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

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: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (18223860..18264530, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (18096002..18136672, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (18224091..18264761, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Imaging-based study demonstrates how the DEK nanoscale distribution differentially correlates with epigenetic marks in a breast cancer model.
Title: Imaging-based study demonstrates how the DEK nanoscale distribution differentially correlates with epigenetic marks in a breast cancer model.
The impact of the chromatin binding DEK protein in hematopoiesis and acute myeloid leukemia.
Title: The impact of the chromatin binding DEK protein in hematopoiesis and acute myeloid leukemia.
Role of DEK in carcinogenesis, diagnosis, prognosis, and therapeutic outcome of breast cancer: An evidence-based clinical review.
Title: Role of DEK in carcinogenesis, diagnosis, prognosis, and therapeutic outcome of breast cancer: An evidence-based clinical review.
Doxorubicin induces prolonged DNA damage signal in cells overexpressing DEK isoform-2.
Title: Doxorubicin induces prolonged DNA damage signal in cells overexpressing DEK isoform-2.
p21-activated kinase 2 binds to transcription factor SOX2 and up-regulates DEK to promote the progression of lung squamous cell carcinoma.
Title: p21-activated kinase 2 binds to transcription factor SOX2 and up-regulates DEK to promote the progression of lung squamous cell carcinoma.
In silico gene expression and pathway analysis of DEK in the human brain across the lifespan.
Title: In silico gene expression and pathway analysis of DEK in the human brain across the lifespan.
Long Non-Coding LEF1-AS1 Sponge miR-5100 Regulates Apoptosis and Autophagy in Gastric Cancer Cells via the miR-5100/DEK/AMPK-mTOR Axis.
Title: Long Non-Coding LEF1-AS1 Sponge miR-5100 Regulates Apoptosis and Autophagy in Gastric Cancer Cells via the miR-5100/DEK/AMPK-mTOR Axis.
DEK modulates both expression and alternative splicing of cancerrelated genes.
Title: DEK modulates both expression and alternative splicing of cancer‑related genes.
DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base: Detailed Clinicopathologic Characterization of a Distinctive Entity.
Title: DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base: Detailed Clinicopathologic Characterization of a Distinctive Entity.
KIF15 upregulation promotes leiomyosarcoma cell growth via promoting USP15-mediated DEK deubiquitylation.
Title: KIF15 upregulation promotes leiomyosarcoma cell growth via promoting USP15-mediated DEK deubiquitylation.

Submit: New GeneRIF Correction See all GeneRIFs (104)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-36399 (e-PCR)
- UniSTS:23830

D6S2051 (e-PCR)
- UniSTS:83001

SHGC-35904 (e-PCR)
- UniSTS:64065

WI-19135 (e-PCR)
- UniSTS:27213

RH46609 (e-PCR)
- UniSTS:64110

STS-X64229 (e-PCR)
- UniSTS:17299

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	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

Process	Evidence Code	Pubs
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase I	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase III	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of double-strand break repair via nonhomologous end joining	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in viral genome replication	TAS Traceable Author Statement 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

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Preferred Names: protein DEK

Names: DEK oncogene (DNA binding)

NCBI Reference Sequences (RefSeq)

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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

NG_042290.1 RefSeqGene

Range

5039..45709

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1375

mRNA and Protein(s)

NM_001134709.2 → NP_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:115 → 149

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

pfam08766
Location:288 → 340

DEK_C; DEK C terminal domain
NM_003472.4 → NP_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:149 → 183

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

pfam08766
Location:320 → 374

DEK_C; DEK C terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

18223860..18264530 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024446544.2 → XP_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:149 → 183

SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation

pfam08766
Location:320 → 374

DEK_C; DEK C terminal domain
XM_047419335.1 → XP_047275291.1 protein DEK isoform X2

UniProtKB/TrEMBL

H0Y8X0

Related

ENSP00000422380.2, ENST00000515770.2