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

KIAA1279 Gene

protein-coding   GIFtS: 55
GCID: GC10P070748

KIAA1279

Alzheimer's & Parkinson's Diseases Congress
  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
KIAA12791 2
KBP2 3
TTC202
KIF1-Binding Protein2

External Ids:    HGNC: 234191   Entrez Gene: 261282   Ensembl: ENSG000001989547   OMIM: 6093675   UniProtKB: Q96EK53   

Export aliases for KIAA1279 gene to outside databases

Previous GC identifers: GC10P070093 GC10P070418 GC10P064750


(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 KIAA1279 Gene:
This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide
repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the
mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. (provided by
RefSeq, Mar 2010)

GeneCards Summary for KIAA1279 Gene: 
KIAA1279 (KIAA1279) is a protein-coding gene. Diseases associated with KIAA1279 include megacolon, and goldberg-shprintzen megacolon syndrome. GO annotations related to this gene include protein binding and kinesin binding.

UniProtKB/Swiss-Prot: KBP_HUMAN, Q96EK5
Function: Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral
and central nervous system development. Regulates mitochondrial transport by modulating KIF1B motor activity

Gene Wiki entry for KIAA1279 Gene


(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_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIAA1279 gene promoter:
         ER-alpha   C/EBPbeta   AML1a   p53   Gfi-1   AREB6   HEN1   FOXJ2 (long isoform)   SEF-1 (1)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIAA1279 promoter sequence
   Search SABiosciences Chromatin IP Primers for KIAA1279

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1279


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

Entrez Gene cytogenetic band: 10q22.1   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q22.1

KIAA1279 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1279 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P070748:  view genomic region     (about GC identifiers)

Start:
70,748,477 bp from pter      End:
70,776,739 bp from pter
Size:
28,263 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: KBP_HUMAN, Q96EK5 (See protein sequence)
Recommended Name: KIF1-binding protein  
Size: 621 amino acids; 71814 Da
Subunit: Interacts with KIF1B
Subcellular location: Mitochondrion
Sequence caution: Sequence=BAA86593.1; Type=Erroneous initiation;
Secondary accessions: A8K5M8 Q9BR89 Q9ULE1 Q9Y428

Explore the universe of human proteins at neXtProt for KIAA1279: NX_Q96EK5

Explore proteomics data for KIAA1279 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96EK5

  • KIAA1279 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIAA1279 Protein Expression
    REFSEQ proteins: NP_056449.1  
    ENSEMBL proteins: 
     ENSP00000354848  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16225668
    GO:0005856cytoskeleton IEA--

    KIAA1279 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
    2 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR022083 KBP

    Graphical View of Domain Structure for InterPro Entry Q96EK5

    ProtoNet protein and cluster: Q96EK5

    UniProtKB/Swiss-Prot: KBP_HUMAN, Q96EK5
    Similarity: Belongs to the KIF1-binding protein family


    KIAA1279 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: KBP_HUMAN, Q96EK5
    Function: Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral
    and central nervous system development. Regulates mitochondrial transport by modulating KIF1B motor activity

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
    GO:0019894kinesin binding IPI16225668
         
    KIAA1279 for ontologies           About GeneDecksing


    Animal Models:
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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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KIAA1279

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/618 Interacting proteins for KIAA1279 (Q96EK51, 2, 3 ENSP000003548484) via UniProtKB, MINT, STRING, and/or I2D (see all 618)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RGRP478041, 2, 3, ENSP000003524274EBI-744150,EBI-745818 MINT-66728 I2D: score=6 STRING: ENSP00000352427
    ZNF638Q149662, 3, ENSP000002644474MINT-7945693 MINT-66586 I2D: score=5 STRING: ENSP00000264447
    ZNF670Q9BS342, 3, ENSP000003554594MINT-66643 I2D: score=5 STRING: ENSP00000355459
    ZNF670-ZNF695Q9BS342, 3MINT-66643 I2D: score=5 
    PLEKHF1Q96S992, 3MINT-67493 I2D: score=5 
    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:0006839mitochondrial transport IMP16225668
    GO:0007399nervous system development IEA--
    GO:0030154cell differentiation IEA--

    KIAA1279 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 KIAA1279 (KBP)

    Search CenterWatch for drugs/clinical trials and news about KIAA1279 / KBP

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIAA1279 gene: 
    NM_015634.3  

    Unigene Cluster for KIAA1279:

    KIAA1279
    Hs.279580  [show with all ESTs]
    Unigene Representative Sequence: NM_015634
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361983(uc001joy.3) ENST00000481912

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    Additional mRNA sequence: 

    AB033105.1 AK291343.1 AL050190.1 BC006427.1 BC012180.1 

    7 DOTS entries:

    DT.217288  DT.121268203  DT.91765526  DT.95231700  DT.121268199  DT.75115708  DT.91765525 

    24/196 AceView cDNA sequences (see all 196):

