DDX17: DEAD-Box Helicase 17
RNA Helicase Involved in Transcriptional Regulation and RNA Processing
Gene Information Card
| Symbol | DDX17 |
|---|---|
| Full Name | DEAD-box helicase 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 10521 ncbi.nlm.nih.gov/gene/10521 |
| Ensembl ID | ENSG00000100201 |
| UniProt ID | Q92841 |
| OMIM ID | 608469 |
| HGNC ID | 2740 |
| Aliases | P72, RH70, DEAD box protein 17 |
Description
DDX17 (DEAD-box helicase 17) encodes a member of the DEAD-box RNA helicase family. The protein is involved in multiple aspects of RNA metabolism including transcription, pre-mRNA splicing, and ribosome biogenesis. It acts as a coactivator for several transcription factors and plays a role in microRNA processing. DDX17 is implicated in cancer progression and viral replication.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | DDX17 overexpression promotes cell proliferation and metastasis via regulation of oncogenic pathways | PMID: 25605274 |
| Colorectal Cancer | DDX17 upregulation correlates with poor prognosis and enhances Wnt/β-catenin signaling | PMID: 29367642 |
| Hepatocellular Carcinoma | DDX17 knockdown reduces tumor growth and invasion through modulation of EMT markers | PMID: 31065062 |
| Prostate Cancer | DDX17 interacts with androgen receptor to regulate target gene expression | PMID: 23541922 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Heart | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Liver | 10.1 | Medium |
| Lung | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.3 | Cervical cancer cell line |
| HEK293 | 18.7 | Embryonic kidney cells |
| MCF7 | 25.1 | Breast cancer cell line |
| HepG2 | 20.4 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1250A>G (p.Asn417Ser) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1873C>T (p.Arg625Trp) | Missense | 0.005% (gnomAD) | Potential loss of helicase activity |
| c.2146G>A (p.Gly716Arg) | Missense | 0.002% (COSMIC) | Reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in helicase domain (e.g., p.Arg625Trp) may impair ATPase and RNA unwinding activity.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
Not well characterized; dominant-negative effects possible through dimerization interference.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity | • ATP binding |
| • nucleic acid binding | • mRNA splicing |
| • via spliceosome | • regulation of transcription |
| • DNA-templated | • ribosome biogenesis |
Pathways
• Spliceosome
• MicroRNA biogenesis
• Wnt signaling pathway
• Androgen receptor signaling
Protein Summary
DDX17 is a 739-amino acid DEAD-box RNA helicase that localizes to the nucleus. It contains conserved helicase motifs and an N-terminal Q motif. The protein unwinds RNA duplexes in an ATP-dependent manner and interacts with transcription factors such as p53, MyoD, and androgen receptor. DDX17 also participates in the Drosha complex for microRNA processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX17 Knockout HEK293 Cell Line | EDJ-KQ7080 | Human | 10521 | Details Get a Quote |
| DDX17 Knockout A-549 Cell Line | EDJ-KQ30527 | Human | 10521 | Details Get a Quote |
| DDX17 Knockout HCT 116 Cell Line | EDJ-KQ31910 | Human | 10521 | Details Get a Quote |
| DDX17 Knockout HeLa Cell Line | EDJ-KQ31911 | Human | 10521 | Details Get a Quote |
