DDX43 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 43)
2007-01-01 Etienne De Plaen   AffiliationLudwig Institute for Cancer Research- Brussels branch, Avenue Hippocrate 74 - UCL 7459, B-1200 Brussels, Belgium
Identity
HGNC
LOCATION
6q13
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12399967 | 2002 | Frequent expression of HAGE in presentation chronic myeloid leukaemias. | Adams SP et al |
| 10820291 | 2000 | High frequency of autologous anti-melanoma CTL directed against an antigen generated by a point mutation in a new helicase gene. | Baurain JF et al |
| 10919659 | 2000 | Identification on a human sarcoma of two new genes with tumor-specific expression. | Martelange V et al |
| 12890744 | 2003 | 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 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 ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000080007 | ENST00000370336 | Q9NXZ2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37200388 | 2023 | DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer. | 1 |
| 37200388 | 2023 | DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer. | 1 |
| 31623828 | 2019 | DDX43 prefers single strand substrate and its full binding activity requires physical connection of all domains. | 4 |
| 31623828 | 2019 | DDX43 prefers single strand substrate and its full binding activity requires physical connection of all domains. | 4 |
| 29449695 | 2018 | Arresting of miR-186 and releasing of H19 by DDX43 facilitate tumorigenesis and CML progression. | 15 |
| 29449695 | 2018 | Arresting of miR-186 and releasing of H19 by DDX43 facilitate tumorigenesis and CML progression. | 15 |
| 28468824 | 2017 | The DEAD-box protein DDX43 (HAGE) is a dual RNA-DNA helicase and has a K-homology domain required for full nucleic acid unwinding activity. | 18 |
| 29044003 | 2017 | Expression and significance of DDX43 in lung adenocarcinoma. | 3 |
| 28468824 | 2017 | The DEAD-box protein DDX43 (HAGE) is a dual RNA-DNA helicase and has a K-homology domain required for full nucleic acid unwinding activity. | 18 |
| 29044003 | 2017 | Expression and significance of DDX43 in lung adenocarcinoma. | 3 |
| 26240276 | 2016 | HAGE in Triple-Negative Breast Cancer Is a Novel Prognostic, Predictive, and Actionable Biomarker: A Transcriptomic and Protein Expression Analysis. | 8 |
| 26240276 | 2016 | HAGE in Triple-Negative Breast Cancer Is a Novel Prognostic, Predictive, and Actionable Biomarker: A Transcriptomic and Protein Expression Analysis. | 8 |
| 24525737 | 2014 | The helicase HAGE prevents interferon-α-induced PML expression in ABCB5+ malignant melanoma-initiating cells by promoting the expression of SOCS1. | 9 |
| 24656837 | 2014 | DDX43 promoter is frequently hypomethylated and may predict a favorable outcome in acute myeloid leukemia. | 10 |
| 24899684 | 2014 | Overexpression of DDX43 mediates MEK inhibitor resistance through RAS Upregulation in uveal melanoma cells. | 14 |
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
