USP30 Gene - Ubiquitin Specific Peptidase 30
Mitochondrial deubiquitinase involved in mitophagy and Parkinson's disease
Gene Information Card
| Symbol | USP30 |
|---|---|
| Full Name | Ubiquitin specific peptidase 30 |
| Gene Type | protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 84749 ncbi.nlm.nih.gov/gene/84749 |
| Ensembl ID | ENSG00000135094 |
| UniProt ID | Q70CQ3 |
| OMIM ID | 618073 |
| HGNC ID | 20085 |
| Aliases | FLJ12806, dJ337O18.4 |
Description
USP30 encodes a deubiquitinating enzyme localized to the outer mitochondrial membrane. It removes ubiquitin from mitochondrial proteins, counteracting Parkin-mediated mitophagy. USP30 is implicated in mitochondrial quality control, apoptosis, and Parkinson's disease. Its inhibition is a therapeutic target for Parkinson's and other mitochondrial disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | USP30 negatively regulates mitophagy; increased activity may impair clearance of damaged mitochondria, contributing to dopaminergic neuron loss. | Genetic association studies; functional assays in cell models (PMID: 25456121, 28934303) |
| Mitochondrial dysfunction | Overexpression of USP30 reduces mitophagy, leading to accumulation of dysfunctional mitochondria; knockdown enhances mitophagy. | Cell-based studies (PMID: 25456121) |
| Cancer | USP30 expression may influence apoptosis and mitochondrial dynamics in tumor cells; potential role in chemoresistance. | Expression profiling in cancer cell lines (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.1 | Low |
| Liver | 2.4 | Low |
| Kidney | 4.0 | Low |
| Testis | 6.8 | Medium |
| Skeletal Muscle | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.5 | Cervical cancer cell line |
| HepG2 | 6.2 | Liver cancer cell line |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
| MCF7 | 5.9 | Breast cancer cell line |
| A549 | 4.8 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon, reduced protein expression |
| c.215C>T (p.Thr72Met) | Missense | Rare | Unknown functional effect |
| c.340G>A (p.Gly114Ser) | Missense | Rare | Unknown functional effect |
| c.512A>G (p.Tyr171Cys) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations may impair deubiquitinase activity, leading to enhanced mitophagy and potential neuroprotection, but also could disrupt mitochondrial dynamics.
Gain of Function (GOF)
Gain-of-function mutations may increase USP30 activity, reducing mitophagy and contributing to mitochondrial dysfunction and Parkinson's disease.
Dominant Negative (DN)
Dominant-negative mutations could interfere with dimerization or substrate binding, reducing overall deubiquitinase activity.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • mitochondrial outer membrane | • protein deubiquitination |
| • negative regulation of mitophagy | • mitochondrial fusion |
Pathways
• Mitophagy (Parkin-mediated)
• Ubiquitin-proteasome system
• Mitochondrial quality control
Protein Summary
USP30 is a 517-amino acid protein with a catalytic domain characteristic of ubiquitin-specific proteases. It is anchored to the mitochondrial outer membrane via a transmembrane domain. USP30 specifically cleaves ubiquitin from mitochondrial proteins, including those tagged by Parkin, thereby opposing mitophagy. It also regulates mitochondrial fusion and apoptosis. Its expression is ubiquitous but low, with highest levels in testis and brain. USP30 is a promising drug target for Parkinson's disease and other mitochondrial disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP30 Knockout HEK293 Cell Line | EDJ-KQ10187 | Human | 84749 | Details Get a Quote |
| USP30 Knockout A-549 Cell Line | EDJ-KQ37317 | Human | 84749 | Details Get a Quote |
| USP30 Knockout HCT 116 Cell Line | EDJ-KQ37318 | Human | 84749 | Details Get a Quote |
| USP30 Knockout HeLa Cell Line | EDJ-KQ37319 | Human | 84749 | Details Get a Quote |
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