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USP30 ubiquitin specific peptidase 30 [ Homo sapiens (human) ]

Gene ID: 84749, updated on 1-Mar-2021

Summary

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Official Symbol
USP30provided by HGNC
Official Full Name
ubiquitin specific peptidase 30provided by HGNC
Primary source
HGNC:HGNC:20065
See related
Ensembl:ENSG00000135093 MIM:612492
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Ubiquitous expression in testis (RPKM 5.7), ovary (RPKM 5.5) and 25 other tissues See more
Orthologs
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Genomic context

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See USP30 in Genome Data Viewer
Location:
12q24.11
Exon count:
18
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (109023089..109088026)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109460894..109525828)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SV2 related protein Neighboring gene RNA, U6 small nuclear 361, pseudogene Neighboring gene uncharacterized LOC105378256 Neighboring gene USP30 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 372 Neighboring gene alkB homolog 2, alpha-ketoglutarate dependent dioxygenase Neighboring gene uracil DNA glycosylase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Beyond Deubiquitylation: USP30-Mediated Regulation of Mitochondrial Homeostasis. Hou J, et al. Adv Exp Med Biol, 2017. PMID 29178074
  2. Regulation of mitochondrial morphology by USP30, a deubiquitinating enzyme present in the mitochondrial outer membrane. Nakamura N, et al. Mol Biol Cell, 2008 May. PMID 18287522, Free PMC Article
  3. Global Landscape and Dynamics of Parkin and USP30-Dependent Ubiquitylomes in iNeurons during Mitophagic Signaling. Ordureau A, et al. Mol Cell, 2020 Mar 5. PMID 32142685, Free PMC Article
  4. 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
  5. Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis. Gu L, et al. Cancer Res, 2018 Oct 15. PMID 30143522

See all (39) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Probing the Active Site of Deubiquitinase USP30 with Noncanonical Tryptophan Analogues.
    Title: Probing the Active Site of Deubiquitinase USP30 with Noncanonical Tryptophan Analogues.
  2. Define the primary specificity of endogenous Parkin action on mitochondria, the abundance of ubiquitin proteoforms, the role of p97 in remodeling the mitochondrial proteome downstream of Parkin, and the target specificity of USP30 during mitophagic signaling.
    Title: Global Landscape and Dynamics of Parkin and USP30-Dependent Ubiquitylomes in iNeurons during Mitophagic Signaling.
  3. 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.
  4. GNPAT and USP30-mediated stabilization of DRP1 play a critical role in the development of hepatocellular carcinoma
    Title: Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis.
  5. we use two distinct mitophagy reporter systems to reveal tonic suppression by USP30, of a PINK1-dependent component of basal mitophagy in cells lacking detectable Parkin.
    Title: Dual role of USP30 in controlling basal pexophagy and mitophagy.
  6. the role of USP30 in the dynamic networks of mitochondrial quality control and its physiological implications.
    Title: Beyond Deubiquitylation: USP30-Mediated Regulation of Mitochondrial Homeostasis.
  7. Here the authors report crystal structures of human USP30 bound to monoubiquitin and Lys6-linked diubiquitin, which explain how USP30 achieves Lys6-linkage preference through unique ubiquitin binding interfaces.
    Title: Mechanism and regulation of the Lys6-selective deubiquitinase USP30.
  8. show that USP30 delays mitophagy by delaying PARK2 recruitment to the mitochondria during mitophagy
    Title: Deubiquitinating enzymes regulate PARK2-mediated mitophagy.
  9. These results provide the first evidence for a fundamental role of USP30 in determining the threshold for mitochondrial cell death and suggest USP30 as a potential target for combinatorial anti-cancer therapy.
    Title: USP30 deubiquitylates mitochondrial Parkin substrates and restricts apoptotic cell death.
  10. The mechanism by which parkin, an E3 ubiquitin ligase, and USP30, a mitochondrion-localized deubiquitylase, regulate mitophagy, was investigated.
    Title: USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Clone Names

