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Aliases for USP30 Gene

Aliases for USP30 Gene

  • Ubiquitin Specific Peptidase 30 2 3
  • Ubiquitin-Specific-Processing Protease 30 4
  • Ubiquitin Specific Protease 30 2
  • Deubiquitinating Enzyme 30 4
  • Ubiquitin Thioesterase 30 4
  • Ub-Specific Protease 30 4
  • EC 3.4.19.12 4
  • EC 3.1.2.15 63

External Ids for USP30 Gene

Previous GeneCards Identifiers for USP30 Gene

  • GC12P109354
  • GC12P107953
  • GC12P109460
  • GC12P106508

Summaries for USP30 Gene

Entrez Gene Summary for USP30 Gene

  • 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]

GeneCards Summary for USP30 Gene

USP30 (Ubiquitin Specific Peptidase 30) is a Protein Coding gene. Among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include ubiquitin thiolesterase activity and cysteine-type peptidase activity.

UniProtKB/Swiss-Prot for USP30 Gene

  • Deubiquitinating enzyme tethered to the mitochondrial outer membrane that acts as a key inhibitor of mitophagy by counteracting the action of parkin (PARK2): hydrolyzes ubiquitin attached by parkin on target proteins, such as RHOT1/MIRO1 and TOMM20, thereby blocking parkins ability to drive mitophagy (PubMed:18287522, PubMed:24896179, PubMed:25527291, PubMed:25621951). Preferentially cleaves Lys-6- and Lys-11-linked polyubiquitin chains, 2 types of linkage that participate to mitophagic signaling (PubMed:25621951). Does not cleave efficiently polyubiquitin phosphorylated at Ser-65 (PubMed:25527291). Acts as negative regulator of mitochondrial fusion by mediating deubiquitination of MFN1 and MFN2 (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP30 Gene

Genomics for USP30 Gene

Regulatory Elements for USP30 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for USP30 Gene

Start:
109,023,089 bp from pter
End:
109,088,026 bp from pter
Size:
64,938 bases
Orientation:
Plus strand

Genomic View for USP30 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for USP30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP30 Gene

Proteins for USP30 Gene

  • Protein details for USP30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q70CQ3-UBP30_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 30
    Protein Accession:
    Q70CQ3
    Secondary Accessions:
    • Q8WTU7
    • Q96JX4
    • Q9BSS3

    Protein attributes for USP30 Gene

    Size:
    517 amino acids
    Molecular mass:
    58503 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH04868.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55392.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for USP30 Gene

Proteomics data for USP30 Gene at MOPED

Selected DME Specific Peptides for USP30 Gene

Post-translational modifications for USP30 Gene

  • Ubiquitinated by parkin (PARK2) at Lys-235 and Lys-289, leading to its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains for USP30 Gene

Gene Families for USP30 Gene

HGNC:
  • USP :Ubiquitin-specific peptidases

Protein Domains for USP30 Gene

Suggested Antigen Peptide Sequences for USP30 Gene

Graphical View of Domain Structure for InterPro Entry

Q70CQ3

UniProtKB/Swiss-Prot:

UBP30_HUMAN :
  • Q70CQ3
Domain:
  • Contains 1 USP domain.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP30: view

Function for USP30 Gene

Molecular function for USP30 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by the diterpenoid derivative 15-oxospiramilactone (S3).
UniProtKB/Swiss-Prot Function: Deubiquitinating enzyme tethered to the mitochondrial outer membrane that acts as a key inhibitor of mitophagy by counteracting the action of parkin (PARK2): hydrolyzes ubiquitin attached by parkin on target proteins, such as RHOT1/MIRO1 and TOMM20, thereby blocking parkins ability to drive mitophagy (PubMed:18287522, PubMed:24896179, PubMed:25527291, PubMed:25621951). Preferentially cleaves Lys-6- and Lys-11-linked polyubiquitin chains, 2 types of linkage that participate to mitophagic signaling (PubMed:25621951). Does not cleave efficiently polyubiquitin phosphorylated at Ser-65 (PubMed:25527291). Acts as negative regulator of mitochondrial fusion by mediating deubiquitination of MFN1 and MFN2 (By similarity).

Enzyme Numbers (IUBMB) for USP30 Gene

Gene Ontology (GO) - Molecular Function for USP30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IMP 24896179
GO:0004221 ubiquitin thiolesterase activity --
GO:0004843 ubiquitin-specific protease activity IDA 14715245
GO:0005515 protein binding --
GO:0008234 cysteine-type peptidase activity --
genes like me logo Genes that share ontologies with USP30: view

Phenotypes for USP30 Gene

GenomeRNAi human phenotypes for USP30:
genes like me logo Genes that share phenotypes with USP30: view

Animal Model Products

CRISPR Products

miRNA for USP30 Gene

miRTarBase miRNAs that target USP30

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for USP30

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for USP30 Gene

Localization for USP30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP30 Gene

