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

2007-01-01   Etienne De Plaen 

Ludwig Institute for Cancer Research- Brussels branch, Avenue Hippocrate 74 - UCL 7459, B-1200 Brussels, Belgium

Identity

HGNC
LOCATION
6q13
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
CT13,HAGE
FUSION GENES

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.

Proteins

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

Entity name
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

Pubmed IDLast YearTitleAuthors
123999672002Frequent expression of HAGE in presentation chronic myeloid leukaemias.Adams SP et al
108202912000High frequency of autologous anti-melanoma CTL directed against an antigen generated by a point mutation in a new helicase gene.Baurain JF et al
109196592000Identification on a human sarcoma of two new genes with tumor-specific expression.Martelange V et al
128907442003Analysis 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 et al

Other Information

Locus ID:

NCBI: 55510
MIM: 606286
HGNC: 18677
Ensembl: ENSG00000080007

Variants:

dbSNP: 55510
ClinVar: 55510
TCGA: ENSG00000080007
COSMIC: DDX43

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080007ENST00000370336Q9NXZ2

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
223930602012The helicase HAGE expressed by malignant melanoma-initiating cells is required for tumor cell proliferation in vivo.15
200588532010HAGE, a cancer/testis antigen expressed at the protein level in a variety of cancers.14
248996842014Overexpression of DDX43 mediates MEK inhibitor resistance through RAS Upregulation in uveal melanoma cells.10
245257372014The helicase HAGE prevents interferon-α-induced PML expression in ABCB5+ malignant melanoma-initiating cells by promoting the expression of SOCS1.9
294496952018Arresting of miR-186 and releasing of H19 by DDX43 facilitate tumorigenesis and CML progression.9
174874882007HAGE, a cancer/testis antigen with potential for melanoma immunotherapy: identification of several MHC class I/II HAGE-derived immunogenic peptides.7
262402762016HAGE in Triple-Negative Breast Cancer Is a Novel Prognostic, Predictive, and Actionable Biomarker: A Transcriptomic and Protein Expression Analysis.5
284688242017The DEAD-box protein DDX43 (HAGE) is a dual RNA-DNA helicase and has a K-homology domain required for full nucleic acid unwinding activity.5
220409652011Gene expression of helicase antigen in patients with acute and chronic myeloid leukemia.4
225636732012Aberrant hypomethylation of DDX43 promoter in myelodysplastic syndrome.4

Citation

Etienne De Plaen

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

Atlas Genet Cytogenet Oncol Haematol. 2007-01-01

Online version: http://atlasgeneticsoncology.org/gene/40288/ddx43