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

SPATA18 Gene

protein-coding   GIFtS: 46
GCID: GC04P052917

Spermatogenesis Associated 18

(Previous name: spermatogenesis associated 18 homolog (rat))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Spermatogenesis Associated 181 2     Mieap2
Spermatogenesis-Associated Protein 182 3     Mitochondria-Eating Protein2
SPETEX12 5     Spermatogenesis Associated 18 Homolog2
Spermatogenesis Associated 18 Homolog (Rat)1     MIEAP3

External Ids:    HGNC: 295791   Entrez Gene: 1326712   Ensembl: ENSG000001630717   OMIM: 6128145   UniProtKB: Q8TC713   

Export aliases for SPATA18 gene to outside databases

Previous GC identifers: GC04P052759 GC04P052612 GC04P048859


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

GeneCards Summary for SPATA18 Gene: 
SPATA18 (spermatogenesis associated 18) is a protein-coding gene. Diseases associated with SPATA18 include limb-girdle muscular dystrophy type 2e, and limb-girdle muscular dystrophy. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: MIEAP_HUMAN, Q8TC71
Function: Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy
mitochondria in response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named
MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the
mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion
degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which
engulf and degrade unhealthy mitochondria by accumulating lysosomes. The physical interaction of SPATA18/MIEAP,
BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial
double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the
mitochondrial matrix




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_022853.15  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPATA18 gene promoter:
         HOXA9   p53   AP-1   ATF-2   Nkx2-5   CREB   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPATA18 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPATA18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPATA18


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q11

SPATA18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA18 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P052917:  view genomic region     (about GC identifiers)

Start:
52,917,497 bp from pter      End:
52,963,458 bp from pter
Size:
45,962 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MIEAP_HUMAN, Q8TC71 (See protein sequence)
Recommended Name: Mitochondria-eating protein  
Size: 538 amino acids; 61109 Da
Subunit: Interacts (via coiled-coil domains) with BNIP3L (via BH3 domain). Interacts (via coiled-coil domains)
with BNIP3 (via BH3 domain)
Subcellular location: Cytoplasm. Mitochondrion outer membrane. Note=Localizes to the cytoplasm under normal
conditions. Relocalizes to mitochondrion outer membrane following cellular stress. Colocalizes with BNIP3 and
BNIP3L at the mitochondrion outer membrane
Sequence caution: Sequence=BAC05356.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B4E2R0 E5RLK1 Q8IY48 Q8N7D7
Alternative splicing: 2 isoforms:  Q8TC71-1   Q8TC71-2   

Explore the universe of human proteins at neXtProt for SPATA18: NX_Q8TC71

Explore proteomics data for SPATA18 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TC71

  • SPATA18 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPATA18 Protein Expression
    REFSEQ proteins: NP_660306.1  
    ENSEMBL proteins: 
     ENSP00000295213   ENSP00000426345   ENSP00000415309   ENSP00000424695   ENSP00000421204  
     ENSP00000424656  

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    Cloud-Clone Corp. Proteins for SPATA18 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005741mitochondrial outer membrane IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--
    GO:0044447axoneme part ----

    SPATA18 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026169 MIEAP

    Graphical View of Domain Structure for InterPro Entry Q8TC71

    ProtoNet protein and cluster: Q8TC71

    UniProtKB/Swiss-Prot: MIEAP_HUMAN, Q8TC71
    Similarity: Belongs to the MIEAP family


    SPATA18 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MIEAP_HUMAN, Q8TC71
    Function: Key regulator of mitochondrial quality that mediates the repairing or degradation of unhealthy
    mitochondria in response to mitochondrial damage. Mediator of mitochondrial protein catabolic process (also named
    MALM) by mediating the degradation of damaged proteins inside mitochondria by promoting the accumulation in the
    mitochondrial matrix of hydrolases that are characteristic of the lysosomal lumen. Also involved in mitochondrion
    degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which
    engulf and degrade unhealthy mitochondria by accumulating lysosomes. The physical interaction of SPATA18/MIEAP,
    BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial
    double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the
    mitochondrial matrix
    Induction: By p53/TP53 and p63/TP63. Directly activated by p53/TP53

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    SPATA18 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPATA18

    2 Interacting proteins for SPATA18 (Q8TC713) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCIP417433I2D: score=2 
    TRAF2Q129333I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006974response to DNA damage stimulus IDA--
    GO:0033554cellular response to stress ----
    GO:0035694mitochondrial protein catabolic process IMP--
    GO:0035695mitochondrion degradation by induced vacuole formation IMP--

    SPATA18 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 SPATA18 (MIEAP)

    Search CenterWatch for drugs/clinical trials and news about SPATA18 / MIEAP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for SPATA18 gene: 
    NM_145263.2  

    Unigene Cluster for SPATA18:

    Spermatogenesis associated 18
    Hs.527090  [show with all ESTs]
    Unigene Representative Sequence: BC025396
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295213(uc003gzl.3 uc011bzq.2) ENST00000514670 ENST00000506829
    ENST00000508915 ENST00000419395 ENST00000511028(uc003gzk.1) ENST00000503055
    ENST00000505320(uc010igl.1) ENST00000505038 ENST00000510549
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    Additional mRNA sequence: 