Mitochondrion outer membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for USP30 Gene COMPARTMENTS Subcellular localization image for USP30 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for USP30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005741 mitochondrial outer membrane IDA 24896179
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with USP30: view

Pathways for USP30 Gene

genes like me logo Genes that share pathways with USP30: view

Pathways by source for USP30 Gene

1 Qiagen pathway for USP30 Gene

Gene Ontology (GO) - Biological Process for USP30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000422 mitochondrion degradation IMP 24896179
GO:0006511 ubiquitin-dependent protein catabolic process --
GO:0008053 mitochondrial fusion ISS --
GO:0016579 protein deubiquitination IDA 14715245
GO:0035871 protein K11-linked deubiquitination IDA 25621951
genes like me logo Genes that share ontologies with USP30: view

Compounds for USP30 Gene

(1) HMDB Compounds for USP30 Gene

Compound Synonyms Cas Number PubMed IDs
Water
  • Dihydrogen oxide
7732-18-5
genes like me logo Genes that share compounds with USP30: view

Transcripts for USP30 Gene

Unigene Clusters for USP30 Gene

Ubiquitin specific peptidase 30:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for USP30

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for USP30 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16a · 16b · 16c
SP1: - - - - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:

Relevant External Links for USP30 Gene

GeneLoc Exon Structure for
USP30
ECgene alternative splicing isoforms for
USP30

Expression for USP30 Gene

mRNA expression in normal human tissues for USP30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for USP30 Gene

SOURCE GeneReport for Unigene cluster for USP30 Gene Hs.486434

mRNA Expression by UniProt/SwissProt for USP30 Gene

Q70CQ3-UBP30_HUMAN
Tissue specificity: Expressed in skeletal muscle, pancreas, liver and kidney.
genes like me logo Genes that share expressions with USP30: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for USP30 Gene

Orthologs for USP30 Gene

This gene was present in the common ancestor of animals.

Orthologs for USP30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USP30 35
  • 99.87 (n)
  • 100 (a)
USP30 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia USP30 35
  • 88.14 (n)
  • 91.3 (a)
USP30 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia USP30 35
  • 89.93 (n)
  • 93.1 (a)
USP30 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Usp30 35
  • 85.62 (n)
  • 89.75 (a)
Usp30 16
Usp30 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia USP30 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia USP30 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Usp30 35
  • 85.56 (n)
  • 88.78 (a)
chicken
(Gallus gallus)
Aves USP30 35
  • 74.38 (n)
  • 76.66 (a)
USP30 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USP30 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp30 35
  • 66.88 (n)
  • 69.46 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100537262 35
  • 62.85 (n)
  • 64.8 (a)
usp30 36
  • 58 (a)
OneToMany
USP30 (2 of 3) 36
  • 55 (a)
OneToMany
USP30 (3 of 3) 36
  • 62 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000269 35
  • 46.92 (n)
  • 39.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3016 35
  • 48.95 (n)
  • 41.01 (a)
CG3016 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y67D2.2 35
  • 41.4 (n)
  • 31.92 (a)
Y67D2.2 36
  • 27 (a)
OneToOne
Species with no ortholog for USP30:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for USP30 Gene

ENSEMBL:
Gene Tree for USP30 (if available)
TreeFam:
Gene Tree for USP30 (if available)

Paralogs for USP30 Gene

Selected SIMAP similar genes for USP30 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with USP30: view

No data available for Paralogs for USP30 Gene

Variants for USP30 Gene

Sequence variations from dbSNP and Humsavar for USP30 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1059257 -- 109,087,634(+) CTGTA(A/G)CTTTA utr-variant-3-prime
rs1368556 -- 109,032,515(+) GAACA(C/T)TGTGT intron-variant
rs1433314 -- 109,031,449(+) TTAAA(A/C)GTTAA intron-variant
rs1433315 -- 109,031,501(+) AGGTA(A/T)ATACA intron-variant
rs1433316 -- 109,034,163(+) GTGAC(A/T)TGTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for USP30 Gene

Variant ID Type Subtype PubMed ID
esv2422361 CNV Duplication 17116639
esv1340901 CNV Insertion 17803354
nsv53822 CNV Insertion 16902084

Relevant External Links for USP30 Gene

HapMap Linkage Disequilibrium report
USP30
Human Gene Mutation Database (HGMD)
USP30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP30 Gene

Disorders for USP30 Gene

No disorders were found for USP30 Gene.

No data available for UniProtKB/Swiss-Prot for USP30 Gene

Publications for USP30 Gene

  1. Regulation of mitochondrial morphology by USP30, a deubiquitinating enzyme present in the mitochondrial outer membrane. (PMID: 18287522) Nakamura N. … Hirose S. (Mol. Biol. Cell 2008) 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PMID: 14715245) Quesada V. … Lopez-Otin C. (Biochem. Biophys. Res. Commun. 2004) 3 4

Products for USP30 Gene

Sources for USP30 Gene

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