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

SPATA5 Gene

protein-coding   GIFtS: 55
GCID: GC04P123844

spermatogenesis associated 5

 Explore 4 diseases affiliated with
SPATA5 via our new
 Human Malady Compendium 
Biological research products
for SPATA5
    

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

Aliases
Spermatogenesis Associated 51 2     ATPase Family Protein 2 Homolog2 3
AFG21 2 3     ATPase Family Gene 2 Homolog2
SPAF1 2 3     Spermatogenesis Associated Factor SPAF2
Spermatogenesis-Associated Factor Protein2 3     Spermatogenesis-Associated Protein 52

External Ids:    HGNC: 181191   Entrez Gene: 1663782   Ensembl: ENSG000001453757   OMIM: 6139405   UniProtKB: Q8NB903   

Export aliases for SPATA5 gene to outside databases

Previous GC identifers: GC00U991164 GC04P124123 GC04P124237 GC04P124303 GC04P124201 GC04P119570


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

UniProtKB/Swiss-Prot: SPAT5_HUMAN, Q8NB90
Function: May be involved in morphological and functional mitochondrial transformations during spermatogenesis (By
similarity)

Gene Wiki entry for SPATA5


(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_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPATA5 gene promoter:
         HOXA3   AP-1   GCNF   STAT3   POU6F1 (c2)   Nkx2-5   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPATA5 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPATA5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPATA5


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

Entrez Gene cytogenetic band: 4q28.1   Ensembl cytogenetic band:  4q28.1   HGNC cytogenetic band: 4q28.1

SPATA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA5 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P123844:  view genomic region     (about GC identifiers)

Start:
123,844,225 bp from pter      End:
124,240,605 bp from pter
Size:
396,381 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: SPAT5_HUMAN, Q8NB90 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 5  
Size: 893 amino acids; 97904 Da
Subcellular location: Cytoplasm (By similarity). Mitochondrion (By similarity)
Secondary accessions: C9JT97 Q86XW1 Q8NI20 Q8TDL7
Alternative splicing: 3 isoforms:  Q8NB90-1   Q8NB90-2   Q8NB90-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPATA5: NX_Q8NB90

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NB90

  • SPATA5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_660208.2  
    ENSEMBL proteins: 
     ENSP00000274008  

    Human Recombinant Protein Products: 
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    Uscn Proteins for SPATA5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--


    SPATA5 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

    SPATA5 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR003959 ATPase_AAA_core
     IPR003960 ATPase_AAA_CS
     IPR003593 AAA+_ATPase
     IPR009010 Asp_de-COase-like_fold
     IPR003338 CDC4_N-term_subdom

    Graphical View of Domain Structure for InterPro Entry Q8NB90

    ProtoNet protein and cluster: Q8NB90

    1 Blocks protein family: IPB003960 AAA-protein subdomain

    UniProtKB/Swiss-Prot: SPAT5_HUMAN, Q8NB90
    Similarity: Belongs to the AAA ATPase family. AFG2 subfamily


    (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: SPAT5_HUMAN, Q8NB90
    Function: May be involved in morphological and functional mitochondrial transformations during spermatogenesis (By
    similarity)

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    hsa-miR-3164 hsa-miR-106a hsa-miR-578 hsa-miR-3653 hsa-miR-519a hsa-miR-29b-1* hsa-miR-10b* hsa-miR-3622b-3p
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--


    SPATA5 for ontologies           About GeneDecksing



    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for SPATA5):
        Ribosome biogenesis in eukaryotes


    SPATA5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPATA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/791 Interacting proteins for SPATA5 (Q8NB902, 3 ENSP000002740084) via UniProtKB, MINT, STRING, and/or I2D (see all 791)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--


    SPATA5 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 SPATA5
    Search CenterWatch for drugs/clinical trials and news about SPATA5 / SPAT5 

    (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 SPATA5 gene: 
    NM_145207.2  

    Unigene Cluster for SPATA5:

    Spermatogenesis associated 5
    Hs.709648  [show with all ESTs]
    Unigene Representative Sequence: NM_145207
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000274008(uc003iey.3 uc003iez.4) ENST00000422835

    miRNA
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    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate SPATA5 (see all 38):
    hsa-miR-3164 hsa-miR-106a hsa-miR-578 hsa-miR-3653 hsa-miR-519a hsa-miR-29b-1* hsa-miR-10b* hsa-miR-3622b-3p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF361489.1 AF479656.1 AK091384.1 AL832175.1 BC048217.1 

    7 DOTS entries:

    DT.407316  DT.75181099  DT.100018626  DT.100690397  DT.303551  DT.40126282  DT.40277868 

    24/29 AceView cDNA sequences (see all 29):

    CB161556 BC048217 CK429228 BQ695055 CB164025 BE552149 CD654419 AA680133 
    AA922894 AF479656 AI791698 BE550289 BE973941 CD637554 BE552314 BX641009 
    AA932752 CD637558 CD637556 CD696774 AX746949 AF361489 CF597467 NM_145207 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SPATA5    About this scheme

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


    ECgene alternative splicing isoforms for SPATA5

    (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

    SPATA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCAAGAAAC

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

    About this image
    See SPATA5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPATA5

    SOURCE GeneReport for Unigene cluster: Hs.709648
        SABiosciences Custom PCR Arrays for SPATA5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA5

    (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 SPATA5 gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SPATA51 spermatogenesis associated 5 68.66(n)
    68.66(a)
      422665  XM_420619.3  XP_420619.2 
    lizard
    (Anolis carolinensis)
    Reptilia SPATA56
    --
    64(a)
    1 ↔ 1
    5(138491788-138549952)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.177772 Transcribed sequence with weak similarity to protein more 78.34(n)    BX713211.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003326221 spermatogenesis-associated protein 5-like 61.04(n)
    65.83(a)
      100332622  XM_002663196.2  XP_002663242.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57761 CG5776 53.32(n)
    49.47(a)
      34680  NM_135741.2  NP_609585.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AFG2(YLR397C)4
    AFG21
    ATPase of the CDC48/PAS1/SEC18 (AAA) family, forms more4
    Afg2p1
    54.24(n)1
    50.9(a)1
      12(914892-912550)4
    8511131, 4  NP_013501.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CIP1116
    Cam interacting protein 111
    28(a)
    1 ↔ 1
    3(20993693-20998695)
    rice
    (Oryza sativa)
    Liliopsida --
    CIP111, putative, expressed
    29(a)
    1 ↔ 1
    11(6284657-6290913)


    ENSEMBL Gene Tree for SPATA5 (if available)
    TreeFam Gene Tree for SPATA5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPATA5 gene
    SPATA5L12  VCP2  
    13 SIMAP similar genes for SPATA5 using alignment to 1 protein entry:     SPAT5_HUMAN:
    DKFZp434K0126    PSMC1    VCP    SPATA5L1    ATAD1    DKFZp667C165
    PSMC2    DKFZp434E0418    NVL    PSMC3    PSMC4    PSMC5
    PSMC6

    SPATA5 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for SPATA5
         4 CNVs: 3512 92367 98872 2543
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPATA5
    DNA2.0 Custom Variant and Variant Library Synthesis for SPATA5

    (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

    SPATA5 for disorders           About GeneDecksing

    OMIM gene information: 613940    OMIM disorders: --

    4 diseases for SPATA5:    About MalaCards
    cerebrovascular accident    schizophrenia    tuberculosis    mycobacterium tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for SPATA5:
    Cerebrovascular accident     Transient cerebral ischemia
    Human Genome Epidemiology (HuGE) Navigator: SPATA5 (1 document)

    Export disorders for SPATA5 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 SPATA5 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with SPATA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FGF signaling inhibitor, SPRY4, is evolutionarily conserved target of WNT signaling pathway in progenitor cells. (PubMed id 16465403)1, 3 Katoh Y. and Katoh M. (2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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)
    4. Genome-wide pooling approach identifies SPATA5 as a ne w susceptibility locus for alopecia areata. (PubMed id 22027810)1 Forstbauer L.M....Betz R.C. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. 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)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Exome sequencing supports a de novo mutational paradi gm for schizophrenia. (PubMed id 21822266)1 Xu B....Karayiorgou M. (2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

    (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: 166378 HGNC: 18119 AceView: SPATA5 Ensembl:ENSG00000145375 euGenes: HUgn166378
    ECgene: SPATA5 Kegg: 166378 H-InvDB: SPATA5

    (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 SPATA5 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 SPATA5 gene:
    Search GeneIP for patents involving SPATA5

    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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    von Willebrand factor
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