DDX60: DEAD-Box Helicase 60
A DExD/H-box RNA helicase involved in antiviral innate immunity and RNA metabolism
Gene Information Card
| Symbol | DDX60 |
|---|---|
| Full Name | DEAD-box helicase 60 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 55601 ncbi.nlm.nih.gov/gene/55601 |
| Ensembl ID | ENSG00000164209 |
| UniProt ID | Q5T1M5 |
| OMIM ID | 615981 |
| HGNC ID | 29270 |
| Aliases | FLJ20035, DKFZp434B0331 |
Description
DDX60 encodes a DExD/H-box RNA helicase that functions in antiviral innate immunity. It is involved in the RIG-I-like receptor signaling pathway, promoting interferon induction in response to viral RNA. DDX60 also participates in RNA metabolism and may have roles in cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Viral infections (e.g., influenza, hepatitis C) | DDX60 enhances RIG-I-mediated detection of viral RNA, promoting interferon production | PMID: 21876179 |
| Hepatocellular carcinoma | Altered DDX60 expression may affect tumor immune surveillance | PMID: 31570863 |
| Systemic lupus erythematosus (SLE) | DDX60 polymorphisms associated with SLE susceptibility in GWAS | PMID: 25673126 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Liver | 6.1 | Low |
| Whole blood | 4.2 | Low |
| Brain | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HepG2 | 9.7 | Medium expression |
| A549 | 7.4 | Medium expression |
| K562 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; predicted to cause nonsense-mediated decay |
| c.2567A>G (p.Asn856Ser) | Missense | 0.02% | Unknown effect; rare population variant |
| c.3456_3457insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, c.3456_3457insA) are predicted to cause loss of helicase activity and impaired antiviral signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DDX60.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity (GO:0003724) | • ATP binding (GO:0005524) |
| • Innate immune response (GO:0045087) | • RIG-I signaling pathway (GO:0039528) |
| • Cytoplasm (GO:0005737) |
Pathways
• RIG-I-like receptor signaling pathway (Reactome: R-HSA-168928)
• Antiviral mechanism by IFN-stimulated genes (Reactome: R-HSA-1169410)
Protein Summary
DDX60 is a 1,712-amino-acid DExD/H-box RNA helicase localized in the cytoplasm. It contains conserved helicase domains (DExDc and HELICc) and a C-terminal domain. The protein binds viral RNA and enhances RIG-I-mediated interferon induction. DDX60 is widely expressed in immune tissues and is upregulated upon viral infection.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DDX60L Knockout HEK293 Cell Line | EDJ-KQ2065 | Human | 91351 | Details Get a Quote |
| DDX60 Knockout HEK293 Cell Line | EDJ-KQ12347 | Human | 55601 | Details Get a Quote |
| DDX60L Knockout A-549 Cell Line | EDJ-KQ22133 | Human | 91351 | Details Get a Quote |
| DDX60L Knockout HeLa Cell Line | EDJ-KQ22134 | Human | 91351 | Details Get a Quote |
| DDX60L Knockout HCT 116 Cell Line | EDJ-KQ20840 | Human | 91351 | Details Get a Quote |
| DDX60 Knockout A-549 Cell Line | EDJ-KQ42432 | Human | 55601 | Details Get a Quote |
| DDX60 Knockout HCT 116 Cell Line | EDJ-KQ42434 | Human | 55601 | Details Get a Quote |
| DDX60 Knockout HeLa Cell Line | EDJ-KQ42435 | Human | 55601 | Details Get a Quote |
