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

Gene ID: 7913, updated on 9-Dec-2018

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 double-strand break repair via nonhomologous end joining IEA
Inferred from Electronic Annotation
more info
 
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
contractile fiber IEA
Inferred from Electronic Annotation
more info
 
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
    5001..45400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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, ENST00000397239.7
    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

    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

    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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