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

RDH14 Gene

protein-coding   GIFtS: 54
GCID: GC02M018735

retinol dehydrogenase 14 (all-trans/9-cis/11-cis)

(Previous name: retinol dehydrogenase 14 (all-trans and 9-cis) )
 Explore 6 diseases affiliated with
RDH14 via our new
 Human Malady Compendium 
Biological research products
for RDH14
    

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

Aliases
Retinol Dehydrogenase 14 (All-Trans/9-Cis/11-Cis)1 2     Pancreas Protein 22
PAN21 2 3     Retinol Dehydrogenase 142
SDR7C41 2     Short Chain Dehydrogenase/Reductase Family 7C, Member 42
Retinol Dehydrogenase 14 (All-Trans And 9-Cis)1 2     EC 1.1.1.-3
Alcohol Dehydrogenase PAN22 3     

External Ids:    HGNC: 199791   Entrez Gene: 576652   Ensembl: ENSG000002408577   UniProtKB: Q9HBH53   

Export aliases for RDH14 gene to outside databases

Previous GC identifers: GC02M018670 GC02M018703 GC02M018720 GC02M018658 GC02M018659 GC02M018600 GC02M018601


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

UniProtKB/Swiss-Prot: RDH14_HUMAN, Q9HBH5
Function: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal
reductase. Displays high activity toward 9-cis and all-trans-retinol. No steroid dehydrogenase activity detected

Gene Wiki entry for RDH14


(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_000002.11  NC_018913.1  NT_015926.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RDH14 gene promoter:
         NF-1   HSF1 (long)   FOXD3   E47   Roaz   POU2F1   CP2   c-Myb   IRF-7A   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRDH14 promoter sequence
   Search SABiosciences Chromatin IP Primers for RDH14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RDH14


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

Entrez Gene cytogenetic band: 2p24.2   Ensembl cytogenetic band:  2p24.2   HGNC cytogenetic band: 2p24.2

RDH14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RDH14 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M018735:  view genomic region     (about GC identifiers)

Start:
18,735,989 bp from pter      End:
18,741,959 bp from pter
Size:
5,971 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: RDH14_HUMAN, Q9HBH5 (See protein sequence)
Recommended Name: Retinol dehydrogenase 14  
Size: 336 amino acids; 36865 Da

Explore the universe of human proteins at neXtProt for RDH14: NX_Q9HBH5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HBH5

  • RDH14 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065956.1  
    ENSEMBL proteins: 
     ENSP00000370648  

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    Uscn Proteins for RDH14

    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:0005783endoplasmic reticulum IDA--


    RDH14 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

    RDH14 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9HBH5

    ProtoNet protein and cluster: Q9HBH5

    2 Blocks protein families:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: RDH14_HUMAN, Q9HBH5
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    (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: RDH14_HUMAN, Q9HBH5
    Function: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal
    reductase. Displays high activity toward 9-cis and all-trans-retinol. No steroid dehydrogenase activity detected

    Enzyme Number (IUBMB): EC 1.1.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0016491oxidoreductase activity IEA--


    RDH14 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RDH14:
     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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1purine nucleotides degradation II (aerobic)
    purine nucleotides degradation II (aerobic)1.00
    urate biosynthesis/inosine 5-phosphate degradation0.58
    adenosine nucleotides degradation II0.67
    2Retinol metabolism
    Retinol metabolism1.00
    Retinol metabolism0.95
    3Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods1.00
    4Nicotinate metabolism
    NAD salvage pathway II0.18

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for RDH14
        Retinol metabolism

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RDH14
        Visual Cycle in Retinal Rods

    1 GeneGo (Thomson Reuters) Pathway for RDH14
        Retinol metabolism

    4 BioSystems Pathways for RDH14 
        adenosine nucleotides degradation II
    NAD salvage pathway II
    urate biosynthesis/inosine 5-phosphate degradation
    purine nucleotides degradation II (aerobic)



    RDH14 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RDH14

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for RDH14 (ENSP000003706484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAENSP000003619654STRING: ENSP00000361965
    ADAT3ENSP000003324484STRING: ENSP00000332448
    DDOSTENSP000003641884STRING: ENSP00000364188
    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 RDH14

    1 HMDB Compound for RDH14    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    1 DrugBank Compound for RDH14    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about RDH14 

    (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 RDH14 gene: 
    NM_020905.3  

    Unigene Cluster for RDH14:

    Retinol dehydrogenase 14 (all-trans/9-cis/11-cis)
    Hs.120319  [show with all ESTs]
    Unigene Representative Sequence: NM_020905
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381249(uc002rcx.4) ENST00000468071

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    hsa-miR-26a hsa-miR-26b hsa-miR-3692 hsa-miR-1297
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF237952.1 AK314994.1 AY358511.1 BC009830.2 

