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

OSTF1 Gene

protein-coding   GIFtS: 55
GCID: GC09P077703

osteoclast stimulating factor 1

 Explore 4 diseases affiliated with
OSTF1 via our new
 Human Malady Compendium 
Biological research products
for OSTF1
    

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

Aliases
Osteoclast Stimulating Factor 11 2
OSF1 2 5
SH3P21 2 5
BA235O14.11
Osteoclast-Stimulating Factor 12

External Ids:    HGNC: 85101   Entrez Gene: 265782   Ensembl: ENSG000001349967   OMIM: 6101805   UniProtKB: Q928823   

Export aliases for OSTF1 gene to outside databases

Previous GC identifers: GC09P068747 GC09P069560 GC09P071273 GC09P073160 GC09P074933 GC09P076893 GC09P047530


(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 OSTF1:
Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast
formation and bone resorption (Reddy et al., 1998 (PubMed 10092216)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: OSTF1_HUMAN, Q92882
Function: Induces bone resorption, acting probably through a signaling cascade which results in the secretion of
factor(s) enhancing osteoclast formation and activity

Gene Wiki entry for OSTF1


(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_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OSTF1 gene promoter:
         LHX3b/Lhx3b   USF1   Pbx1a   NCX/Ncx   USF2   USF-1:USF-2   Gfi-1   POU2F1   USF-1   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOSTF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for OSTF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OSTF1


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

Entrez Gene cytogenetic band: 9q13-q21.2   Ensembl cytogenetic band:  9q21.13   HGNC cytogenetic band: 9q13-q21.2

OSTF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OSTF1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P077703:  view genomic region     (about GC identifiers)

Start:
77,703,398 bp from pter      End:
77,762,181 bp from pter
Size:
58,784 bases      Orientation:
plus 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: OSTF1_HUMAN, Q92882 (See protein sequence)
Recommended Name: Osteoclast-stimulating factor 1  
Size: 214 amino acids; 23787 Da
Subunit: Interacts with SRC and SMN1. Interacts with FASLG
Subcellular location: Cytoplasm (Probable)
4 PDB 3D structures from and Proteopedia for OSTF1:
1X2K (3D)        1ZLM (3D)        3EHQ (3D)        3EHR (3D)    
Secondary accessions: Q5W126 Q96IJ4

Explore the universe of human proteins at neXtProt for OSTF1: NX_Q92882

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92882

  • OSTF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036515.4  
    ENSEMBL proteins: 
     ENSP00000340836  

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    Uscn Proteins for OSTF1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular TAS10092216
    GO:0005737cytoplasm IEA--


    OSTF1 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

    OSTF1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000108 p67phox
     IPR001452 SH3_domain
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q92882

    ProtoNet protein and cluster: Q92882

    2 Blocks protein families:
    IPB001452 SH3 domain signature
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: OSTF1_HUMAN, Q92882
    Domain: The SH3 domain mediates interaction with SMN1
    Similarity: Contains 3 ANK repeats
    Similarity: Contains 1 SH3 domain


    (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: OSTF1_HUMAN, Q92882
    Function: Induces bone resorption, acting probably through a signaling cascade which results in the secretion of
    factor(s) enhancing osteoclast formation and activity

         Genatlas biochemistry entry for OSTF1:
    osteoclast stimulating factor 1,indirectly enhancing osteoclast formation and osteoclastic bone resorption through the
    cellular signal transduction cascade, possibly through its interactions with c-Src or other Src-related proteins

    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017124SH3 domain binding IEA--


    OSTF1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for OSTF1:
     Decreased number of cells in m 


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for OSTF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/18 Interacting proteins for OSTF1 (Q928822, 3 ENSP000003408364) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3, ENSP000003700834MINT-14054 MINT-14052 MINT-14053 I2D: score=2 STRING: ENSP00000370083
    SMN2Q166372, 3, ENSP000003701194MINT-14054 MINT-14052 MINT-14053 I2D: score=2 STRING: ENSP00000370119
    GAPDHP044062, 3, ENSP000002292394MINT-8256393 I2D: score=2 STRING: ENSP00000229239
    MED28Q9H2042, 3, ENSP000002373804MINT-7041728 I2D: score=1 STRING: ENSP00000237380
    MAPK6Q166592, 3MINT-8261582 I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001503ossification TAS10092216
    GO:0007165signal transduction TAS10092216


    OSTF1 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 OSTF1
    Search CenterWatch for drugs/clinical trials and news about OSTF1 

    (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 OSTF1 gene: 
    NM_012383.4  

    Unigene Cluster for OSTF1:

    Osteoclast stimulating factor 1
    Hs.494192  [show with all ESTs]
    Unigene Representative Sequence: NM_012383
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000346234(uc004ajv.4 uc004ajx.4)

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    Additional cDNA sequence: 

    AK222596.1 AK291511.1 BC007459.1 U63717.1 

    6 DOTS entries:

    DT.413651  DT.40199021  DT.121150202  DT.121150248  DT.100708428  DT.121150230 

    24/90 AceView cDNA sequences (see all 90):

    BF436135 CR601709 BF435285 AW296380 T10745 Z44697 CR594571 BM726350 
    BX476325 BM680954 BG757706 BQ129388 BG255151 BE858896 BE697863 AI400203 
    BX395127 BG679831 T34430 BI013189 CA489883 CN483201 AI471111 AA528165 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for OSTF1    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c
    SP1:                    -                                                                     
    SP2:                                                                                          
    SP3:                    -     -                                                               