  • FLJ40511, MGC10702

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
autophagy of mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
autophagy of mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
mitochondrial fusion ISS
Inferred from Sequence or Structural Similarity
more info
  
negative regulation of mitophagy IEA
Inferred from Electronic Annotation
more info
  
protein K11-linked deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
protein K6-linked deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
  
protein phosphopantetheinylation IEA
Inferred from Electronic Annotation
more info
  
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
  
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
ubiquitin carboxyl-terminal hydrolase 30
Names
deubiquitinating enzyme 30
ub-specific protease 30
ubiquitin thioesterase 30
ubiquitin thiolesterase 30
ubiquitin-specific protease 30
ubiquitin-specific-processing protease 30
NP_001288104.1
NP_116052.2
XP_005254019.1
XP_005254022.1
XP_006719716.1
XP_011537196.1
XP_016875537.1
XP_016875538.1
XP_016875539.1
XP_016875540.1
XP_016875541.1
XP_016875542.1
XP_016875543.1
XP_024304995.1
XP_024304996.1

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_001301175.2 → NP_001288104.1  ubiquitin carboxyl-terminal hydrolase 30 isoform 2

    See identical proteins and their annotated locations for NP_001288104.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has a different 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC011596, AK097830, AL834278, BX095894
    Consensus CDS
    CCDS76599.1
    UniProtKB/Swiss-Prot
    Q70CQ3
    UniProtKB/TrEMBL
    B3KUS5
    Related
    ENSP00000376535.2, ENST00000392784.6
    Conserved Domains (2) summary
    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 ...
    cl02553
    Location:38 → 234
    Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...

  2. NM_032663.5 → NP_116052.2  ubiquitin carboxyl-terminal hydrolase 30 isoform 1

    See identical proteins and their annotated locations for NP_116052.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC011596, AL834278, BC004868, BX095894, HY127211
    Consensus CDS
    CCDS9123.2
    UniProtKB/Swiss-Prot
    Q70CQ3
    UniProtKB/TrEMBL
    A0A024RBM3
    Related
    ENSP00000257548.5, ENST00000257548.10
    Conserved Domains (2) summary
    COG5560
    Location:69 → 265
    UBP12; Ubiquitin C-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    109023089..109088026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020052.2 → XP_016875541.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X4

  2. XM_006719653.3 → XP_006719716.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X7

    See identical proteins and their annotated locations for XP_006719716.1

    UniProtKB/Swiss-Prot
    Q70CQ3
    UniProtKB/TrEMBL
    B3KUS5
    Conserved Domains (2) summary
    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 ...
    cl02553
    Location:38 → 234
    Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...

  3. XM_011538894.2 → XP_011537196.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X11

    Conserved Domains (1) summary
    cd02662
    Location:10 → 351
    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 ...

  4. XM_017020048.1 → XP_016875537.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X1

  5. XM_005253965.4 → XP_005254022.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X8

    See identical proteins and their annotated locations for XP_005254022.1

    Conserved Domains (1) summary
    cd02662
    Location:97 → 439
    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 ...

  6. XM_024449227.1 → XP_024304995.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X3

    Conserved Domains (2) summary
    cd02662
    Location:69 → 533
    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 ...
    cl02553
    Location:69 → 265
    Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...

  7. XM_017020049.1 → XP_016875538.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X2

  8. XM_005253962.3 → XP_005254019.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X5

    See identical proteins and their annotated locations for XP_005254019.1

    Conserved Domains (2) summary
    cd02662
    Location:69 → 499
    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 → 498
    UCH; Ubiquitin carboxyl-terminal hydrolase

  9. XM_017020053.1 → XP_016875542.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X6

  10. XM_017020054.1 → XP_016875543.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X10

  11. XM_017020051.2 → XP_016875540.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X4

  12. XM_017020050.1 → XP_016875539.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X4

  13. XM_024449228.1 → XP_024304996.1  ubiquitin carboxyl-terminal hydrolase 30 isoform X9

    Conserved Domains (1) summary
    cd02662
    Location:66 → 408
    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
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q70CQ3.1 GenPept UniProtKB/Swiss-Prot:Q70CQ3

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