    4 DOTS entries:

    DT.312418  DT.97839857  DT.91981067  DT.100746307 

    24/136 AceView cDNA sequences (see all 136):

    BU608953 AK093234 AX748003 CR612704 BM142623 AA774597 CR619475 AI383883 
    AI085960 AI041525 BU076588 CR597110 AF352326 AV688583 AI954386 CR598421 
    BM548950 N76631 AA886674 AI623153 BX112465 AI570292 BM678079 NM_033253 

    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

    RDH14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCAAAGTGT

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

    About this image
    See RDH14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RDH14

    SOURCE GeneReport for Unigene cluster: Hs.120319

    UniProtKB/Swiss-Prot: RDH14_HUMAN, Q9HBH5
    Tissue specificity: Expressed in brain, kidney, pancreas and placenta

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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 eukaryotes.

    Orthologs for RDH14 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RDH141 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) 74.91(n)
    80.21(a)
      421953  XM_419965.3  XP_419965.3 
    lizard
    (Anolis carolinensis)
    Reptilia RDH146
    --
    79(a)
    1 ↔ 1
    1(153739818-153744811)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.168402 Transcribed sequence with moderate similarity to protein more 70.63(n)    BI983675.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dhs-16
    DeHydrogenases, Short chain family member (dhs-1)
    27(a)
    possible ortholog
    I(5278807-5281519)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FEY6
    AT5G530906
    (see all 3)
    Rossmann-fold NAD(P)-binding domain-containing pro...
    Rossmann-fold NAD(P)-binding domain-containing pro...
    (see all 3)
    26(a)
    26(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    4(13844065-13846746)
    5(21523379-21525697)
    rice
    (Oryza sativa)
    Liliopsida --
    oxidoreductase, short chain dehydrogenase/reductas...
    23(a)
    possible ortholog
    2(870724-876616)


    ENSEMBL Gene Tree for RDH14 (if available)
    TreeFam Gene Tree for RDH14 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RDH14 gene
    DHRS122  RDH132  ENSG000002671492  WWOX2  DHRSX2  RDH122  DHRS132  RDH112  
    7 SIMAP similar genes for RDH14 using alignment to 2 protein entries:     RDH14_HUMAN (see all proteins):
    RDH13    RDH12    NT5C1B-RDH14    RDH11    DHRS13    WWOX
    DHRSX

    RDH14 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

    10/99 NCBI SNPs in RDH14 are shown (see all 99    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1413369211,2
    --18735513(+) AGACA-/ACACAGA 3 -- ds5001 int10--------
    rs732263471,2
    C,--18735527(+) ATTCCT/CTTCCT 3 -- int1 ds50013Minor allele frequency- C:0.15WA CSA 121
    rs1811831341,2
    --18735538(+) CACTGC/TAAAGT 3 -- int1 ds50010--------
    rs1860134011,2
    --18735596(+) GTCTCA/CTGGAG 3 -- int1 ds50010--------
    rs1495679441,2
    --18735766(+) AAACAC/GCGCTT 3 -- ds5001 int10--------
    rs1895882401,2
    --18735853(+) ATTTGA/GGTTTT 3 -- ds5001 int10--------
    rs1442214421,2
    --18735902(+) GCAAGA/GAGAGA 3 -- int1 ds50010--------
    rs1807861261,2
    --18735995(+) TAAGAA/TTTTGT 3 -- ut310--------
    rs1864427461,2
    --18736038(+) GCACAC/TACCAG 3 -- ut310--------
    rs1908458281,2
    --18736166(+) CAAATA/GTTAAT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for RDH14 (18735989 - 18741959 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for RDH14
         2 CNVs: 89518 8365

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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

    RDH14 for disorders           About GeneDecksing

    6 diseases for RDH14:    About MalaCards
    amyotrophic lateral sclerosis    lateral sclerosis    alcoholism    retinitis
    tuberculosis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: RDH14 (1 document)

    Export disorders for RDH14 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 RDH14 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with RDH14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. (PubMed id 12226107)1, 2, 3 Haeseleer F.... Palczewski K. (2002)
    2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    3. 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)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    5. Human pancreas protein 2 (PAN2) has a retinal reductase activity and is ubiquitously expressed in human tissues. (PubMed id 12435598)1, 9 Belyaeva O.V. and Kedishvili N.Y. (2002)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    10. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. (PubMed id 17362836)1 Schymick J.C....Traynor B.J. (2007)

    (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: 57665 HGNC: 19979 AceView: RDH14andNT5C1B Ensembl:ENSG00000240857 euGenes: HUgn57665
    ECgene: RDH14 H-InvDB: RDH14

    (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 RDH14 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 RDH14 gene:
    Search GeneIP for patents involving RDH14

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



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