Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about USP30: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
Gene profile: USP30 — Ubiquitin Specific Peptidase 30, a mitochondria-localized deubiquitinase critical for mitophagy regulation and a promising therapeutic target in Parkinson's disease
| Gene Symbol | USP30 |
| Full Name | Ubiquitin Specific Peptidase 30 |
| Chromosome | 12p11.23 |
| Protein Type | Enzyme |
| Function | is a critical deubiquitinating enzyme (DUB) uniquely localized to the outer mitochondrial membrane (OMM), where it serves as a key regulator of mitochondrial quality control through mitophagy [@bin... |
| Subcellular Localization | the outer mitochondrial membrane (OMM), where it serves as a key regulator of mitochondrial quality control through mito |
| Molecular Weight | 58 kDa |
| Amino Acids | 517 aa |
| Pathways | Autophagy, Mitophagy |
| Ensembl ID | ENSG00000196811 |
| GeneCards | USP30 |
| Human Protein Atlas | USP30 |
| N-terminus | Cytoplasmic (facing the cytosol) |
| C-terminus | Intermembrane space-facing |
| Substrate specificity | Prefers K6- and K63-linked ubiquitin chains |
| Associated Diseases | Als, Cardiac, Ms |
| Interactions | FOXO3, HSPD1, COX4I1, GRIA2, PRKN, OPTN |
| KG Connections | 148 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
flowchart TD
USP30["USP30"] -->|"activates"| Aging["Aging"]
USP30["USP30"] -->|"activates"| Cardiovascular["Cardiovascular"]
USP30["USP30"] -->|"therapeutic target"| Parkinson["Parkinson"]
USP30["USP30"] -->|"therapeutic target"| Amyotrophic_Lateral_Scler["Amyotrophic Lateral Sclerosis"]
USP30["USP30"] -->|"therapeutic target"| Alzheimer["Alzheimer"]
USP30["USP30"] -->|"activates"| Als["Als"]
USP30["USP30"] -->|"therapeutic target"| Huntington["Huntington"]
USP30["USP30"] -->|"therapeutic target"| Ms["Ms"]
USP30["USP30"] -->|"regulates"| Parkinson["Parkinson"]
USP30["USP30"] -->|"regulates"| Alzheimer["Alzheimer"]
USP30["USP30"] -->|"therapeutic target"| Als["Als"]
USP30["USP30"] -->|"associated with"| Ms["Ms"]
style USP30 fill:#4a1a6b,stroke:#333,color:#e0e0e0
style Aging fill:#ef5350,stroke:#333,color:#e0e0e0
style Cardiovascular fill:#ef5350,stroke:#333,color:#e0e0e0
style Parkinson fill:#ef5350,stroke:#333,color:#e0e0e0
style Amyotrophic_Lateral_Scler fill:#ef5350,stroke:#333,color:#e0e0e0
style Alzheimer fill:#ef5350,stroke:#333,color:#e0e0e0
style Als fill:#ef5350,stroke:#333,color:#e0e0e0
style Huntington fill:#ef5350,stroke:#333,color:#e0e0e0
style Ms fill:#ef5350,stroke:#333,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| dopaminergic neurons | protects_against | cell_type | 1.00 |
| phospho-S129 αSyn | decreases | protein | 0.90 |
| Parkinson | regulates | disease | 0.75 |
| Parkinson | inhibits | disease | 0.75 |
| Mitophagy | activates | pathway | 0.70 |
| autophagy pathway | participates_in | pathway | 0.70 |
| Aging | activates | disease | 0.65 |
| Cardiovascular | activates | disease | 0.65 |
| Parkinson | therapeutic_target | disease | 0.65 |
| Amyotrophic Lateral Sclerosis | therapeutic_target | disease | 0.65 |
| Alzheimer | therapeutic_target | disease | 0.65 |
| Als | activates | disease | 0.65 |
| Huntington | therapeutic_target | disease | 0.65 |
| Ms | therapeutic_target | disease | 0.65 |
| Alzheimer | regulates | disease | 0.65 |
| Als | therapeutic_target | disease | 0.65 |
| Ms | associated_with | disease | 0.65 |
| Als | inhibits | disease | 0.65 |
