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

FBXL13 Gene

protein-coding   GIFtS: 45
GCID: GC07M102453

F-box and leucine-rich repeat protein 13

  Search for FBXL13
in our new
 Human Malady Compendium 
Biological research products
for FBXL13
    

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

Aliases
F-Box And Leucine-Rich Repeat Protein 131 2 3
Fbl131 2
MGC216361
F-Box/LRR-Repeat Protein 132
FBL133

External Ids:    HGNC: 216581   Entrez Gene: 2222352   Ensembl: ENSG000001610407   OMIM: 6090805   UniProtKB: Q8NEE63   

Export aliases for FBXL13 gene to outside databases

Previous GC identifers: GC07M102014 GC07M102047 GC07M102240 GC07M096815


(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 FBXL13:
Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif.
SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as
protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination
targets through other protein interaction domains (Jin et al., 2004 (PubMed 15520277)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: FXL13_HUMAN, Q8NEE6
Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (By
similarity)




(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_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBXL13 gene promoter:
         GR   STAT1   Zic1   GR-alpha   Nkx5-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FBXL13 promoter sequence
   Search SABiosciences Chromatin IP Primers for FBXL13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXL13


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

FBXL13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL13 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M102453:  view genomic region     (about GC identifiers)

Start:
102,453,308 bp from pter      End:
102,715,288 bp from pter
Size:
261,981 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 101,813,674-102,075,654     

(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: FXL13_HUMAN, Q8NEE6 (See protein sequence)
Recommended Name: F-box/LRR-repeat protein 13  
Size: 735 amino acids; 83924 Da
Subunit: Directly interacts with SKP1 and CUL1 (By similarity)
Sequence caution: Sequence=CAD28506.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: C9J565 C9J566 Q6UVW7 Q6UVW8 Q75MN5 Q86UJ5 Q8N7Y4 Q8TCL2 Q8WUF9 Q8WUG0
Alternative splicing: 4 isoforms:  Q8NEE6-1   Q8NEE6-2   Q8NEE6-3   Q8NEE6-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FBXL13: NX_Q8NEE6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NEE6

  • FBXL13 Protein expression data from MOPED and PaxDb:    About this image 
    FBXL13 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001104508.1  NP_659469.3  

    ENSEMBL proteins: 
     ENSP00000368607   ENSP00000405434   ENSP00000388608   ENSP00000321927   ENSP00000409716  
     ENSP00000391550   ENSP00000390126   ENSP00000377367   ENSP00000368610   ENSP00000368608  

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    Uscn Proteins for FBXL13


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

    FBXL13 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR006553 Leu-rich_rpt_Cys-con_subtyp
     IPR001810 F-box_dom_cyclin-like

    Graphical View of Domain Structure for InterPro Entry Q8NEE6

    ProtoNet protein and cluster: Q8NEE6

    UniProtKB/Swiss-Prot: FXL13_HUMAN, Q8NEE6
    Similarity: Contains 1 F-box domain
    Similarity: Contains 17 LRR (leucine-rich) 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: FXL13_HUMAN, Q8NEE6
    Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (By
    similarity)

    Phenotypes:
         3 GenomeRNAi human phenotypes for FBXL13:

     Increased G1 DNA content  Increased cell death HMECs cel  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FBXL13 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXL13


    (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 FBXL13

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

    5/80 Interacting proteins for FBXL13 (Q8NEE62 ENSP000003219274) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGO1Q9UL182, ENSP000003623004MINT-6488590 STRING: ENSP00000362300
    ATP5C1P365422MINT-6488590
    DHX15O431432MINT-6488590
    DHX30Q7L2E32MINT-6488590
    DHX36Q9H2U12MINT-6488590
    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 FBXL13
    Search CenterWatch for drugs/clinical trials and news about FBXL13 / FXL13 

    (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 FBXL13 gene (2 alternative transcripts): 
    NM_001111038.1  NM_145032.3  

    Unigene Cluster for FBXL13:

    F-box and leucine-rich repeat protein 13
    Hs.660029  [show with all ESTs]
    Unigene Representative Sequence: NM_145032
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379305 ENST00000448002 ENST00000436908 ENST00000313221 ENST00000456695
    ENST00000480422 ENST00000455112 ENST00000477915 ENST00000468216 ENST00000471074(uc003vav.2)
    ENST00000440067 ENST00000393772(uc003vaq.2 uc003vas.2) ENST00000379308(uc010lir.1 uc003var.2)
    ENST00000379306(uc010liq.1)

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    Clone
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    Additional cDNA sequence: 

