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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SUPV3L1
Suv3 like RNA helicase
Chromosome 10 · 10q22.1
NCBI Gene: 6832Ensembl: ENSG00000156502.15HGNC: HGNC:11471UniProt: B7Z611
76PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
3'-5'-RNA exonuclease activityDNA bindingDNA helicase activityRNA bindingneurodegenerative diseaseresponse to vaccineneoplasmhepatocellular carcinoma
✦AI Summary

SUPV3L1 encodes a conserved ATP-dependent RNA helicase that serves as a critical component of mitochondrial RNA metabolism and quality control. The protein functions as the helicase subunit of the mitochondrial degradosome complex, partnering with polynucleotide phosphorylase (PNPase) to degrade double-stranded RNA with 3'-to-5' directionality 1. This degradosome activity is essential for preventing accumulation of mitochondrial double-stranded RNA, which would otherwise escape into the cytoplasm and trigger inappropriate antiviral signaling through the MDA5 pathway 1. SUPV3L1 also rapidly degrades mitochondria-encoded circular RNAs (mecciRNAs) in complex with ELAC2, regulating mitochondrial permeability transition pore function and reactive oxygen species release 2. The protein localizes to discrete mitochondrial translation hubs and helps organize mitochondrial gene expression spatially, with stress conditions triggering formation of RNA-protein bodies that sequester mitochondrial transcripts 3. Loss of SUPV3L1 function results in severe phenotypes including growth retardation, sarcopenia, skin abnormalities, and premature death in mouse models 4. Mutations in SUPV3L1 have been identified as candidate causes of intellectual disability in human patients 5, highlighting its importance for normal cellular function and development.

Sources cited
1
SUPV3L1 is a component of the mitochondrial degradosome that degrades double-stranded RNA and prevents cytoplasmic escape that would trigger antiviral signaling
PMID: 30046113
2
SUPV3L1 rapidly degrades mecciRNAs in complex with ELAC2, regulating mitochondrial permeability transition pore and ROS release
PMID: 39973625
3
SUPV3L1 localizes to mitochondrial translation hubs and its loss triggers stress body formation with RNA sequestration
PMID: 40249810
4
Loss of SUPV3L1 causes growth retardation, sarcopenia, skin abnormalities, and premature death in mice
PMID: 19145458
5
SUPV3L1 mutations are candidate causes of intellectual disability in humans
PMID: 36344539
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
response to vaccineOpen Targets
0.31Weak
neoplasmOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
AtaxiaOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
sarcopeniaOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
heart failureOpen Targets
0.01Suggestive
leukodystrophyOpen Targets
0.01Suggestive
optic atrophyOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
mitochondrial diseaseOpen Targets
0.00Suggestive
epilepsyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DIS3L2Protein interaction97%SEM1Protein interaction95%EXOSC9Protein interaction91%ELAC2Protein interaction86%DIS3Protein interaction83%GRSF1Protein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
66%
Liver
48%
Ovary
44%
Brain
43%
Lung
30%
Gene Interaction Network
Click a node to explore
SUPV3L1DIS3L2SEM1EXOSC9ELAC2DIS3GRSF1
PROTEIN STRUCTURE
Preparing viewer…
PDB3RC3 · 2.08 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.06Tolerant
Observed/Expected LoF0.43 [0.32–0.59]
RankingsWhere SUPV3L1 stands among ~20K protein-coding genes
  • #6,291of 20,598
    Most Researched76
  • #3,964of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedSUPV3L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
PMID: 30046113
Nature · 2018
1.00
2
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
PMID: 36344539
Sci Rep · 2022
0.90
3
Proteomics and metabolomics profiling reveal panels of circulating diagnostic biomarkers and molecular subtypes in stable COPD.
PMID: 36899372
Respir Res · 2023
0.80
4
Fast Degradation of MecciRNAs by SUPV3L1/ELAC2 Provides a Novel Opportunity to Tackle Heart Failure With Exogenous MecciRNA.
PMID: 39973625
Circulation · 2025
0.70
5
Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death.
PMID: 19145458
Mamm Genome · 2009
0.60