117
    Function: Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated
    gene expression. May be required for the initiation and maintenance of the differentiated state

    Genatlas biochemistry entry for AES:
    amino-terminal enhancer of split,homologous to Drosophila ESG enhancer of split Groucho,mainly
    expressed in muscle,heart,brain

    9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aes):

    behavior/neurologicalcraniofacialendocrine/exocrine glandgrowth/sizelife span-post-weaning/aging
    limbs/digits/tailnervous systemreproductive systemskeleton

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714 transcription corepressor activity IEA--
    GO:0005515 protein binding IPI11390640
    GO:0030528 transcription regulator 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


    1 Cell Signaling Technology (CST) Pathway for AES: 
     Wnt/b-Catenin Signaling

       GeneDecks  AES for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  AES 


    5/41 Interacting proteins for AES (ENSP000002215613 Q081171, 2) via UniProtKB, MINT, and/or STRING (see all 41 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TLE1Q047241STRING (score=.949) EBI-717810, EBI-711424
    HNRNPABQ997291EBI-717810, EBI-1044873
    STYXL1Q9Y6J81EBI-717810, EBI-1044511
    TLE3Q047261EBI-717810, EBI-1052057
    ATN1P542592MINT-2856829
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501 skeletal system development IEA--
    GO:0006357 regulation of transcription from RNA polymerase II promoter IEA--
    GO:0007275 multicellular organismal development TAS8365415
    GO:0009887 organ morphogenesis TAS9809752
    GO:0016055 Wnt receptor signaling pathway IEA--
    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

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for AES

    (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:
    Browse Invitrogen for RNAi
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AES)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001130

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

    Applied Biosystems Silencer® siRNAs: 

    NM_001130  NM_198969  NM_198970  

    REFSEQ mRNAs for AES gene (3 alternative transcripts): 

    NM_001130.5   NM_198969.1   NM_198970.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001130  NM_198969  NM_198970  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001130
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001130
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001130 

    Additional cDNA sequence: 

    AF072902.1 AF269289.1 AK094591.1 AK095154.1 AK314713.1 BC113735.1 BC113737.1 CR591354.1 
    CR591743.1 CR594247.1 CR594475.1 CR594586.1 CR595893.1 CR596634.1 CR598322.1 CR599584.1 
    CR605502.1 CR606153.1 CR608829.1 CR609469.1 CR613028.1 CR616198.1 CR617074.1 CR622685.1 
    CR625320.1 U04241.1 X73357.1 X73358.1 

    24/42 DOTS entries (see all 42 ):

    DT.95176523  DT.100045190  DT.100858154  DT.91821772  DT.100808380  DT.121500399  DT.87017800  DT.121500449 
    DT.92460433  DT.100858157  DT.100858140  DT.121500435  DT.97863603  DT.100858142  DT.100858148  DT.121500452 
    DT.91900598  DT.92375835  DT.100858151  DT.95277120  DT.100045184  DT.100858139  DT.95277118  DT.97858075 

    24/995 AceView cDNA sequences (see all 995 ):

    AI200348 CR617074 AA485742 NM_198969 AA349921 AI679427 AA911178 AI749936 
    BM789966 BM693746 CB156044 BF477434 AA946689 BM686583 AI383154 AA878074 
    BM824413 CD675600 BQ430553 BG114708 BF002306 CR616198 BQ961816 CR594475 

    highest scoring ESTs for AES:

    AI969192 AK094591 AL534525 AL556422 BE512945 BE615093 BE615671 BE615790 BE615936 BF312908 

    Unigene Cluster for AES:

    Amino-terminal enhancer of split
    Hs.515053  [show with all ESTs]
    Unigene Representative Sequence: AK095154


    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for AES (see all 12 )

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

    About this scheme

    ECgene alternative splicing isoforms for AES

    2 Ensembl transcripts including schematic representations:
    ENST00000221561  ENST00000327141  
    (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