    AK021560.1 AK095387.1 AK097537.1 AL713709.1 AY359238.1 AY359239.1 BC020572.2 BC020575.2 
    BC026121.1 BC031285.1 

    9 DOTS entries:

    DT.40291861  DT.97836046  DT.91756103  DT.91680332  DT.92043870  DT.75164045  DT.102842563  DT.40265996 
    DT.91819595 

    24/30 AceView cDNA sequences (see all 30):

    BC020572 AK097537 AL713709 BC020575 CA428958 NM_145032 BE619161 BC031285 
    BG717734 AA515555 BX956914 BG723564 BG167998 AY359238 AK095387 BG035396 
    BQ214016 BP371079 AY359239 BC026121 BP371152 BI562703 BM470112 BG722545 

    GeneLoc Exon Structure


    (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

    FBXL13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGATAAGAG
    FBXL13 Expression
    About this image

    FBXL13 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FBXL13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBXL13

    SOURCE GeneReport for Unigene cluster: Hs.660029
        SABiosciences Custom PCR Arrays for FBXL13
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXL13

    (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 FBXL13 gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FBXL136
    Uncharacterized protein
    42(a)
    1 ↔ 1
    1(13802183-13884042)
    lizard
    (Anolis carolinensis)
    Reptilia FBXL136
    --
    53(a)
    1 ↔ 1
    5(95236944-95262290)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EBF11 EIN3-binding F-box protein 1 39.41(n)
    27.07(a)
      817087  NM_128106.3  NP_565597.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g02009001 hypothetical protein 39.39(n)
    25.37(a)
      4328647  NM_001052757.1  NP_001046222.1 


    ENSEMBL Gene Tree for FBXL13 (if available)
    TreeFam Gene Tree for FBXL13 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBXL13 gene
    FBXL172  FBXL22  FBXL202  ENSG000002371022  FBXL162  FBXL72  AMN12  LRRC292  
    FBXL152  FBXL42  FBXL142  
    1 SIMAP similar gene for FBXL13 using alignment to 4 protein entries:     FXL13_HUMAN (see all proteins):
    FBXL2

    FBXL13 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

    10/3521 NCBI SNPs in FBXL13 are shown (see all 3521    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1925553721,2
    --102452860(+) AGACAC/TTGCAG 2 -- ds50010--------
    rs1513152021,2
    --102452885(+) TTCAGA/GTAGTT 2 -- ds50010--------
    rs173960291,2
    C,F,H--102452988(+) GTCTGG/AAAACC 2 -- ds500112Minor allele frequency- A:0.03NA NS EA 1066
    rs1832237881,2
    --102453084(+) TTATTA/CCCCTG 2 -- ds50010--------
    rs1169820231,2
    C,F--102453209(+) TGTAGA/GTTTTA 2 -- ds50011Minor allele frequency- G:0.03NA 120
    rs1879592341,2
    --102453312(+) TGAGAC/TGGAGT 2 -- ut310--------
    rs102480821,2
    C--102453331(+) gtcgcC/Tgaggc 2 -- ut310--------
    rs1921945251,2
    --102453376(+) CCTCCA/GCCTCT 2 -- ut310--------
    rs1384958501,2
    --102453450(+) ACACCC/TGGCTA 2 -- ut310--------
    rs1412095341,2
    --102453474(+) TAGTAA/GAGATG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for FBXL13 (102453308 - 102703308 bp, first 250kb of FBXL13)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 12 variations for FBXL13
         6 CNVs: 9065 70021 94767 36597 100059 2106
         6 Indels: 42345 62705 52040 100060 47194 12952

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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

    FBXL13 for disorders           About MalaCards

    FBXL13 for disorders           About GeneDecksing

    OMIM gene information: 609080    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: FBXL13 (1 document)

    Export disorders for FBXL13 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 FBXL13 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FBXL13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and analysis of candidate myeloid tumor suppressor genes from a commonly deleted segment of 7q22. (PubMed id 15820312)1, 2 Curtiss N.P.... Shannon K.M. (2005)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    8. Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)1 Jin J....Harper J.W. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Toward a complete human genome sequence. (PubMed id 9847074)1 Wilson R. (1998)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 222235 HGNC: 21658 AceView: FBXL13 Ensembl:ENSG00000161040 euGenes: HUgn222235
    ECgene: FBXL13 H-InvDB: FBXL13

    (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 FBXL13 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 FBXL13 gene:
    Search GeneIP for patents involving FBXL13

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
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    von Willebrand factor
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