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

SLC25A38 Gene

protein-coding   GIFtS: 49
GCID: GC03P039433

solute carrier family 25, member 38

 Explore 4 diseases affiliated with
SLC25A38 via our new
 Human Malady Compendium 
Biological research products
for SLC25A38
    

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

Aliases
Solute Carrier Family 25, Member 381 2
FLJ205511
Solute Carrier Family 25 Member 382

External Ids:    HGNC: 260541   Entrez Gene: 549772   Ensembl: ENSG000001446597   OMIM: 6108195   UniProtKB: Q96DW63   

Export aliases for SLC25A38 gene to outside databases

Previous GC identifer: GC03P039400


(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 SLC25A38:
This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is
important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic
anemia.(provided by RefSeq, Mar 2010)

UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6
Function: Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly
by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging
glycine for ALA across the mitochondrial inner membrane




(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_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC25A38 gene promoter:
         AhR   C/EBPbeta   AP-2gamma   Ik-3   Arnt   AP-2beta   NF-Y   AP-2alpha   CBF(2)   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A38 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC25A38

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A38


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

Entrez Gene cytogenetic band: 3p22.1   Ensembl cytogenetic band:  3p22.1   HGNC cytogenetic band: 3p22.1

SLC25A38 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A38 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P039433:  view genomic region     (about GC identifiers)

Start:
39,424,815 bp from pter      End:
39,438,819 bp from pter
Size:
14,005 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: S2538_HUMAN, Q96DW6 (See protein sequence)
Recommended Name: Solute carrier family 25 member 38  
Size: 304 amino acids; 33566 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q9NWX2

Explore the universe of human proteins at neXtProt for SLC25A38: NX_Q96DW6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96DW6

  • SLC25A38 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060345.2  
    ENSEMBL proteins: 
     ENSP00000273158   ENSP00000394244  

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    Uscn Proteins for SLC25A38

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral to membrane IEA--


    SLC25A38 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

    SLC25A38 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry Q96DW6

    ProtoNet protein and cluster: Q96DW6

    UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily
    Similarity: Contains 3 Solcar 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

    Function Summary:

         UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6
    Function: Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly
    by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging
    glycine for ALA across the mitochondrial inner membrane

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    Inhib. RNA
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    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc25a38):
     behavior/neurological  other 

    SLC25A38 for phenotypes           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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A38

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/17 Interacting proteins for SLC25A38 (Q96DW62, 3 ENSP000002731584) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EMG1Q929792, 3MINT-65079 I2D: score=5 
    ZSCAN16Q9H4T22, 3, ENSP000003665274MINT-65496 I2D: score=5 STRING: ENSP00000366527
    NOL12Q9UGY13I2D: score=3 
    ACAT1P247523I2D: score=1 
    BUB1O436833I2D: 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:0006783heme biosynthetic process TAS19412178
    GO:0006810transport IEA--
    GO:0030218erythrocyte differentiation IMP19412178


    SLC25A38 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 SLC25A38
    Search CenterWatch for drugs/clinical trials and news about SLC25A38 / S2538 

    (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 SLC25A38 gene: 
    NM_017875.2  

    Unigene Cluster for SLC25A38:

    Solute carrier family 25, member 38
    Hs.369615  [show with all ESTs]
    Unigene Representative Sequence: NM_017875
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000273158(uc003cjo.2) ENST00000431510

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC25A38:
    hsa-miR-661 hsa-miR-4251 hsa-miR-3116
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK000558.1 AK026356.1 AK225388.1 BC013194.1 CR457242.1 

    8 DOTS entries:

    DT.445347  DT.120903404  DT.92409597  DT.120903380  DT.121366996  DT.100794251  DT.120903379  DT.121387244 

    24/272 AceView cDNA sequences (see all 272):

    CD369564 BM457448 AI654119 CR621188 R98449 AI418864 BU527922 BM823866 
    BI831706 CR614324 CA393864 AW162088 BM801953 BQ918550 AA127279 BQ638064 
    AW272892 CR619847 AA127278 BC013194 AW474086 BQ217265 AV708275 BM726696 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A38    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7
    SP1:                                                                                                
    SP2:                                                        -                                       
    SP3:                                                              -     -                           
    SP4:                                      -     -                                                   
    SP5:                                            -     -     -     -     -     -                     


    ECgene alternative splicing isoforms for SLC25A38

    (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

    SLC25A38 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCAGGTGGA

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

    About this image
    See SLC25A38 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A38

    SOURCE GeneReport for Unigene cluster: Hs.369615

    UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6
    Tissue specificity: Preferentially expressed in erythroid cells

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    In Situ
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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 and fungi.

