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

MRPS27 Gene

protein-coding   GIFtS: 49
GCID: GC05M071551

mitochondrial ribosomal protein S27

  Search for MRPS27
in our new
 Human Malady Compendium 
Biological research products
for MRPS27
    

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

Aliases
Mitochondrial Ribosomal Protein S271 2
KIAA02641 3 5
MRP-S272 3
S27mt2 3
28S Ribosomal Protein S27, Mitochondrial2
Mitochondrial 28S Ribosomal Protein S272

External Ids:    HGNC: 145121   Entrez Gene: 231072   Ensembl: ENSG000001130487   OMIM: 6119895   UniProtKB: Q925523   

Export aliases for MRPS27 gene to outside databases

Previous GC identifers: GC05M070320 GC05M071748 GC05M071554 GC05M071600 GC05M071601 GC05M066720


(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 MRPS27:
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the
mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They
have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed.
Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA.
Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in
biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein
that may be a functional partner of the death associated protein 3 (DAP3). (provided by RefSeq, Jul 2008)




(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_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPS27 gene promoter:
         HTF   NRSF form 1   NF-kappaB   NRSF form 2   Gfi-1   Evi-1   RORalpha1   NF-kappaB2   Hand1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPS27 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPS27

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPS27


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

Entrez Gene cytogenetic band: 5q13.2   Ensembl cytogenetic band:  5q13.2   HGNC cytogenetic band: 5q13.2

MRPS27 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPS27 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M071551:  view genomic region     (about GC identifiers)

Start:
71,515,236 bp from pter      End:
71,616,473 bp from pter
Size:
101,238 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: RT27_HUMAN, Q92552 (See protein sequence)
Recommended Name: 28S ribosomal protein S27, mitochondrial  
Size: 414 amino acids; 47611 Da
Subunit: Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct
proteins. Interacts with NOA1
Subcellular location: Mitochondrion
Sequence caution: Sequence=BAA13394.1; Type=Erroneous initiation;
Secondary accessions: Q6P1S1

Explore the universe of human proteins at neXtProt for MRPS27: NX_Q92552

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92552

  • MRPS27 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055899.2  
    ENSEMBL proteins: 
     ENSP00000261413   ENSP00000428120   ENSP00000426941   ENSP00000426176   ENSP00000427237  
     ENSP00000430590  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MRPS27

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005840ribosome IEA--


    MRPS27 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

    MRPS27 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR019266 Ribosomal_S27_mit
     IPR002885 Pentatricopeptide_repeat

    Graphical View of Domain Structure for InterPro Entry Q92552

    ProtoNet protein and cluster: Q92552

    UniProtKB/Swiss-Prot: RT27_HUMAN, Q92552
    Similarity: Contains 2 PPR (pentatricopeptide) repeats


    (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

    miRNA
    Products:
        
    miRTarBase miRNAs that target MRPS27:
    hsa-mir-218 (MIRT001060)

    OriGene 3'-UTR Clone: MRPS27
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MRPS27:
    hsa-miR-124* hsa-miR-485-5p hsa-miR-513b hsa-miR-4279 hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidMRPS27 3' UTR sequence
    Inhib. RNA
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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:0005515protein binding IPI19103604


    MRPS27 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MRPS27:
     Increased gamma-H2AX phosphory 


    (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 MRPS27

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/396 Interacting proteins for MRPS27 (Q925522, 3 ENSP000002614134) via UniProtKB, MINT, STRING, and/or I2D (see all 396)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3MINT-3297591 MINT-3319845 I2D: score=1 
    YWHAQP273482, 3MINT-8395092 I2D: score=1 
    HNRNPA1P096512, 3, ENSP000003418264MINT-8395092 I2D: score=1 STRING: ENSP00000341826
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    DHX30Q7L2E32MINT-6488590 MINT-8079030 MINT-8395092
    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 MRPS27
    Search CenterWatch for drugs/clinical trials and news about MRPS27 / RT27 

    (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 MRPS27 gene: 
    NM_015084.2  

    Unigene Cluster for MRPS27:

    Mitochondrial ribosomal protein S27
    Hs.482491  [show with all ESTs]
    Unigene Representative Sequence: AK128683
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261413(uc011csd.2 uc003kca.4 uc003kbz.4 uc011cse.2)
    ENST00000457646 ENST00000515226 ENST00000519874 ENST00000513900 ENST00000508863
    ENST00000522585 ENST00000522562(uc010iyz.1) ENST00000522042 ENST00000515404(uc010iza.3)
    ENST00000519143 ENST00000522404 ENST00000520285 ENST00000522095 ENST00000523654
    ENST00000506957

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MRPS27:
    hsa-miR-124* hsa-miR-485-5p hsa-miR-513b hsa-miR-4279 hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidMRPS27 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK025417.1 AK027001.1 AK128683.1 AK296581.1 AK299412.1 AK300111.1 AK309065.1 AK310474.1 
    BC003632.2 BC011818.1 BC030521.2 BC064902.1 D87453.1 

    24/26 DOTS entries (see all 26):

