DISEASES

Disease-gene associations mined from literature

Literature on USP30

USP30 [ENSP00000257548]

Ubiquitin carboxyl-terminal hydrolase 30; 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 TOMM20, thereby blocking parkin's ability to drive mitophagy (PubMed:18287522, PubMed:24896179, PubMed:25527291, PubMed:25621951). Preferentially cleaves 'Lys-6'- and 'Lys-11'-linked polyubiquitin chains, 2 types of linkage that participate to mitophagic signaling . Does not cleave efficiently polyubiquitin phosphorylated at 'Ser-65' . Acts as negative regulator of mitochondrial fusion by mediating deubiquitination of MFN1 and MFN2 (By similarity). ECO:0000269|PubMed:24896179, ECO:0000269|PubMed:25527291,; Belongs to the peptidase C19 family.

Synonyms:  USP30,  USP30p,  hUSP30,  A0A024RBM3,  B3KUS5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM