DDX19A
DEAD-box helicase 19A
Gene Information Card
| Symbol | DDX19A |
|---|---|
| Full Name | DEAD-box helicase 19A |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 55308 ncbi.nlm.nih.gov/gene/55308 |
| Ensembl ID | ENSG00000168872 |
| UniProt ID | Q9NUU7 |
| OMIM ID | 605812 |
| HGNC ID | 17380 |
| Aliases | DBP5, DDX19, DDX19L |
Description
DDX19A encodes a member of the DEAD-box family of RNA helicases. The protein is involved in nuclear export of mRNA, unwinding RNA duplexes, and remodeling ribonucleoprotein complexes. It localizes to the nuclear pore complex and facilitates the translocation of mRNA from the nucleus to the cytoplasm.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered DDX19A expression may affect mRNA export and cell proliferation | COSMIC; limited evidence |
| Hepatocellular carcinoma | Upregulation of DDX19A associated with poor prognosis | PubMed; expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 6.2 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 11.0 | Moderate expression |
| HepG2 | 8.5 | Moderate expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1010A>G (p.Asn337Ser) | missense | <0.01% | Unknown functional impact |
| c.1243C>T (p.Arg415Trp) | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in DDX19A.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity | • ATP binding |
| • mRNA export from nucleus | • nuclear pore complex |
| • cytoplasmic translation |
Pathways
• mRNA surveillance pathway
• RNA transport
• Nuclear export of mRNA
Protein Summary
DDX19A is a 479-amino acid DEAD-box RNA helicase that localizes to the nuclear pore complex. It uses ATP hydrolysis to unwind RNA and remodel mRNP complexes, playing a critical role in the final steps of mRNA nuclear export. The protein contains conserved helicase motifs and is ubiquitously expressed, with highest levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX19A Knockout HEK293 Cell Line | EDJ-KQ51444 | Human | 55308 | Details Get a Quote |
| DDX19A Knockout HeLa Cell Line | EDJ-KQ56576 | Human | 55308 | Details Get a Quote |
| DDX19A Knockout A-549 Cell Line | EDJ-KQ65073 | Human | 55308 | Details Get a Quote |
| DDX19A Knockout HCT 116 Cell Line | EDJ-KQ73517 | Human | 55308 | Details Get a Quote |
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