ZNFX1: Zinc Finger NFX1-Type Containing 1
A conserved RNA helicase involved in antiviral innate immunity and stress granule dynamics
Gene Information Card
| Symbol | ZNFX1 |
|---|---|
| Full Name | Zinc Finger NFX1-Type Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 57169 ncbi.nlm.nih.gov/gene/57169 |
| Ensembl ID | ENSG00000124198 |
| UniProt ID | Q9P2E3 |
| OMIM ID | 614826 |
| HGNC ID | 29283 |
| Aliases | NFX1, ZNFX1, FLJ11273, MGC138290 |
Description
ZNFX1 encodes a zinc finger NFX1-type containing protein that functions as an RNA helicase. It is involved in antiviral innate immunity by sensing viral RNA and promoting interferon responses. ZNFX1 also localizes to stress granules and modulates their dynamics. The protein contains a DEAD/DEAH box helicase domain and a zinc finger domain, and is conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 91 with hyperinflammation | Loss-of-function mutations impair antiviral interferon induction, leading to severe viral infections and hyperinflammatory responses | ClinVar, OMIM |
| Herpes simplex encephalitis susceptibility | ZNFX1 deficiency impairs type I interferon response to HSV-1 | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | Medium |
| Lung | 9.8 | Medium |
| Liver | 8.5 | Medium |
| Kidney | 7.2 | Low |
| Heart | 5.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | Medium expression |
| K562 | 9.1 | Medium expression |
| HepG2 | 7.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211C>T (p.Arg71*) | Nonsense | Rare | Loss of function; truncation of helicase domain |
| c.1018G>A (p.Gly340Arg) | Missense | Rare | Impaired RNA binding and helicase activity |
| c.1543C>T (p.Arg515Trp) | Missense | Rare | Reduced antiviral signaling |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; impair antiviral interferon induction.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA helicase activity | • ATP binding |
| • zinc ion binding | • double-stranded RNA binding |
| • innate immune response | • defense response to virus |
| • stress granule assembly | • cytoplasmic stress granule |
Pathways
• RIG-I-like receptor signaling pathway
• Cytosolic DNA-sensing pathway
• Innate Immune System
Protein Summary
ZNFX1 is a 1,220-amino acid protein containing an N-terminal DEAD/DEAH box helicase domain and a C-terminal zinc finger domain. It localizes to the cytoplasm and stress granules. The protein functions as an RNA helicase that senses viral RNA and activates interferon regulatory factors (IRFs) to induce type I interferons. ZNFX1 also interacts with other innate immune sensors and modulates stress granule dynamics. Loss-of-function mutations cause immunodeficiency with hyperinflammation and susceptibility to severe viral infections.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNFX1 Knockout HEK293 Cell Line | EDJ-KQ11913 | Human | 57169 | Details Get a Quote |
| ZNFX1 Knockout A-549 Cell Line | EDJ-KQ40389 | Human | 57169 | Details Get a Quote |
| ZNFX1 Knockout HCT 116 Cell Line | EDJ-KQ40390 | Human | 57169 | Details Get a Quote |
| ZNFX1 Knockout HeLa Cell Line | EDJ-KQ40391 | Human | 57169 | Details Get a Quote |
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