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

Gene ID: 100756, updated on 21-Apr-2024

Summary

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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

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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_000071.7Genomic Context describing neighboring genes Neighboring gene D-amino acid oxidase Neighboring gene SV2 related protein Neighboring gene predicted gene 16108 Neighboring gene STARR-seq mESC enhancer starr_14065 Neighboring gene legumain pseudogene Neighboring gene alkB homolog 2, alpha-ketoglutarate-dependent dioxygenase Neighboring gene uracil DNA glycosylase Neighboring gene acetyl-Coenzyme A carboxylase beta Neighboring gene STARR-seq mESC enhancer starr_14069

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Mitochondrial translation is required for sustained killing by cytotoxic T cells. Lisci M, et al. Science, 2021 Oct 15. PMID 34648346
  2. Deubiquitinating enzyme USP30 maintains basal peroxisome abundance by regulating pexophagy. Riccio V, et al. J Cell Biol, 2019 Mar 4. PMID 30700497, Free PMC Article
  3. Dynamic Regulation of Mitochondrial Import by the Ubiquitin System. Phu L, et al. Mol Cell, 2020 Mar 5. PMID 32142684
  4. A small natural molecule promotes mitochondrial fusion through inhibition of the deubiquitinase USP30. Yue W, et al. Cell Res, 2014 Apr. PMID 24513856, Free PMC Article
  5. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Mitochondrial translation is required for sustained killing by cytotoxic T cells.
    Title: Mitochondrial translation is required for sustained killing by cytotoxic T cells.
  4. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
NP_001404881.1
NP_001404882.1
NP_001404883.1
NP_001404884.1
XP_036020590.1

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)

  1. 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

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

    Status: VALIDATED

    Source sequence(s)
    AC129080

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

    Status: VALIDATED

    Source sequence(s)
    AC129080

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

    Status: VALIDATED

    Source sequence(s)
    AC129080

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

    Status: VALIDATED

    Source sequence(s)
    AC129080

RNA

  1. NR_184657.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC129080

  2. 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

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    114238395..114261571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3UN04.1 GenPept UniProtKB/Swiss-Prot:Q3UN04

Gene LinkOut

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