| Synucleinopathy | inhibits | disease | 0.65 |
| Neurodegeneration | inhibits | disease | 0.65 |
| Als | regulates | disease | 0.65 |
| Heart Failure | therapeutic_target | disease | 0.65 |
| Als | implicated_in | disease | 0.65 |
| Cardiac | implicated_in | disease | 0.65 |
| Parkinson | activates | disease | 0.65 |
| Amyotrophic Lateral Sclerosis | activates | disease | 0.65 |
| ALS | activates | disease | 0.65 |
| Alzheimer | activates | disease | 0.65 |
| Huntington | activates | disease | 0.65 |
| FOXO3 | activates | gene | 0.60 |
| HSPD1 | activates | gene | 0.60 |
| COX4I1 | activates | gene | 0.60 |
| GRIA2 | activates | gene | 0.60 |
| PRKN | activates | gene | 0.60 |
| OPTN | activates | gene | 0.60 |
| MAP1LC3B | activates | gene | 0.60 |
| MYO7A | activates | gene | 0.60 |
| ATF3 | activates | gene | 0.60 |
| PINK1 | activates | gene | 0.60 |
| TOMM20 | activates | gene | 0.60 |
| PARKIN | activates | gene | 0.60 |
| XBP1 | activates | gene | 0.60 |
| PINK1 | associated_with | gene | 0.60 |
| MUL1 | regulates | gene | 0.60 |
| UBIQUITIN | activates | gene | 0.60 |
| PARKIN | inhibits | gene | 0.60 |
| UBIQUITIN | regulates | gene | 0.60 |
| PARKIN | regulates | gene | 0.60 |
| PARKIN | implicated_in | gene | 0.60 |
| HSP60 | activates | gene | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| PARKIN | activates | gene | 0.70 |
| PINK1 | activates | gene | 0.70 |
| MITOPHAGY | activates | gene | 0.70 |
| PARKINSON'S DISEASE | regulates | gene | 0.70 |
| PARKINSON'S DISEASE | inhibits | gene | 0.70 |
| PARKINSON | inhibits | gene | 0.70 |
| MYO7A | activates | gene | 0.60 |
| MAP1LC3B | activates | gene | 0.60 |
| OPTN | activates | gene | 0.60 |
| XBP1 | activates | gene | 0.60 |
| ATF3 | activates | gene | 0.60 |
| TOMM20 | activates | gene | 0.60 |
| PTEN | activates | gene | 0.60 |
| PARKIN | regulates | gene | 0.60 |
| UBIQUITIN | regulates | gene | 0.60 |
| UBIQUITIN | activates | gene | 0.60 |
| PRKN | activates | gene | 0.60 |
| HSPD1 | activates | gene | 0.60 |
| FOXO3 | activates | gene | 0.60 |
| HSP60 | activates | gene | 0.60 |
| OPTINEURIN | activates | gene | 0.60 |
| GRIA2 | activates | gene | 0.60 |
| COX4I1 | activates | gene | 0.60 |
| PINK1 | causes | gene | 0.60 |
| PARK2 | inhibits | gene | 0.60 |
| UBIQUITIN | inhibits | gene | 0.60 |
| SNCA | inhibits | gene | 0.60 |
| PINK1 | regulates | gene | 0.60 |
| PINK1 | implicated_in | gene | 0.60 |
| PARL | implicated_in | gene | 0.60 |
| CPT2 | implicated_in | gene | 0.60 |
| FUS | activates | gene | 0.60 |
| CDK5 | regulates | gene | 0.60 |
| MAVS | regulates | gene | 0.60 |
| FBXO7 | regulates | gene | 0.60 |
| GENES | therapeutic_target | gene | 0.60 |
| NEURODEGENERATIVE DISEASES | therapeutic_target | gene | 0.60 |
| ALZHEIMER DISEASE | therapeutic_target | gene | 0.60 |
| MITOCHONDRIAL DYSFUNCTION | therapeutic_target | gene | 0.60 |
| AMYOTROPHIC LATERAL SCLEROSIS | therapeutic_target | gene | 0.60 |
| ALZHEIMER'S DISEASE | regulates | gene | 0.60 |
| MITOPHAGY | therapeutic_target | gene | 0.60 |
| NEURODEGENERATIVE DISORDERS | regulates | gene | 0.60 |
| LC3B | activates | gene | 0.60 |
| MITOCHONDRIA | activates | gene | 0.60 |
| AUTOPHAGY | activates | gene | 0.60 |
| MITOPHAGY | inhibits | gene | 0.60 |
| GENES | inhibits | gene | 0.60 |
| NEURODEGENERATION | inhibits | gene | 0.60 |
| AUTOPHAGY | regulates | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||