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

    Gene ID: 7913, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:2768
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DEK in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (18223860..18264530, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (18096002..18136672, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (18224091..18264761, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:18146951-18148150 Neighboring gene thiopurine S-methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24117 Neighboring gene lysine demethylase 1B Neighboring gene MPRA-validated peak5710 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24119 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:18227006-18227518 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:18227519-18228032 Neighboring gene Sharpr-MPRA regulatory region 13525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24120 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:18263885-18264436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16973 Neighboring gene uncharacterized LOC124901270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16974 Neighboring gene RNA, U6 small nuclear 263, pseudogene

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of B-WICH complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in contractile muscle fiber IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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_001134709.2NP_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, AL031774, BC035259, BQ574048
      Consensus CDS
      CCDS47382.1
      UniProtKB/TrEMBL
      B4DNW3
      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
      B2R6K6, B4DN37, P35659, Q5TGV4, Q5TGV5
      UniProtKB/TrEMBL
      B4DNW3
      Related
      ENSP00000498653.1, ENST00000652689.1
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      18223860..18264530 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446544.2XP_024302312.1  protein DEK isoform X1

      UniProtKB/Swiss-Prot
      B2R6K6, B4DN37, P35659, Q5TGV4, Q5TGV5
      UniProtKB/TrEMBL
      B4DNW3
      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_047419335.1XP_047275291.1  protein DEK isoform X2

      UniProtKB/TrEMBL
      H0Y8X0
      Related
      ENSP00000422380.2, ENST00000515770.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      18096002..18136672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356377.1XP_054212352.1  protein DEK isoform X1

      UniProtKB/Swiss-Prot
      B2R6K6, B4DN37, P35659, Q5TGV4, Q5TGV5
      UniProtKB/TrEMBL
      B4DNW3
    2. XM_054356379.1XP_054212354.1  protein DEK isoform X2

      UniProtKB/TrEMBL
      H0Y8X0
    3. XM_054356378.1XP_054212353.1  protein DEK isoform X2

      UniProtKB/TrEMBL
      H0Y8X0