MAVS (Mitochondrial Antiviral Signaling Protein) Gene
A key adaptor in innate immune signaling, linking RIG-I-like receptor activation to antiviral responses.
Gene Information Card
| Symbol | MAVS |
|---|---|
| Full Name | Mitochondrial antiviral signaling protein |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 57506 ncbi.nlm.nih.gov/gene/57506 |
| Ensembl ID | ENSG00000188868 |
| UniProt ID | Q7Z434 |
| OMIM ID | 609676 |
| HGNC ID | 29233 |
| Aliases | IPS-1, VISA, CARDIF, KIAA1271 |
Description
The MAVS gene encodes a mitochondrial membrane adaptor protein that plays a critical role in innate immune signaling. Upon viral RNA detection by RIG-I-like receptors (RLRs), MAVS activates downstream transcription factors (IRF3/IRF7 and NF-κB) to induce type I interferons and pro-inflammatory cytokines. It is essential for antiviral defense against RNA viruses and is also implicated in DNA virus sensing and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatitis C virus infection | MAVS cleavage by HCV NS3/4A protease disrupts signaling, leading to immune evasion. | PMID: 16153868; 16153868 |
| Systemic lupus erythematosus (SLE) | Altered MAVS expression or signaling may contribute to aberrant interferon production. | PMID: 24871463 |
| Viral myocarditis | MAVS deficiency increases susceptibility to coxsackievirus B3 infection. | PMID: 20810913 |
| Neurodegenerative diseases (e.g., ALS) | MAVS aggregates in motor neurons, potentially affecting mitochondrial function and inflammation. | PMID: 30679343 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 14.2 | Medium |
| Spleen | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | High expression |
| A549 | 12.3 | Moderate |
| HepG2 | 10.1 | Moderate |
| K562 | 6.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167Gln) | Missense | Rare (0.01%) | Impaired interaction with RIG-I, reduced IFN induction |
| c.799C>T (p.Arg267Trp) | Missense | Rare | Loss of mitochondrial localization, defective signaling |
| c.1000A>G (p.Thr334Ala) | Missense | Not reported | Reduced NF-κB activation |
| c.1A>G (p.Met1Val) | Start codon loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt MAVS mitochondrial localization or RIG-I binding lead to impaired antiviral signaling, increasing susceptibility to viral infections.
Gain of Function (GOF)
No clear gain-of-function mutations reported; constitutive activation may occur in some autoimmune contexts but not well characterized.
Dominant Negative (DN)
Certain missense mutations (e.g., Arg167Gln) can exert dominant-negative effects by interfering with wild-type MAVS signaling.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signal transducer activity |
| • identical protein binding | • mitochondrion |
| • cytoplasm | • peroxisome |
| • innate immune response | • defense response to virus |
| • positive regulation of type I interferon production | • apoptotic process |
Pathways
• RIG-I-like receptor signaling pathway
• Cytosolic DNA-sensing pathway
• Innate Immune System
• Toll-like receptor signaling (crosstalk)
Protein Summary
MAVS is a 540-amino acid protein with an N-terminal CARD domain, a proline-rich region, and a C-terminal transmembrane domain that anchors it to the mitochondrial outer membrane. It forms prion-like aggregates upon activation, which are essential for signal amplification. Post-translational modifications (phosphorylation, ubiquitination) regulate its activity. MAVS also localizes to peroxisomes and mitochondria-associated membranes, contributing to distinct antiviral responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAVS Knockout HEK293 Cell Line | EDJ-KQ3570 | Human | 57506 | Details Get a Quote |
| MAVS Knockout A-549 Cell Line | EDJ-KQ25442 | Human | 57506 | Details Get a Quote |
| MAVS Knockout HCT 116 Cell Line | EDJ-KQ25443 | Human | 57506 | Details Get a Quote |
| MAVS Knockout HeLa Cell Line | EDJ-KQ25444 | Human | 57506 | Details Get a Quote |
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