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Aliases for USP30 Gene

Aliases for USP30 Gene

  • Ubiquitin Specific Peptidase 30 2 3 5
  • 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 58

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 Deubiquitination and Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitin-specific protease 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 (PRKN): 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).

Additional gene information for USP30 Gene

No data available for CIViC summary , 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

Enhancers for USP30 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H109475 1.4 ENCODE dbSUPER 19.8 +454.0 453953 2.9 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF302 KCTD10 IFT81 ALKBH2 UBE3B SART3 FAM216A USP30 LINC01486 ARPC3 CORO1C
GH12H108906 1.3 FANTOM5 Ensembl ENCODE 12 -115.2 -115218 2.6 PKNOX1 ZSCAN26 NFXL1 TEAD3 ZFHX2 ZNF366 POLR2A EGR2 SP3 ZNF521 SART3 ALKBH2 KCTD10 USP30 UBE3B DAO SVOP GC12M108908 GC12M108869 PIR41002
GH12H109051 1.2 ENCODE 12.2 +30.4 30405 3.1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC ZC3H11A SART3 UBE3B KCTD10 ALKBH2 WSCD2 USP30 CORO1C RNU4-32P TCHP USP30-AS1
GH12H108605 0.9 dbSUPER 12 -417.1 -417097 1.5 HDGF ZNF473 ARNT ZNF493 YBX1 ZNF2 BRCA1 RARA TCF12 ZNF416 SART3 PWP1 ALKBH2 LOC101929162 PRDM4 UBE3B LINC01486 LOC644746 RNU4-32P USP30
GH12H109087 0.9 ENCODE 10 +64.6 64562 0.8 ARID4B THRB RAD21 RARA YY1 TCF12 CEBPB REST MIER2 NR2F2 USP30 ALKBH2 RNA5SP372
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around USP30 on UCSC Golden Path with GeneCards custom track

Genomic Locations for USP30 Gene

Genomic Locations for USP30 Gene
chr12:109,023,089-109,088,026
(GRCh38/hg38)
Size:
64,938 bases
Orientation:
Plus strand
chr12:109,460,894-109,525,831
(GRCh37/hg19)

Genomic View for USP30 Gene

Genes around USP30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for USP30 Gene

Q70CQ3:
  • HPFHGRLTS
  • AVVVHHG
  • VHHGDMHSGHF
  • GNTCFMN
  • FDSLSLSIP
  • GLVNLGN
  • AYLLFYE
  • NLGNTCF

Post-translational modifications for USP30 Gene

  • Ubiquitinated by parkin (PRKN) at Lys-235 and Lys-289, leading to its degradation.
  • Ubiquitination at posLast=235235 and Lys289
  • Modification sites at PhosphoSitePlus

Domains & Families for USP30 Gene

Gene Families for USP30 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 :
  • Belongs to the peptidase C19 family.
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 (PRKN): 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

Phenotypes From GWAS Catalog 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:0004843 thiol-dependent ubiquitin-specific protease activity IDA 14715245
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with USP30: view
genes like me logo Genes that share phenotypes with USP30: view

miRNA for USP30 Gene

miRTarBase miRNAs that target USP30

Clone Products

  • Addgene plasmids for USP30

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP30 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 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 TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with USP30: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for USP30 Gene

Pathways & Interactions for USP30 Gene

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

Pathways by source for USP30 Gene

Gene Ontology (GO) - Biological Process for USP30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000422 mitophagy IMP 24896179
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0008053 mitochondrial fusion ISS --
GO:0016579 protein deubiquitination TAS,IEA --
genes like me logo Genes that share ontologies with USP30: view

No data available for SIGNOR curated interactions for USP30 Gene

Drugs & Compounds for USP30 Gene

(1) Drugs for USP30 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
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:

Clone Products

  • Addgene plasmids for USP30

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for USP30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP30 Gene

This gene is overexpressed in Fetal ovary (13.4), Frontal cortex (13.3), Testis (11.5), and Peripheral blood mononuclear cells (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for USP30 Gene



Protein tissue co-expression partners for USP30 Gene

NURSA nuclear receptor signaling pathways regulating expression of USP30 Gene:

USP30

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.

Evidence on tissue expression from TISSUES for USP30 Gene

  • Lung(4.2)
  • Skin(4.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with USP30: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia USP30 33 34
  • 89.93 (n)
cow
(Bos Taurus)
Mammalia USP30 33 34
  • 88.14 (n)
mouse
(Mus musculus)
Mammalia Usp30 33 16 34
  • 85.62 (n)
rat
(Rattus norvegicus)
Mammalia Usp30 33
  • 85.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia USP30 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia USP30 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves USP30 33 34
  • 74.38 (n)
lizard
(Anolis carolinensis)
Reptilia USP30 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia usp30 33
  • 66.88 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100537262 33
  • 62.85 (n)
USP30 (3 of 3) 34
  • 62 (a)
OneToMany
usp30 34
  • 58 (a)
OneToMany
USP30 (2 of 3) 34
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3016 34 33
  • 48.95 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000269 33
  • 46.92 (n)
worm
(Caenorhabditis elegans)
Secernentea Y67D2.2 33 34
  • 41.4 (n)
Species where no ortholog for USP30 was found in the sources mined by GeneCards:
  • 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

(7) 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
rs1000006574 -- 109,073,201(+) TTAAA(A/G)TGTGG intron-variant
rs1000080640 -- 109,028,568(+) CACCT(A/G)CCAGG intron-variant
rs1000132937 -- 109,028,865(+) CCCGC(A/G)TGATC intron-variant
rs1000230176 -- 109,025,479(+) TAAAA(A/T)GTTAG intron-variant
rs1000274428 -- 109,038,289(+) GATTT(A/C)TGTTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv53822 CNV insertion 16902084
nsv479881 CNV novel sequence insertion 20440878
nsv478748 CNV novel sequence insertion 20440878
nsv474986 CNV novel sequence insertion 20440878
nsv472373 CNV novel sequence insertion 20440878
esv2422361 CNV duplication 17116639
esv1340901 CNV insertion 17803354
dgv1553n100 CNV gain 25217958

Variation tolerance for USP30 Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.40; 63.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP30 Gene

Human Gene Mutation Database (HGMD)
USP30
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP30

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

Disorders for USP30 Gene

Relevant External Links for USP30

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP30

No disorders were found for USP30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 (Molecular biology of the cell 2008) 3 4 22 60
  2. Ubiquitin Ser65 phosphorylation affects ubiquitin structure, chain assembly and hydrolysis. (PMID: 25527291) Wauer T … Komander D (The EMBO journal 2015) 3 4 60
  3. USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria. (PMID: 25621951) Cunningham CN … Corn JE (Nature cell biology 2015) 3 4 60
  4. The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy. (PMID: 24896179) Bingol B … Sheng M (Nature 2014) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for USP30 Gene

  • Addgene plasmids for USP30

Sources for USP30 Gene

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