    AES expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for AES

    1 / 2 / 3

    5 probe-sets matching AES gene


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

    41338_at2, 3 U95-A 1 1.00 1.00 0.96 1.01 AI969192 0.80 1.00 0.91 1

    76050_s_at2, 3 U95-E 1 1.00 1.00 0.95 1.17 R79768 0.60 1.00 0.82 1

    41337_at2, 3 U95-A 1 1.00 1.00 0.85 0.82 U04241 0.80 1.00 0.91 1

    217729_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001130 0.60 1.00 0.82 1

    217729_s_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: CACGCAATGC

    SOURCE GeneReport for Unigene cluster: Hs.515053

    Expression variation in blood from EXPOLDB for AES

    UniProtKB/Swiss-Prot: AES_HUMAN, Q08117
    Tissue specificity: Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantly
    expressed in the heart, lung, kidney, brain and liver

    (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 AES gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AES1   -- amino-terminal enhancer of split 83.62(n)
    85.04(a)
    485064  XM_542182.2  XP_542182.2 
    chimpanzee
    (Pan troglodytes)
    AES1   -- amino-terminal enhancer of split 98.74(n)
    98.39(a)
    744806  XM_001153657.1  XP_001153657.1 
    cow
    (Bos taurus)
    AES1   -- amino-terminal enhancer of split 92.56(n)
    99.17(a)
    505375  XM_581653.3  XP_581653.3 
    rat
    (Rattus norvegicus)
    Aes1   -- amino-terminal enhancer of split 86.7(n)
    99.47(a)
    29466  NM_019220.1  NP_062093.1 
    mouse
    (Mus musculus)
    Aes1, 5 10 (43.00 cM)5
    amino-terminal enhancer of split1, 5 86.35(n)1
    99.47(a)1
    147971  NM_010347.31  NP_034477.11 
     AK0193975  AK1318455  (see all 17)
    About this table        Species with no ortholog for AES

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

    Paralogs for AES gene
    TLE62  TLE22  

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


    10/84 NCBI SNPs in AES are shown (see all 84 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 49)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs79381,2
    A,C,F,H3004574(-) CTGACA/GTGTGA 3 -- ut31 ese317Minor allele frequency- G:0.13MN EA NA EU WA 3092
    rs3678251,2
    A,C,F,H3014409(+) agattC/Tctaat 3 -- ng314Minor allele frequency- T:0.31EU EA WA 420
    rs4159451,2
    A,C,H3004326(+) GTGAGT/GGGGGC 3 -- ut31 ese34Minor allele frequency- G:0.02MN EU EA 482
    rs92941,2
    C,F,H3004658(-) TTGCAG/AGCCAC 3 -- ut318Minor allele frequency- A:0.01MN NA EU EA WA 586
    rs4254851,2
    C,F3004802(+) CTCCCT/CGTCCC 3 -- ut31 ese32Minor allele frequency- C:0.37EA MN 1682
    rs37460761,2
    C,F3004722(-) AGCTCG/AGGATT 3 -- ut31 ese31Minor allele frequency- A:0.01EA 1502
    --
    rs4510861,2
    A,C3003630(+) gcctcC/Ttaagt 3 -- ng510--------
    rs10626351,2
    A3004066(-) AAAAAA/GACAAA 3 -- ut310--------
    --
    rs48073931,2
    A3015066(+) GAGACA/GGGTTT 3 -- ng310--------
    rs10425481,2
    A3004315(-) CACCTC/TTGCTA 3 -- ut31 ese31Minor allele frequency- T:0.00MN 184
    About this table

    HapMap Linkage Disequilibrium images for AES (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: 600188

    1 PharmGKB disease relationship for AES gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    About this table

    (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

    10/27 PubMed articles for AES gene (see all 27 ):
    (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: 166 HGNC: 307 AceView: AES Ensembl:ENSG00000104964 euGenes: HUgn166
    ECgene: AES H-InvDB: AES
    (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
    ATLAS Chromosomes in Cancer entry for AES Genetics and Cytogenetics in Oncology and Haematology
    (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 AES:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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


      
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    (GRG (Groucho homologue))
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     Search Tocris compounds for AES




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

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