    AB465501.1 AB465502.1 AK057468.1 AK098625.1 AK304386.1 AK314799.1 BC025396.1 BC037886.1 

    6 DOTS entries:

    DT.108064  DT.100751068  DT.121258410  DT.95363733  DT.121258418  DT.95161390 

    24/71 AceView cDNA sequences (see all 71):

    BX112167 AA970452 AW193697 BG740831 AK057468 AW172871 AA789259 BM021895 
    CK904113 AI671754 AL042482 AW590387 AK098625 W19692 BU625844 AI339078 
    AI963757 CK904112 AL705738 BI559774 BC025396 BU930386 BG699198 BC037886 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SPATA18 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13
    SP1:                                                        -                                               -                             -                     
    SP2:                                                        -                                               -                                                   
    SP3:                                                                                                                                                            
    SP4:                                            -     -     -     -                                                                                             
    SP5:                                -     -     -     -     -                                                                                                   


    ECgene alternative splicing isoforms for SPATA18

    (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

    SPATA18 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGAGCCACC
    SPATA18 Expression
    About this image


    See SPATA18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPATA18

    SOURCE GeneReport for Unigene cluster: Hs.527090
        SABiosciences Custom PCR Arrays for SPATA18
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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 chordates.

    Orthologs for SPATA18 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spata181 , 5 spermatogenesis associated 181, 5 78.03(n)1
    73.9(a)1
      5 (39.03 cM)5
    734721  NM_178387.31  NP_848474.21 
     736513805 
    chicken
    (Gallus gallus)
    Aves SPATA181 spermatogenesis associated 18 homolog (rat) 59.21(n)
    51.75(a)
      422759  XM_420712.3  XP_420712.3 
    lizard
    (Anolis carolinensis)
    Reptilia SPATA186
    Uncharacterized protein
    47(a)
    1 ↔ 1
    GL343293.1(1232515-1257521)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.138642 Transcribed sequences 76.62(n)    BI707269.1 


    ENSEMBL Gene Tree for SPATA18 (if available)
    TreeFam Gene Tree for SPATA18 (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, 4UniProtKB, 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

    10/866 SNPs in SPATA18 are shown (see all 866)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1939210371,2
    Cuntested152843628(+) AGACCA/C/GTTCAG 2 I V mis10--------
    rs1855761531,2
    --52816203(+) ATCCAA/GGATGA 1 -- us2k10--------
    rs1904305671,2
    --52816215(+) ATTTTA/GGCAAG 1 -- us2k10--------
    rs1408319731,2
    --52816302(+) CATGAC/TAGAAA 1 -- us2k10--------
    rs1814124211,2
    C--52816328(+) AAAATA/GTAAAA 1 -- us2k10--------
    rs787670811,2
    --52816337(+) AAGAGC/TAATTA 1 -- us2k10--------
    rs1868533411,2
    --52816691(+) CTTACG/TAAGTT 1 -- us2k10--------
    rs1386247441,2
    --52816851(+) AAATGG/TGACTG 1 -- us2k10--------
    rs354202521,2
    C,F,H--52816994(+) ATTTAG/TCTGTT 1 -- us2k13Minor allele frequency- T:0.03NS NA 178
    rs1920991191,2
    --52817259(+) AGAGAC/TGAAAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPATA18 (52917497 - 52963458 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SPATA18:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1364839CNV Insertion17803354
    nsv829932CNV Gain17160897
    esv7897CNV Gain19470904
    nsv829933CNV Gain17160897
    nsv879011CNV Gain21882294
    esv260070OTHER Complex20981092
    esv259487OTHER Complex20981092

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612814    OMIM disorders: --

    3 diseases for SPATA18:    About MalaCards
    limb-girdle muscular dystrophy type 2e    limb-girdle muscular dystrophy    muscular dystrophy


    SPATA18 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPATA18
    Human Genome Epidemiology (HuGE) Navigator: SPATA18 (1 document)

    Export disorders for SPATA18 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)
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    PubMed articles for SPATA18 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with SPATA18)
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    1. SPATA18, a spermatogenesis-associated gene, is a novel transcriptional target of p53 and p63. (PubMed id 21300779)1, 2, 3 Bornstein C....Rotter V. (2011)
    2. BNIP3 and NIX mediate Mieap-induced accumulation of lysosomal proteins within mitochondria. (PubMed id 22292033)1, 2 Nakamura Y.... Arakawa H. (2012)
    3. Mieap, a p53-inducible protein, controls mitochondrial quality by repairing or eliminating unhealthy mitochondria. (PubMed id 21264228)1, 2 Kitamura N.... Arakawa H. (2011)
    4. Possible existence of lysosome-like organella within mitochondria and its role in mitochondrial quality control. (PubMed id 21264221)1, 2 Miyamoto Y.... Arakawa H. (2011)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    8. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PubMed id 19260141)4 Zemunik T....Rudan I. (2009)
    9. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (2007)
    10. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.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)
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    Entrez Gene: 132671 HGNC: 29579 AceView: LOC132671 Ensembl:ENSG00000163071 euGenes: HUgn132671
    ECgene: SPATA18 H-InvDB: SPATA18

    (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 SPATA18 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPATA18 gene:
    Search GeneIP for patents involving SPATA18

    GeneCards and IP:
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