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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP30
ubiquitin specific peptidase 30
Chromosome 12 · 12q24.11
NCBI Gene: 84749Ensembl: ENSG00000135093.13HGNC: HGNC:20065UniProt: B3KUS5
65PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cysteine-type endopeptidase activitycysteine-type deubiquitinase activityprotein bindingprotein deubiquitinationneurodegenerative diseasecentral nervous system infectionschizophreniabreast cancer
✦AI Summary

USP30 is a mitochondrial outer membrane-tethered deubiquitinase that serves as a key negative regulator of mitophagy by antagonizing parkin-mediated mitochondrial quality control 1. The enzyme preferentially cleaves Lys-6 and Lys-11-linked polyubiquitin chains, counteracting parkin's ubiquitination of mitochondrial substrates such as RHOT1/MIRO1 and TOMM20, thereby blocking mitophagy initiation 1. USP30's inhibitory role extends beyond mitochondria to peroxisomal quality control, where it regulates pexophagy through modulation of ubiquitinated PEX5 2. The protein also functions in metabolic regulation, as IKKβ-mediated phosphorylation stabilizes USP30, which then deubiquitinates ATP citrate lyase (ACLY) and fatty acid synthase, promoting lipogenesis and contributing to hepatocellular carcinoma development 3. Therapeutically, USP30 represents a promising target for neurodegenerative diseases, particularly Parkinson's disease, where its inhibition can rescue defective mitophagy in parkin-deficient neurons and reduce oxidative stress 4. USP30 inhibition also shows potential in treating metabolic cardiomyopathies by restoring mitophagy in fatty acid oxidation-deficient hearts 5 and enhancing cancer immunotherapy by preventing T cell exhaustion through improved mitochondrial quality control 6.

Sources cited
1
USP30 is a mitochondrial deubiquitinase that antagonizes parkin-mediated mitophagy and blocks mitochondrial degradation
PMID: 24896179
2
USP30 regulates pexophagy through modulation of ubiquitinated PEX5
PMID: 36541703
3
IKKβ stabilizes USP30, which deubiquitinates ACLY and FASN, promoting lipogenesis and HCC development
PMID: 32221968
4
USP30 inhibition rescues mitophagy defects in parkin-deficient neurons and reduces oxidative stress
PMID: 38225227
5
USP30 deletion restores mitophagy and improves cardiac function in fatty acid oxidation-deficient hearts
PMID: 40593619
6
USP30 inhibition prevents T cell exhaustion by restoring mitophagy and improving mitochondrial fitness
PMID: 40815646
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.38Weak
central nervous system infectionOpen Targets
0.32Weak
schizophreniaOpen Targets
0.32Weak
breast cancerOpen Targets
0.10Weak
acute myeloid leukemiaOpen Targets
0.08Suggestive
cervical cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
infectionOpen Targets
0.07Suggestive
oral squamous cell carcinomaOpen Targets
0.06Suggestive
deafnessOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
Parkinson diseaseOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
ovarian cancerOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.05Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.05Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.05Suggestive
ThrombocytopeniaOpen Targets
0.04Suggestive
autosomal dominant macrothrombocytopeniaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBCProtein interaction100%RPS27AProtein interaction99%UBA52Protein interaction97%PINK1Protein interaction93%TOMM20Protein interaction92%FIS1Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
77%
Liver
73%
Heart
61%
Ovary
56%
Lung
31%
Gene Interaction Network
Click a node to explore
USP30UBCRPS27AUBA52PINK1TOMM20FIS1
PROTEIN STRUCTURE
Preparing viewer…
PDB9F6G · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.43–0.76]
RankingsWhere USP30 stands among ~20K protein-coding genes
  • #7,218of 20,598
    Most Researched65
  • #6,041of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedUSP30
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting mitophagy in neurodegenerative diseases.
PMID: 39809929
Nat Rev Drug Discov · 2025
1.00
2
The IKKβ-USP30-ACLY Axis Controls Lipogenesis and Tumorigenesis.
PMID: 32221968
Hepatology · 2021
0.90
3
The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy.
PMID: 24896179
Nature · 2014
0.80
4
USP30 inhibition induces mitophagy and reduces oxidative stress in parkin-deficient human neurons.
PMID: 38225227
Cell Death Dis · 2024
0.70
5
Mitophagy mitigates mitochondrial fatty acid β-oxidation deficient cardiomyopathy.
PMID: 40593619
Nat Commun · 2025
0.60