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DDX43 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 43)

Written2007-01Etienne De Plaen
Ludwig Institute for Cancer Research- Brussels branch, Avenue Hippocrate 74 - UCL 7459, B-1200 Brussels, Belgium

(Note : for Links provided by Atlas : click)

Identity

Other aliasHAGE (for Helicase AntiGEn)
DKFZp434H2114
LocusID (NCBI) 55510
Atlas_Id 40288
Location 6q13  [Link to chromosome band 6q13]
Location_base_pair Starts at and ends at bp from pter
Local_order between markers GATA11B08 and D6S284
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DDX43 (6q13) / NUDCD3 (7p13)
Note This gene was isolated as a cDNA by applying a subtraction approach named representational difference analysis (RDA). Rhabdomyosarcoma LB23-SAR was used as the source of tester cDNA that was subtracted with driver cDNA, a mixture of human uterus, breast, heart, and colon cDNA.

DNA/RNA

Transcription The transcript is about 2.2 kb. Gene HAGE is weakly transcribed in normal tissues: the level of expression was estimated to represent only 0.2% of the level found in the LB23-SAR reference cell line. The only exception is testis, which shows a level of expression comparable to that of LB23-SAR. Gene HAGE was found to be expressed in 90 out of 383 tumor samples of different histological types, well above the level in normal tissues; about 5% of the positive samples showed a level of expression above 10% of the level of LB23-SAR, and 7% showed a level of expression between 1-10%. Expression of HAGE was induced in fibroblasts after treatment with the demethylating agent, 5-aza-2'-deoxycytidine.

Protein

Description The largest open reading frame comprises 1,944 nucleotides and encodes a protein of 648 amino acids (72,871 Da). The pKi of the protein is 9.29.
Function Comparison with databases revealed that HAGE shows 55% similarity with the human p68 protein, an ATP-dependent RNA helicase that is a member of the DEAD-box proteins. Four motifs that are present in members of the DEAD box family are conserved in the HAGE protein. However, ATPase and helicase activities of HAGE were not demonstrated.

Mutations

Note No mutation was observed in the HAGE cDNA isolated from LB23-SAR.

Implicated in

Note
  
Entity Tumors
Note HAGE expression can be induced by demethylating agent 5-azadeoxycytidine, suggesting that demethylation plays a role in the activation of these genes in tumors. Activation of HAGE in tumor cells most likely results therefore from the genome-wide demethylation process that is known to occur in these cells.
Oncogenesis HAGE is not the first case of a DEAD-box protein that is overexpressed in tumors. Moreover, it worth noting that one out of 42 discovered mutated human tumor antigens is produced by a point mutation in a gene named MUM-3. This gene encodes a protein with homology with members of the RNA helicase family. These observations suggest that mutated or overexpressed helicases may contribute to tumoral transformation or progression.
  

Bibliography

Frequent expression of HAGE in presentation chronic myeloid leukaemias.
Adams SP, Sahota SS, Mijovic A, Czepulkowski B, Padua RA, Mufti GJ, Guinn BA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2002 ; 16 (11) : 2238-2242.
PMID 12399967
 
High frequency of autologous anti-melanoma CTL directed against an antigen generated by a point mutation in a new helicase gene.
Baurain JF, Colau D, van Baren N, Landry C, Martelange V, Vikkula M, Boon T, Coulie PG
Journal of immunology (Baltimore, Md. : 1950). 2000 ; 164 (11) : 6057-6066.
PMID 10820291
 
Identification on a human sarcoma of two new genes with tumor-specific expression.
Martelange V, De Smet C, De Plaen E, Lurquin C, Boon T
Cancer research. 2000 ; 60 (14) : 3848-3855.
PMID 10919659
 
Analysis of the tumour suppressor genes, FHIT and WT-1, and the tumour rejection genes, BAGE, GAGE-1/2, HAGE, MAGE-1, and MAGE-3, in benign and malignant neoplasms of the salivary glands.
Nagel H, Laskawi R, Eiffert H, Schlott T
Molecular pathology : MP. 2003 ; 56 (4) : 226-231.
PMID 12890744
 

Citation

This paper should be referenced as such :
De Plaen, E
DDX43 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 43)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(2):119-120.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/DDX43ID40288ch6q13.html


External links

Nomenclature
Cards
AtlasDDX43ID40288ch6q13.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)55510
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:33:36 CEST 2018

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