    ECgene alternative splicing isoforms for OSTF1

    (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

    OSTF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCTACCAATG

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

    About this image

    OSTF1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See OSTF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OSTF1

    SOURCE GeneReport for Unigene cluster: Hs.494192

    UniProtKB/Swiss-Prot: OSTF1_HUMAN, Q92882
    Tissue specificity: Ubiquitously expressed. Present in osteoclasts (at protein level)

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    In Situ
    Assay Products:
     

     
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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 OSTF1 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ostf11 , 5 osteoclast stimulating factor 11, 5 88.16(n)1
    96.26(a)1
      19 (13.17 cM)5
    204091  NM_017375.31  NP_059071.11 
     185793285 
    chicken
    (Gallus gallus)
    Aves OSTF11 osteoclast stimulating factor 1 81.83(n)
    90.5(a)
      427258  NM_001031426.1  NP_001026597.1 
    lizard
    (Anolis carolinensis)
    Reptilia OSTF16
    --
    91(a)
    1 ↔ 1
    2(46842472-46855190)
    African clawed frog
    (Xenopus laevis)
    Amphibia sh3d3-prov2 osteoclast stimulating factor 1 78.1(n)    BC043796.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005379731 osteoclast-stimulating factor 1-like 73.21(n)
    81.31(a)
      100537973  XM_003198582.1  XP_003198630.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y106G6H.143
    CELE_Y106G6H.141
    Src homology domain 3 \; Ank repeat3
    Protein Y106G6H.141
    48(a)3
    53.93(n)1
    50.94(a)1
      I(10480361-10481443)3
    1729261  NM_060337.21  NP_492738.11 


    ENSEMBL Gene Tree for OSTF1 (if available)
    TreeFam Gene Tree for OSTF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OSTF1 gene
    ACBD62  
    4 SIMAP similar genes for OSTF1 using alignment to 1 protein entry:     OSTF1_HUMAN:
    SH3GL2    ARHGEF7    SH3GL1    ITSN1

    OSTF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for OSTF1
    PGOHUM00000239937


    (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

    10/1104 NCBI SNPs in OSTF1 are shown (see all 1104    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1856664921,2
    --77701440(+) TAACCC/TTAAGT 4 -- us2k1 int10--------
    rs776853281,2
    C,F,--77701462(+) TTTTTT/AAAAAT 4 -- int1 us2k11Minor allele frequency- A:0.03NA 120
    rs1486272651,2
    --77701642(+) ATGTGC/GTCTTC 4 -- int1 us2k10--------
    rs779912851,2
    C,F,--77701702(+) CAGGAC/TTTCTT 4 -- int1 us2k13Minor allele frequency- T:0.12WA NA EA 358
    rs22086881,2
    C,F,A,--77701828(+) GGTTTG/TTTTTT 4 -- us2k1 int1 trp34Minor allele frequency- T:0.38NA WA 8
    rs1455716361,2
    --77701883(+) GTGGCA/GCAATC 4 -- us2k1 int10--------
    rs37581891,2
    C,F,H,--77701908(+) CCTCCG/TCCTTC 4 -- us2k1 int14Minor allele frequency- T:0.50NA WA 8
    rs120016441,2
    C,F,H,--77701963(+) actacT/Aggcgt 4 -- int1 us2k11Minor allele frequency- A:0.50NA 4
    rs37581901,2
    C,F,H,--77702183(+) CAGTTT/ATTTCT 4 -- int1 us2k1 tfbs3 trp39Minor allele frequency- A:0.12NS EA NA WA 780
    rs111442221,2
    C,F,--77702301(+) TAGATC/GAGGGG 4 -- int1 us2k18Minor allele frequency- G:0.30NA WA CSA EA 368

    HapMap Linkage Disequilibrium report for OSTF1 (77703398 - 77762181 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for OSTF1: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for OSTF1

    (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

    OSTF1 for disorders           About GeneDecksing

    OMIM gene information: 610180    OMIM disorders: --

    4 diseases for OSTF1:    About MalaCards
    spinal muscular atrophy    muscular atrophy    xerophthalmia    cholesteatoma

    Human Genome Epidemiology (HuGE) Navigator: OSTF1 (3 documents)

    Export disorders for OSTF1 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 OSTF1 gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with OSTF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of a cDNA clone encoding a novel peptide (OSF) that enhances osteoclast formation and bone resorption. (PubMed id 10092216)1, 2, 3 Reddy S.V.... Roodman G.D. (1998)
    2. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation. (PubMed id 11551898)1, 2 Kurihara N.... Reddy S.V. (2001)
    7. Structure of the SH3 domain of human osteoclast-stimulating factor at atomic resolution. (PubMed id 16946461)1, 9 Chen L....Meehan E.J. (2006)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. Comprehensive analysis of interactions between the Src -associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. (PubMed id 22745667)1 Asbach B....Wagner R. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26578 HGNC: 8510 AceView: OSTF1 Ensembl:ENSG00000134996 euGenes: HUgn26578
    ECgene: OSTF1 H-InvDB: OSTF1

    (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 OSTF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OSTF1 gene:
    Search GeneIP for patents involving OSTF1

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