Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

DEK

Identity

HGNC (Hugo) DEK
Location 6p23
Location_base_pair Starts at 18332381 and ends at 18372778 bp from pter ( according to hg18-Mar_2006)  [Mapping]
 
  DEK (6p23) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description spans on a 40 kb genomic segment
Transcription 2.7 kb mRNA; coding sequence: 1.1 kb

Protein

Description 375 amino acids; 43 kDa; contains numerous acidic domains (Asp/Glu rich) and a nuclear localisation signal
Expression wide
Localisation potentially nuclear
Function site specific DNA binding protein involved in transcriptional regulation and signal transduction

Implicated in

Entity t(6;9)(p23;q34)/ANLL or MDS -->DEK-CAN
Disease M2, M4 ANLL or MDS
Prognosis remission difficult to obtain
Cytogenetics this chromosome anomaly may be over loocked
Hybrid/Mutated Gene 5' DEK - 3' CAN; chromosome 6 breakpoint clusters in a single intron
Abnormal Protein head to tail DEK/CAN fusion protein (the alternative SET/CAN is exceptional); almost the entire DEK protein fused to the C-terminal two-thirds of the CAN protein; nuclear localization
  

External links

Nomenclature
HGNC (Hugo)DEK   2768
Entrez_Gene (NCBI)DEK  7913  DEK oncogene
Cards
AtlasDEK_23
GeneCards (Weizmann)DEK
Ensembl (Hinxton)ENSG00000124795 [Gene_View]  DEK [Vega]
AceView (NCBI)DEK
Genatlas (Paris)DEK
euGene (Indiana)7913
SOURCE (Stanford)NM_001134709 NM_003472
Genomic and cartography
GoldenPath (UCSC)DEK  -  6p23   chr6:18332381-18372778 -  6p22.3   [Description]    (hg18-Mar_2006)
EnsemblDEK - 6p22.3 [CytoView]
Mapping of homologs : NCBIDEK [Mapview]
OMIM125264   
Gene and transcription
Gene : Genbank (Entrez)AJ270688 AJ420539 AK294079 AK297749 AK298089
Reference sequence (RefSeq transcript) :SRSNM_001134709 NM_003472
Reference transcript : EntrezNM_001134709 NM_003472
RefSeq genomic : SRSAC_000049 AC_000138 NC_000006 NT_007592 NW_001838973 NW_922984
RefSeq genomic : EntrezAC_000049 AC_000138 NC_000006 NT_007592 NW_001838973 NW_922984
Consensus coding sequences : CCDS NCBIDEK
Cluster EST : UnigeneHs.484813 [ SRS ] Hs.484813 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3147
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP35659 (SRS) P35659 (Expasy) P35659 (Uniprot)
With graphics : InterProP35659
Splice isoforms : VarSplice FASTAP35659(VarSplice FASTA)
Domaine pattern : Prosite (SRS)SAP (PS50800)   
Domain pattern : Prosite (Expaxy)SAP (PS50800)   
Domains : Interpro (SRS)DEK_C    SAP_DNA_bd   
Domains : Interpro (EBI)DEK_C    SAP_DNA_bd   
Related proteins : CluSTrP35659
Domain families : Pfam SRSDEK_C (PF08766)    SAP (PF02037)   
Domain families : Pfam SangerDEK_C (PF08766)    SAP (PF02037)   
Domain families : Pfam NCBIpfam08766    pfam02037   
Domain families : Smart EMBLSAP (SM00513)
Blocks (Seattle)P35659
Crystal structure of protein : PDB SRS1Q1V    2JX3   
Crystal structure of protein : PDBSum1Q1V    2JX3   
Crystal structure of protein : IMB1Q1V    2JX3   
Crystal structure of protein : PDB RSDB1Q1V    2JX3   
HPRD00503
Protein Interaction databases
DIP (DOE-UCLA)P35659
IntAct (EBI)P35659
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIDEK
SNP : GeneSNP UtahDEK
SNP : HGBaseDEK
Genetic variants : HAPMAPDEK
Somatic Mutations in Cancer : COSMICDEK 
Translocation Breakpoints in Cancer : TICdbDEK 
Mutations and Diseases : HGMDDEK
Hereditary diseases : OMIM125264   
Hereditary diseases : GENETests125264   
Diseases : Genetic AssociationDEK
General knowledge
Homologs : HomoloGeneDEK
Homology/Alignments : Family Browser UCSCDEK
Phylogenetic Trees/Animal Genes : TreeFamDEK
Chemical/Protein Interactions : CTD7913
Keywords Ontology : AmiGODNA binding  specific RNA polymerase II transcription factor activity  nucleus  regulation of transcription from RNA polymerase II promoter  signal transduction  viral genome replication  histone binding  
Keywords Ontology : EGO-EBIDNA binding  specific RNA polymerase II transcription factor activity  nucleus  regulation of transcription from RNA polymerase II promoter  signal transduction  viral genome replication  histone binding  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesDEK Related clones (RZPD - Berlin)
Literature
PubMed53 Pubmed reference(s) in Entrez
PubGeneDEK

Bibliography

The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA.
von Lindern M, Fornerod M, van Baal S, Jaegle M, de Wit T, Buijs A, Grosveld G
Molecular and cellular biology. 1992 ; 12 (4) : 1687-1697.
PMID 1549122
 
Relocation of the carboxyterminal part of CAN from the nuclear envelope to the nucleus as a result of leukemia-specific chromosome rearrangements.
Fornerod M, Boer J, van Baal S, Jaeglˆ© M, von Lindern M, Murti KG, Davis D, Bonten J, Buijs A, Grosveld G
Oncogene. 1995 ; 10 (9) : 1739-1748.
PMID 7753551
 
Interaction of cellular proteins with the leukemia specific fusion proteins DEK-CAN and SET-CAN and their normal counterpart, the nucleoporin CAN.
Fornerod M, Boer J, van Baal S, Morreau H, Grosveld G
Oncogene. 1996 ; 13 (8) : 1801-1808.
PMID 8895527
 
DEK, an autoantigen involved in a chromosomal translocation in acute myelogenous leukemia, binds to the HIV-2 enhancer.
Fu GK, Grosveld G, Markovitz DM
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (5) : 1811-1815.
PMID 9050861
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written01-1998Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . DEK. Atlas Genet Cytogenet Oncol Haematol. January 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/DEK_23.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 16:39:58 CEST 2009

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.