    Orthologs for SLC25A38 gene from 5/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC25A381 solute carrier family 25, member 38 71.89(n)
    73.67(a)
      420717  XM_418818.2  XP_418818.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A386
    --
    53(a)
    1 ↔ 1
    GL343324.1(464498-503614)
    zebrafish
    (Danio rerio)
    Actinopterygii slc25a38b1 solute carrier family 25 member 38-B 63.29(n)
    62.24(a)
      571961  NM_001202458.1  NP_001189387.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    45(a)
    1 ↔ 1
    GroupUn.41(20392-23944)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YDL119C)4
    YDL119C1
    Putative mitochondrial transport protein; GFP-fusion more4
    hypothetical protein1
    45.49(n)1
    37.65(a)1
      4(247612-246689)4
    8514391, 4  NP_010164.11, 4 


    ENSEMBL Gene Tree for SLC25A38 (if available)
    TreeFam Gene Tree for SLC25A38 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC25A38 gene
    1 SIMAP similar gene for SLC25A38 using alignment to 2 protein entries:     S2538_HUMAN (see all proteins):
    SLC25A17

    SLC25A38 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC25A38
    PGOHUM00000245087


    (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

    10/286 NCBI SNPs in SLC25A38 are shown (see all 286    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1997523631,2
    --39422891(+) TTTTC-/TTTTTT 1 -- us2k10--------
    rs1852054031,2
    --39422896(+) CTTTTA/TAAAAA 1 -- us2k10--------
    rs2000309361,2
    --39422896(+) TTTTT-/AAAAAA 1 -- us2k10--------
    rs1898606451,2
    --39422897(+) TTTTTA/TAAAAA 1 -- us2k10--------
    rs1828193711,2
    --39423085(+) CAGGAC/GCAGAT 1 -- us2k10--------
    rs1432541281,2
    --39423194(+) AGGGCC/GGGCTT 1 -- us2k10--------
    rs1512449031,2
    --39423212(+) AGATCC/TCACCT 1 -- us2k10--------
    rs1409077231,2
    --39423260(+) AAATAC/TGCCAA 1 -- us2k10--------
    rs1501676741,2
    --39423590(+) GCCTCA/CCGAGT 1 -- us2k10--------
    rs1153892701,2
    C,--39423620(+) TGCCAA/CCACAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC25A38 (39424815 - 39438819 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC25A38: --
    Human Gene Mutation Database (HGMD): SLC25A38

    SABiosciences Cancer Mutation PCR Assays
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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

    SLC25A38 for disorders           About GeneDecksing

    OMIM gene information: 610819   
    OMIM disorders: 205950  
    UniProtKB/Swiss-Prot: S2538_HUMAN, Q96DW6
  • Defects in SLC25A38 are a cause of anemia sideroblastic pyridoxine-refractory autosomal recessive (PRARSA)
  • [MIM:205950]. A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by
    anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic
    ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by
    iron-loaded mitochondria clustered around the nucleus

    4 diseases for SLC25A38:    About MalaCards
    sideroblastic anemia    anemia    iron overload    pearson syndrome

    2 diseases from the University of Copenhagen DISEASES database for SLC25A38:
    Sideroblastic anemia     Pearson syndrome

    Export disorders for SLC25A38 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 SLC25A38 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with SLC25A38)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. (PubMed id 16949250)1, 2, 3 Haitina T.... Fredriksson R. (2006)
    2. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. (PubMed id 19412178)1, 2 Guernsey D.L.... Samuels M.E. (2009)
    3. Missense SLC25A38 variations play an important role i n autosomal recessive inherited sideroblastic anemia. (PubMed id 21393332)1 Kannengiesser C....May A. (2011)
    4. Systematic molecular genetic analysis of congenital s ideroblastic anemia: evidence for genetic heterogeneity and identification of n ovel mutations. (PubMed id 19731322)1 Bergmann A.K....Neufeld E.J. (2010)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. 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)

    (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: 54977 HGNC: 26054 AceView: FLJ20551 Ensembl:ENSG00000144659 euGenes: HUgn54977
    ECgene: SLC25A38 H-InvDB: SLC25A38

    (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 SLC25A38 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 SLC25A38 gene:
    Search GeneIP for patents involving SLC25A38

    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),
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