USP30 - ubiquitin specific peptidase 30 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 84749

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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

USP30 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
USP30 Q70CQ3 RHBDD2 Homo sapiens Q6NTF9-3
Y2H Prey Pooling
32296183
Intra
USP30 Q70CQ3 RHBDD2 Homo sapiens Q6NTF9-3
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

USP30 抗体

製品番号 製品名 アプリケーション 反応性
HY-P810998 USP30 Antibody WB, ICC/IF Human, Mouse, Rat

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (6)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-141659 CMPD-39 Inhibitor 99.74% Unkown
HY-161909 USP30-IN-1 Inhibitor / Unkown
HY-P10416 Q14 Inhibitor 98.51% Unkown
HY-175826 USP30-IN-20 Inhibitor / Unkown
HY-182636 MT16-001 Inhibitor / Unkown
HY-182553 USP30-IN-2 Inhibitor / Unkown

Orthologs Information

生物種 Symbol 由来 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