    AA385200 AA449827 BM727252 AA670043 BM836416 AL050190 CR593211 AI306690 
    BM772293 AA324124 BE504395 AA309057 BE221180 AW078615 BC012180 AW275221 
    CD245107 AA912428 AW275245 BM832522 AB033105 BI963898 AA862713 BM354108 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1279    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8
    SP1:              -                             -                     
    SP2:              -                                                   
    SP3:                                                                  


    ECgene alternative splicing isoforms for KIAA1279

    (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

    KIAA1279 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATTTGTAT
    KIAA1279 Expression
    About this image


    See KIAA1279 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIAA1279

    SOURCE GeneReport for Unigene cluster: Hs.279580

    UniProtKB/Swiss-Prot: KBP_HUMAN, Q96EK5
    Tissue specificity: Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions
    examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver
    and brain. Not expressed in blood leukocytes

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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.

    Orthologs for KIAA1279 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2510003E04Rik1 , 5 RIKEN cDNA 2510003E04 gene1, 5 85.52(n)1
    92.54(a)1
      10 (32.43 cM)5
    723201  NM_028197.21  NP_082473.21 
     625386265 
    chicken
    (Gallus gallus)
    Aves KIAA12791 KIAA1279 73.01(n)
    70.5(a)
      423694  NM_001007944.1  NP_001007945.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA12796
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343215.1(1931421-1944586)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.168632 Xenopus laevis transcribed sequence with weak similarity more 72.8(n)    BU915488.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kbp1 kif1-binding protein 59.27(n)
    55.27(a)
      100002194  NM_001013462.3  NP_001013480.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG140431 CG14043 46.66(n)
    32.11(a)
      33714  NM_135042.2  NP_608886.1 


    ENSEMBL Gene Tree for KIAA1279 (if available)
    TreeFam Gene Tree for KIAA1279 (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

    10/640 SNPs in KIAA1279 are shown (see all 640)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214345151,2
    Cpathogenic171122628(+) AGCCCG/TAGGGG 2 E * stg10--------
    rs1214345141,2
    Cpathogenic171122646(+) CCCAGC/TGAGCG 2 R * stg10--------
    rs340147651,2
    C--64757072(+) ATAAA-/CTCCATTT 1 -- int10--------
    rs558528171,2
    C--64760352(+) TATAT-/A/AT  
      ATATAT
    TTTTT
    1 -- int10--------
    rs31212161,2
    C--64760353(+) TATATA/TTTTTT 1 -- int1 trp31Minor allele frequency- T:0.00NA 2
    rs351043511,2
    C--64770085(+) AAAAA-/A/AA  
      AT
    /ATA
    TATAT
    2 -- int1 cds11NA 2
    rs344118011,2
    C--64776416(+) ATTTGC/-CCCCC 1 -- int11Minor allele frequency- -:0.50NA 2
    rs603047621,2
    C--70746927(+) AAAAAA/-GTGCA 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs345662181,2
    C--70751727(+) GTGGGT/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs771331261,2
    C--70756624(+) TAAAA-/TTAAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for KIAA1279 (70748477 - 70776739 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KIAA1279:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1000949CNV Insertion20482838
    nsv519999CNV Loss19592680
    nsv831907CNV Gain17160897


    Human Gene Mutation Database (HGMD): KIAA1279
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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: 609367   
    OMIM disorders: 609460  
    UniProtKB/Swiss-Prot: KBP_HUMAN, Q96EK5
  • Goldberg-Shprintzen megacolon syndrome (GOSHS) [MIM:609460]: A disorder characterized by Hirschsprung
    disease, microcephaly, hypertelorism, submucous cleft palate, short stature, and developmental delay. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for KIAA1279:    About MalaCards
    megacolon    goldberg-shprintzen megacolon syndrome    pasteurellosis    pseudobulbar palsy
    periventricular nodular heterotopia    dendritic cell sarcoma    velocardiofacial syndrome    hirschsprung's disease
    microcephaly    mental retardation    sarcoma    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for KIAA1279:
    Pseudobulbar palsy

    KIAA1279 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): KIAA1279
    Human Genome Epidemiology (HuGE) Navigator: KIAA1279 (1 document)

    Export disorders for KIAA1279 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 KIAA1279 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with KIAA1279)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    2. The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein. (PubMed id 16225668)1, 2 Wozniak M.J.... Lammers R. (2005)
    3. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. (PubMed id 15883926)1, 2 Brooks A.S.... Hofstra R.M.W. (2005)
    4. 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)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    6. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
    7. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    8. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge 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: 26128 HGNC: 23419 AceView: KIAA1279 Ensembl:ENSG00000198954 euGenes: HUgn26128
    ECgene: KIAA1279 H-InvDB: KIAA1279

    (According to HUGE)
    About This Section
    HUGE: KIAA1279

    (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 KIAA1279 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 KIAA1279 gene:
    Search GeneIP for patents involving KIAA1279

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



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