DDX39A
DExD-box helicase 39A
Gene Information Card
| Symbol | DDX39A |
|---|---|
| Full Name | DExD-box helicase 39A |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.12 |
| NCBI Gene ID | 10212 ncbi.nlm.nih.gov/gene/10212 |
| Ensembl ID | ENSG00000123159 |
| UniProt ID | O00148 |
| OMIM ID | 602912 |
| HGNC ID | 2734 |
| Aliases | DDX39, URH49, DDX39L1 |
Description
DDX39A encodes a member of the DEAD-box family of RNA helicases, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD). This protein is involved in pre-mRNA splicing, mRNA export, and ribosome biogenesis. It plays a role in cell cycle regulation and is overexpressed in various cancers, contributing to tumor proliferation and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell proliferation and invasion | PMID: 28431214 |
| Lung cancer | Upregulation correlates with poor prognosis and metastasis | PMID: 29593339 |
| Hepatocellular carcinoma | Enhanced expression drives tumor growth via RNA processing | PMID: 30348676 |
| Colorectal cancer | DDX39A knockdown reduces cell viability and migration | PMID: 31065123 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Bone marrow | 25.1 | Medium |
| Lymph node | 22.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.0 | Cervical cancer cell line |
| A549 | 38.7 | Lung cancer cell line |
| MCF7 | 42.1 | Breast cancer cell line |
| HepG2 | 30.5 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Glu349Lys) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1322C>T (p.Thr441Met) | Missense | 0.01% (gnomAD) | Reported in COSMIC as somatic in colorectal cancer |
| c.1567_1569del (p.Lys523del) | In-frame deletion | Rare | Potential loss of helicase activity |
Mutation functional classification
Loss of Function (LOF)
In-frame deletions in helicase domain may impair ATPase activity and RNA unwinding.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests possible gain-of-function via increased RNA processing.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Transport of Mature mRNA (Reactome: R-HSA-159230)
Protein Summary
DDX39A is a 427-amino acid DEAD-box RNA helicase that localizes to the nucleus and cytoplasm. It contains conserved helicase domains (DEXDc and HELICc) and an ATP-binding site. The protein unwinds RNA duplexes in an ATP-dependent manner, facilitating pre-mRNA splicing and mRNA export. Overexpression in multiple cancers suggests a role in oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX39A Knockout HEK293 Cell Line | EDJ-KQ6951 | Human | 10212 | Details Get a Quote |
| DDX39A Knockout A-549 Cell Line | EDJ-KQ31619 | Human | 10212 | Details Get a Quote |
| DDX39A Knockout HCT 116 Cell Line | EDJ-KQ31620 | Human | 10212 | Details Get a Quote |
| DDX39A Knockout HeLa Cell Line | EDJ-KQ31621 | Human | 10212 | Details Get a Quote |
