DHX57: DEAH-Box Helicase 57
A DExH-box RNA helicase implicated in innate immunity and cellular RNA metabolism
Gene Information Card
| Symbol | DHX57 |
|---|---|
| Full Name | DEAH-box helicase 57 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p22.1 |
| NCBI Gene ID | 79176 ncbi.nlm.nih.gov/gene/79176 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q6P158 |
| OMIM ID | 616845 |
| HGNC ID | 29529 |
| Aliases | DDX57, MGC13170, FLJ20291 |
Description
DHX57 encodes a member of the DEAH-box family of RNA helicases. The protein is involved in RNA metabolism, including pre-mRNA splicing and ribosome biogenesis. It also functions as a cytosolic sensor of viral double-stranded RNA, contributing to the innate immune response by activating interferon signaling pathways. DHX57 is broadly expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Viral infections (e.g., Influenza A) | DHX57 recognizes viral dsRNA and activates RIG-I-like receptor signaling, leading to type I interferon production. | Experimental evidence from cell-based assays (PMID: 21911473) |
| Autoimmune disorders (potential) | Dysregulation of DHX57-mediated interferon induction may contribute to autoimmune pathology. | Inferred from functional studies; no direct clinical association yet. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.7 | Embryonic kidney cells; moderate expression |
| HeLa | 7.4 | Cervical carcinoma; moderate expression |
| K562 | 5.1 | Leukemia; low expression |
| HepG2 | 4.3 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact; predicted benign by SIFT |
| c.2567A>G (p.Asn856Ser) | Missense | 0.005% (gnomAD) | Unknown functional impact; predicted tolerated |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RIG-I-like receptor signaling pathway (Reactome: R-HSA-168928)
• Spliceosome (KEGG: hsa03040)
• Innate Immune System (Reactome: R-HSA-168249)
Protein Summary
DHX57 is a 1,307-amino acid DEAH-box RNA helicase that localizes to both the nucleus and cytoplasm. It contains conserved helicase domains (DExHc and HELICc) and an N-terminal DUF (domain of unknown function). The protein unwinds RNA duplexes in an ATP-dependent manner and participates in pre-mRNA splicing as part of the spliceosome. In the cytoplasm, DHX57 acts as a pattern recognition receptor for viral double-stranded RNA, triggering IRF3/NF-κB activation and interferon production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DHX57 Knockout HEK293 Cell Line | EDJ-KQ10680 | Human | 90957 | Details Get a Quote |
| DHX57 Knockout A-549 Cell Line | EDJ-KQ38211 | Human | 90957 | Details Get a Quote |
| DHX57 Knockout HCT 116 Cell Line | EDJ-KQ38212 | Human | 90957 | Details Get a Quote |
| DHX57 Knockout HeLa Cell Line | EDJ-KQ38213 | Human | 90957 | Details Get a Quote |
