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USP30 - ubiquitin specific peptidase 30 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene 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	References	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	References	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	References	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

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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810286	USP30 Antibody (YA9630)	WB, ICC/IF, IF-Tissue, IP, ELISA	human
HY-P810998	USP30 Antibody	WB, ICC/IF	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-141659	CMPD-39	Inhibitor	99.74%	Unkown
HY-175826	USP30-IN-20	Inhibitor	/	Unkown
HY-P10416	Q14	Inhibitor	98.51%	Unkown
HY-182636	MT16-001	Inhibitor	/	Unkown
HY-182553	USP30-IN-2	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