Usp30 ubiquitin specific peptidase 30 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Usp30provided by MGI
Official Full Name: ubiquitin specific peptidase 30provided by MGI
Primary source: MGI:MGI:2140991
See related: Ensembl:ENSMUSG00000029592 AllianceGenome:MGI:2140991
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D5Ertd483e; 6330590F17Rik
Summary: Enables thiol-dependent deubiquitinase. Involved in mitochondrial fusion and protein deubiquitination. Located in mitochondrion. Orthologous to human USP30 (ubiquitin specific peptidase 30). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 14.2), ovary adult (RPKM 13.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 55.96 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (114238395..114261571)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (114100299..114123510)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miRNA-137-5p improves spatial memory and cognition in Alzheimer's mice by targeting ubiquitin-specific peptidase 30.
Title: miRNA-137-5p improves spatial memory and cognition in Alzheimer's mice by targeting ubiquitin-specific peptidase 30.
Knockout or inhibition of USP30 protects dopaminergic neurons in a Parkinson's disease mouse model.
Title: Knockout or inhibition of USP30 protects dopaminergic neurons in a Parkinson's disease mouse model.
Mitochondrial translation is required for sustained killing by cytotoxic T cells.
Title: Mitochondrial translation is required for sustained killing by cytotoxic T cells.
USP30 can rescue the peroxisome loss observed in some disease-causing peroxisome mutations, pointing to a potential therapeutic target.
Title: Deubiquitinating enzyme USP30 maintains basal peroxisome abundance by regulating pexophagy.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C87249 (e-PCR)
- UniSTS:167441

AI851327 (e-PCR)
- UniSTS:165420

AU016977 (e-PCR)
- UniSTS:164293

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine-type deubiquitinase activity	ISO Inferred from Sequence Orthology more info
enables cysteine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables cysteine-type peptidase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagy of mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitophagy	ISO Inferred from Sequence Orthology more info
involved_in protein K11-linked deubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein K6-linked deubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein deubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein deubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein deubiquitination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 30

Names: deubiquitinating enzyme 30; ub-specific protease 30; ubiquitin specific protease 30; ubiquitin thioesterase 30; ubiquitin thiolesterase 30; ubiquitin-specific-processing protease 30

NP_001028374.1

EC 3.4.19.12

NP_001404881.1

EC 3.4.19.12

NP_001404882.1

EC 3.4.19.12

NP_001404883.1

EC 3.4.19.12

NP_001404884.1

EC 3.4.19.12

XP_036020590.1

EC 3.4.19.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001033202.4 → NP_001028374.1 ubiquitin carboxyl-terminal hydrolase 30 isoform 1

See identical proteins and their annotated locations for NP_001028374.1

Status: VALIDATED

Source sequence(s)

AC129080

Consensus CDS

CCDS19558.1

UniProtKB/Swiss-Prot

Q3TS48, Q3TSB9, Q3UN04, Q8BVI3, Q8CHW7

Related

ENSMUSP00000031588.8, ENSMUST00000031588.12

Conserved Domains (2) summary

cd02662
Location:69 → 500

Peptidase_C19F; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

pfam00443
Location:69 → 499

UCH; Ubiquitin carboxyl-terminal hydrolase
NM_001417952.1 → NP_001404881.1 ubiquitin carboxyl-terminal hydrolase 30 isoform 2

Status: VALIDATED

Source sequence(s)

AC129080
NM_001417953.1 → NP_001404882.1 ubiquitin carboxyl-terminal hydrolase 30 isoform 3

Status: VALIDATED

Source sequence(s)

AC129080
NM_001417954.1 → NP_001404883.1 ubiquitin carboxyl-terminal hydrolase 30 isoform 4

Status: VALIDATED

Source sequence(s)

AC129080
NM_001417955.1 → NP_001404884.1 ubiquitin carboxyl-terminal hydrolase 30 isoform 5

Status: VALIDATED

Source sequence(s)

AC129080

RNA

NR_184657.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC129080
NR_184658.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC129080

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

114238395..114261571

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164697.1 → XP_036020590.1 ubiquitin carboxyl-terminal hydrolase 30 isoform X2

Conserved Domains (2) summary

COG5560
Location:38 → 234

UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]

cd02662
Location:38 → 469

Peptidase_C19F; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...