USP30 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
USP30
Official Name
ubiquitin specific peptidase 30 [Source:HGNC Symbol;Acc:HGNC:20065]
Ensembl ID
ENSG00000135093
Bio databases IDs NCBI: 84749 Ensembl: ENSG00000135093
Aliases ubiquitin specific peptidase 30
Synonyms 6330590F17RIK, D5Ertd483e, ubiquitin specific peptidase 30
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human USP30 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • cysteine endopeptidase
  • peptidase
  • ubiquitin-specific protease
  • Ubiquitin carboxyl-terminal hydrolase
  • protein binding
  • Peptidase_C19
  • ubiquitin-like-specific protease

Pathways

Biological processes and signaling networks where the USP30 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • motor dysfunction
regulated by
  • methylphenidate
  • UMOD
regulates
role in cell
  • loss
  • respiration in
  • mitophagy in
  • pexophagy in
  • fusion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial outer membrane
  • peroxisome membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human USP30 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein deubiquitination
  • protein K11-linked deubiquitination
  • proteolysis
  • mitochondrial fusion
  • macropexophagy
  • protein K6-linked deubiquitination
  • mitochondrion degradation

Cellular Component

Where in the cell the gene product is active
  • peroxisomal membrane
  • nucleus
  • mitochondrion
  • cytosol
  • mitochondrial outer membrane

Molecular Function

What the gene product does at the molecular level
  • ubiquitin-specific protease activity
  • protein binding
  • cysteine-type endopeptidase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.