    DT.451709  DT.92453255  DT.95256142  DT.100826273  DT.100826279  DT.95256152  DT.120798085  DT.120797979 
    DT.102830256  DT.120798017  DT.99933727  DT.120798087  DT.92453240  DT.120798079  DT.65285085  DT.100826263 
    DT.102830253  DT.120798016  DT.75147949  DT.75190316  DT.86858999  DT.92453236  DT.92453256  DT.95154601 

    24/428 AceView cDNA sequences (see all 428):

    BX284050 AU138645 BI259691 BQ056274 T03460 AU125273 AK027001 AA894725 
    AI367971 BQ232024 BC064902 BM834161 BQ054430 BM665533 AL556800 D87453 
    CF121919 AW407365 BE742435 BQ054932 BQ225995 BQ049800 BQ651861 BM555628 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MRPS27 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b · 12c
    SP1:                    -                       -     -                                   -           -     -     -           -                                 
    SP2:                                            -     -                                                                                                         
    SP3:                    -                       -                                                                                                               
    SP4:                                                                                      -           -     -     -                                             
    SP5:                    -                                                                                                                                       


    ECgene alternative splicing isoforms for MRPS27

    (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

    MRPS27 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCACGCACA

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

    About this image
    See MRPS27 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPS27

    SOURCE GeneReport for Unigene cluster: Hs.482491
        SABiosciences Custom PCR Arrays for MRPS27
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPS27

    (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 chordates.

    Orthologs for MRPS27 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrps271 , 5 mitochondrial ribosomal protein S271, 5 81.64(n)1
    76.81(a)1
      13 (52.83 cM)5
    2185061  NM_173757.31  NP_776118.21 
     993447865 
    chicken
    (Gallus gallus)
    Aves MRPS271 mitochondrial ribosomal protein S27 68.39(n)
    65.85(a)
      427216  XM_424803.3  XP_424803.1 
    lizard
    (Anolis carolinensis)
    Reptilia MRPS276
    --
    63(a)
    1 ↔ 1
    2(16491136-16509506)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.27712 Transcribed sequence with weak similarity to protein more 73.56(n)    141993475 
    zebrafish
    (Danio rerio)
    Actinopterygii mrps271 mitochondrial ribosomal protein S27 58.42(n)
    52.78(a)
      445321  NM_001003778.1  NP_001003778.1 


    ENSEMBL Gene Tree for MRPS27 (if available)
    TreeFam Gene Tree for MRPS27 (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

    10/1518 NCBI SNPs in MRPS27 are shown (see all 1518    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1817440121,2
    --71514859(+) AGCCTG/TAACCA 1 -- ds50010--------
    rs1489877211,2
    --71514936(+) TTCCTC/GTTAAT 1 -- ds50010--------
    rs1165447741,2
    --71514977(+) TGTTGG/TTAAAC 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1453278141,2
    --71515015(+) CGGCCC/TTCTAC 1 -- ds50010--------
    rs602890501,2
    C,--71515074(+) TCCTG-/ACTACTGC 1 -- ds50010--------
    rs1850861301,2
    --71515098(+) GAGGCA/CACAGG 1 -- ds50010--------
    rs1428797141,2
    C,--71515337(+) AAGAT-/AAAAGA 1 -- ut310--------
    rs1899660831,2
    --71515337(+) CAAAGA/GTAAAG 1 -- ut310--------
    rs68311,2
    C,F,A,H,--71515616(-) GTGCAC/TGCACA 1 -- ut31 ese324Minor allele frequency- T:0.43MN NS EA NA WA CSA 2526
    rs1815623101,2
    --71515683(+) GACGAA/TGTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MRPS27 (71515236 - 71616473 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MRPS27
         2 CNVs: 93097 93098

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRPS27
    DNA2.0 Custom Variant and Variant Library Synthesis for MRPS27

    (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

    MRPS27 for disorders           About MalaCards

    MRPS27 for disorders           About GeneDecksing

    OMIM gene information: 611989    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: MRPS27 (1 document)

    Export disorders for MRPS27 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 MRPS27 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with MRPS27)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. hNOA1 interacts with complex I and DAP3 and regulates mitochondrial respiration and apoptosis. (PubMed id 19103604)1, 2 Tang T....Farquhar M.G. (2009)
    2. Identification of four proteins from the small subunit of the mammalian mitochondrial ribosome using a proteomics approach. (PubMed id 11344316)1, 2 Koc E.C....Spremulli L.L. (2001)
    3. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T....Nomura N. (1996)
    4. Targeted ubiquitination and degradation of G-protein-c oupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. (PubMed id 22952844)1 Wu Z....Ma L. (2012)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. MRPS27 is a pentatricopeptide repeat domain protein re quired for the translation of mitochondrially encoded proteins. (PubMed id 22841715)1 Davies S.M....Filipovska A. (2012)
    7. Interactome study suggests multiple cellular functions of hepatoma-derived growth factor (HDGF). (PubMed id 21907836)1 Zhao J....Yang P. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)

    (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: 23107 HGNC: 14512 AceView: MRPS27 Ensembl:ENSG00000113048 euGenes: HUgn23107
    ECgene: MRPS27 H-InvDB: MRPS27

    (According to HUGE)
    About This Section
    HUGE: KIAA0264

    (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 MRPS27 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 MRPS27 gene:
    Search GeneIP for patents involving MRPS27

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



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