2. Gene
  3. USP30 - ubiquitin specific peptidase 30 Gene

USP30 - ubiquitin specific peptidase 30 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 84749 | Gene type: protein coding

About USP30

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:109,023,089-109,088,023 (from NCBI)

This gene has 10 transcripts (splice variants), 197 orthologues and 71 paralogues. Ubiquitous expression in testis (RPKM 5.7), ovary (RPKM 5.5) and 25 other tissues.

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]

USP30 Products(2)

mRNA Protein Name
NM_001301175.2 NP_001288104.1 ubiquitin carboxyl-terminal hydrolase 30 isoform 2
NM_032663.5 NP_116052.2 ubiquitin carboxyl-terminal hydrolase 30 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables cysteine-type deubiquitinase activity IDA
IDA: Inferred from direct assay
14715245 GOA
enables cysteine-type endopeptidase activity IMP
IMP: Inferred from mutant phenotype
24896179 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in autophagy of mitochondrion IDA
IDA: Inferred from direct assay
25621951 GOA
involved in autophagy of mitochondrion IMP
IMP: Inferred from mutant phenotype
24896179 GOA
involved in protein K11-linked deubiquitination IDA
IDA: Inferred from direct assay
25621951 GOA
involved in protein K6-linked deubiquitination IDA
IDA: Inferred from direct assay
25621951 GOA
involved in protein deubiquitination IDA
IDA: Inferred from direct assay
24896179 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
24896179 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

USP30 Protein Structure

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (69 - 499)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 517 a.a.
Protein Preferred Names Protein Names

ubiquitin carboxyl-terminal hydrolase 30

deubiquitinating enzyme 30

Related Diseases

Diseases Alias
Juvenile-Onset Parkinson'S Disease

Juvenile-Onset Parkinson Disease
Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-141659 CMPD-39 Inhibitor 99.65% Unkown
HY-P10416 Q14 Inhibitor / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris USP30 VGNC VGNC:52974
Rattus norvegicus USP30 RGD RGD:1307949
Bos taurus USP30 VGNC VGNC:53928
Felis catus USP30 VGNC VGNC:66878
Mus musculus USP30 MGD MGI:2140991
Macaca mulatta USP30 VGNC VGNC:79222
Others USP30 NCBI