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Gene Gene information from NCBI Gene database.
Entrez ID 84749
Gene name Ubiquitin specific peptidase 30
Gene symbol USP30
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q24.11
Summary USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]
miRNA miRNA information provided by mirtarbase database.
253 Show/Hide all (253)
miRTarBase ID miRNA Experiments Reference
MIRT042215 hsa-miR-484 CLASH 23622248
MIRT037261 hsa-miR-877-5p CLASH 23622248
MIRT756119 hsa-miR-137 Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry 38111333
MIRT1478569 hsa-miR-1202 CLIP-seq
MIRT1478570 hsa-miR-1206 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33 Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0000422 Process Autophagy of mitochondrion IDA 25621951
GO:0000422 Process Autophagy of mitochondrion IMP 24896179
GO:0000425 Process Pexophagy TAS
GO:0004197 Function Cysteine-type endopeptidase activity IMP 24896179
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612492 20065 ENSG00000135093
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q70CQ3
Protein name Ubiquitin carboxyl-terminal hydrolase 30 (EC 3.4.19.12) (Deubiquitinating enzyme 30) (Ubiquitin thioesterase 30) (Ubiquitin-specific-processing protease 30) (Ub-specific protease 30)
Protein function Deubiquitinating enzyme tethered to the mitochondrial outer membrane that acts as a key inhibitor of mitophagy by counteracting the action of parkin (PRKN): hydrolyzes ubiquitin attached by parkin on target proteins, such as RHOT1/MIRO1 and TOMM
PDB 5OHK , 5OHN , 5OHP , 8D0A , 8D1T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 68 → 499 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscle, pancreas, liver and kidney. {ECO:0000269|PubMed:14715245}.
Sequence
Sequence length 517
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Mitophagy - animal Ub-specific processing proteases
  Pexophagy
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Malignant tumor of esophagus Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (21)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 25915564 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Brain ischemia Pubtator 33609088 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37110517 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 35031063 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35260141 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Corneal Neovascularization Corneal neovascularization Pubtator 36579659 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 34653676 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 34653676 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis Membranous Membranous glomerulonephritis Pubtator 32636217 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 35737447 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only