DDX60L
DExD/H-box helicase 60-like, a putative RNA helicase involved in antiviral innate immunity
Gene Information Card
| Symbol | DDX60L |
|---|---|
| Full Name | DExD/H-box helicase 60 like |
| Gene Type | Protein coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 91351 ncbi.nlm.nih.gov/gene/91351 |
| Ensembl ID | ENSG00000164292 |
| UniProt ID | Q5T8P6 |
| OMIM ID | 615993 |
| HGNC ID | 26410 |
| Aliases | FLJ30046, MGC16384 |
Description
DDX60L (DExD/H-box helicase 60 like) is a protein-coding gene that encodes a putative RNA helicase belonging to the DExD/H-box family. It is an interferon-stimulated gene (ISG) implicated in antiviral innate immunity, particularly in sensing and responding to viral RNA. DDX60L may function as a pattern recognition receptor or co-factor in RIG-I-like receptor signaling pathways. The gene is located on chromosome 4q32.3 and is expressed in various tissues, with highest levels in lymphoid organs and immune cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatitis C virus infection | DDX60L may enhance RIG-I-mediated interferon induction in response to HCV RNA | Inferred from functional studies (PMID: 21957124) |
| Influenza A virus infection | Potential role in antiviral response through RNA helicase activity | Inferred from expression and interaction data (PMID: 21957124) |
| Systemic lupus erythematosus | DDX60L expression is upregulated in SLE patients; possible involvement in type I interferon pathway | Association study (PMID: 25658027) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 11.8 | Medium |
| Whole blood | 9.2 | Medium |
| Lung | 6.4 | Low |
| Liver | 4.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 8.7 | Myelogenous leukemia line |
| HEK 293 | 6.3 | Embryonic kidney line |
| HeLa | 5.1 | Cervical carcinoma line |
| HepG2 | 4.8 | Hepatocellular carcinoma line |
| A549 | 3.9 | Lung carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.001% (gnomAD) | Unknown; predicted possibly damaging by PolyPhen-2 |
| c.567delA (p.Glu190Lysfs*2) | Frameshift deletion | 0.0005% (gnomAD) | Likely loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift deletion (c.567delA) leads to premature stop codon, likely abolishing helicase activity.
Gain of Function (GOF)
No gain-of-function mutations reported in DDX60L.
Dominant Negative (DN)
No dominant-negative mutations described for DDX60L.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RIG-I-like receptor signaling pathway (Reactome: R-HSA-168928)
• Interferon alpha/beta signaling (Reactome: R-HSA-909733)
Protein Summary
DDX60L encodes a 1,023-amino-acid protein with a conserved DExD/H-box helicase domain. The protein localizes to the cytoplasm and is induced by type I interferons. It is thought to bind viral double-stranded RNA and enhance RIG-I-dependent interferon production. Structural studies suggest it may function as an RNA helicase, unwinding RNA duplexes to facilitate viral RNA recognition. DDX60L is widely expressed in immune tissues and is upregulated in response to 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 |
| 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 |
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