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    DEK DEK proto-oncogene [ Homo sapiens (human) ]

    Gene ID: 7913, updated on 12-May-2019

    Summary

    Official Symbol
    DEKprovided by HGNC
    Official Full Name
    DEK proto-oncogeneprovided by HGNC
    Primary source
    HGNC:HGNC:2768
    See related
    Ensembl:ENSG00000124795 MIM:125264
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    D6S231E
    Summary
    This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 58.8), thyroid (RPKM 53.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See DEK in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (18224169..18264568, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (18224400..18264799, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene thiopurine S-methyltransferase Neighboring gene lysine demethylase 1B Neighboring gene RNA, U6 small nuclear 263, pseudogene Neighboring gene DEAD-box helicase 18 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • B-WICH complex positively regulates rRNA expression, organism-specific biosystem (from REACTOME)
      B-WICH complex positively regulates rRNA expression, organism-specific biosystemThe B-WICH complex is a large 3 Mdalton complex containing SMARCA5 (SNF2H), BAZ1B (WSTF), ERCC6 (CSB), MYO1C (Nuclear myosin 1c) (Cavellan et al. 2006, Percipalle et al. 2006, Vintermist et al. 2001,...
    • Epigenetic regulation of gene expression, organism-specific biosystem (from REACTOME)
      Epigenetic regulation of gene expression, organism-specific biosystemEpigenetic processes regulate gene expression by modulating the frequency, rate, or extent of gene expression in a mitotically or meiotically heritable way that does not entail a change in the DNA se...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Positive epigenetic regulation of rRNA expression, organism-specific biosystem (from REACTOME)
      Positive epigenetic regulation of rRNA expression, organism-specific biosystemTranscription of rRNA genes is controlled by epigenetic activation and repression (reviewed in Percipalle and Farrants 2006, McStay and Grummt 2008, Goodfellow and Zomerdijk 2012, Grummt and Langst 2...
    • Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystem (from REACTOME)
      Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, organism-specific biosystemThe AP-2 (TFAP2) family of transcription factors includes five proteins in mammals: TFAP2A (AP-2 alpha), TFAP2B (AP-2 beta), TFAP2C (AP-2 gamma), TFAP2D (AP-2 delta) and TFAP2E (AP-2 epsilon). The AP...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding HDA PubMed 
    histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression, epigenetic TAS
    Traceable Author Statement
    more info
     
    regulation of double-strand break repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of double-strand break repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    viral genome replication TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein DEK
    Names
    DEK oncogene (DNA binding)

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042290.1 RefSeqGene

      Range
      5039..45709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1375

    mRNA and Protein(s)

    1. NM_001134709.1NP_001128181.1  protein DEK isoform 2

      See identical proteins and their annotated locations for NP_001128181.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK297749, AU131262, BC035259, BQ574048
      Consensus CDS
      CCDS47382.1
      UniProtKB/Swiss-Prot
      P35659
      Related
      ENSP00000244776.7, ENST00000244776.11
      Conserved Domains (2) summary
      smart00513
      Location:115149
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      pfam08766
      Location:288340
      DEK_C; DEK C terminal domain
    2. NM_003472.4NP_003463.1  protein DEK isoform 1

      See identical proteins and their annotated locations for NP_003463.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL031774, BC035259, CN388433
      Consensus CDS
      CCDS34344.1
      UniProtKB/Swiss-Prot
      P35659
      Related
      ENSP00000380414.3, ENST00000397239.8
      Conserved Domains (2) summary
      smart00513
      Location:149183
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      pfam08766
      Location:320374
      DEK_C; DEK C terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      18224169..18264568 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446544.1XP_024302312.1  protein DEK isoform X2

      Related
      ENSP00000498335.1, ENST00000652576.1
      Conserved Domains (2) summary
      smart00513
      Location:149183
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      pfam08766
      Location:320374
      DEK_C; DEK C terminal domain
    2. XM_017011273.2XP_016866762.1  protein DEK isoform X1

      Related
      ENSP00000423427.2, ENST00000507591.2
      Conserved Domains (2) summary
      smart00513
      Location:149183
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      pfam08766
      Location:320373
      DEK_C; DEK C terminal domain
    3. XM_024446543.1XP_024302311.1  protein DEK isoform X1

      Conserved Domains (2) summary
      smart00513
      Location:149183
      SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
      pfam08766
      Location:320373
      DEK_C; DEK C terminal domain

    RNA

    1. XR_001743635.2 RNA Sequence

      Related
      ENST00000515770.2
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