RIGI: Retinoic Acid-Inducible Gene I – Key Innate Immune Sensor
RIGI (DDX58) encodes a cytosolic RNA helicase that detects viral RNA and triggers antiviral interferon responses.
Gene Information Card
| Symbol | RIGI |
|---|---|
| Full Name | Retinoic Acid-Inducible Gene I (also known as DDX58) |
| Gene Type | Protein coding |
| Chromosomal Location | 9p21.1 |
| NCBI Gene ID | 23586 ncbi.nlm.nih.gov/gene/23586 |
| Ensembl ID | ENSG00000107201 |
| UniProt ID | O95786 |
| OMIM ID | 609631 |
| HGNC ID | 19102 |
| Aliases | DDX58, RIG-I, RIG-1, FLJ13599 |
Description
RIGI (DDX58) encodes retinoic acid-inducible gene I (RIG-I), a cytosolic DExD/H-box RNA helicase that functions as a pattern recognition receptor. RIG-I detects 5'-triphosphate double-stranded RNA from viruses, initiating a signaling cascade via MAVS that leads to type I interferon and proinflammatory cytokine production. This gene is essential for antiviral innate immunity and is implicated in autoimmune and inflammatory disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aicardi-Goutières syndrome | Gain-of-function mutations in RIGI cause constitutive interferon signaling, mimicking viral infection | ClinVar, OMIM #609631 |
| Singleton-Merten syndrome | Heterozygous missense mutations (e.g., p.Cys268Phe) enhance RIG-I activity, leading to aortic calcification and skeletal abnormalities | OMIM #616298, ClinVar |
| Systemic lupus erythematosus (SLE) | RIGI polymorphisms and altered expression linked to interferonopathy and autoantibody production | NCBI Gene, literature |
| Viral susceptibility (e.g., influenza, RSV) | Loss-of-function variants impair viral RNA sensing, increasing risk of severe respiratory infections | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Liver | 8.2 | Low |
| Whole blood | 6.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical carcinoma; high baseline expression |
| A549 | 18.2 | Lung carcinoma; inducible by interferon |
| THP-1 | 22.1 | Monocytic leukemia; strong response to viral mimics |
| HEK293 | 9.7 | Embryonic kidney; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Cys268Phe | Missense | Rare | Gain-of-function; constitutive activation of interferon pathway |
| p.Glu373Ala | Missense | Rare | Loss-of-function; impaired RNA binding and signaling |
| p.Arg7Cys | Missense | Rare | Dominant-negative; reduces antiviral response |
| p.Thr55Ile | Missense | Rare | Gain-of-function; associated with Singleton-Merten syndrome |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Glu373Ala impair ATPase or RNA-binding activity, reducing interferon induction and increasing viral susceptibility.
Gain of Function (GOF)
Mutations like p.Cys268Phe cause constitutive RIG-I activation, leading to chronic interferon signaling and autoinflammatory disease.
Dominant Negative (DN)
Mutations such as p.Arg7Cys interfere with wild-type RIG-I function, dampening antiviral responses.
View complete mutation data：
Gene Ontology (GO)
| • double-stranded RNA binding (GO:0003725) | • single-stranded RNA binding (GO:0003727) |
| • helicase activity (GO:0004386) | • ATP binding (GO:0005524) |
| • cytoplasmic pattern recognition receptor signaling pathway (GO:0039528) | • innate immune response (GO:0045087) |
| • type I interferon signaling pathway (GO:0060337) |
Pathways
• RIG-I-like receptor signaling pathway (KEGG hsa04622)
• Cytosolic DNA-sensing pathway (KEGG hsa04623)
• Innate Immune System (Reactome R-HSA-168249)
• Interferon Signaling (Reactome R-HSA-913531)
Protein Summary
RIG-I (UniProt O95786) is a 925-amino acid cytosolic protein containing an N-terminal tandem CARD domain, a central DExD/H-box helicase domain, and a C-terminal regulatory domain. Upon binding 5'-triphosphate RNA, it undergoes conformational changes, exposing CARDs to interact with MAVS on mitochondria, activating IRF3 and NF-κB. This triggers type I interferon production. RIG-I is ubiquitously expressed but highest in immune tissues. Post-translational modifications include ubiquitination (K63-linked) and phosphorylation, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIGI Knockout HEK293 Cell Line | EDJ-KQ15073 | Human | 23586 | Details Get a Quote |
| RIGI Knockout A-549 Cell Line | EDJ-KQ45635 | Human | 23586 | Details Get a Quote |
| RIGI Knockout HCT 116 Cell Line | EDJ-KQ45636 | Human | 23586 | Details Get a Quote |
| RIGI Knockout HeLa Cell Line | EDJ-KQ45637 | Human | 23586 | Details Get a Quote |
| RIGI Knockout Jurkat Cell Line | EDJ-KQ78082 | Human | 19102 | Details Get a Quote |
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