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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] See more...
Aliases for USP30 Gene
Aliases for USP30 Gene
External Ids for USP30 Gene
- HGNC: 20065
- Entrez Gene: 84749
- Ensembl: ENSG00000135093
- OMIM: 612492
- UniProtKB: Q70CQ3
Previous GeneCards Identifiers for USP30 Gene
- GC12P109354
- GC12P107953
- GC12P109460
- GC12P106508
Summaries 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. Diseases associated with USP30 include Scapuloperoneal Spinal Muscular Atrophy and 3-Methylglutaconic Aciduria, Type Iii. Among its related pathways are Metabolism of proteins and Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is USP32.
UniProtKB/Swiss-Prot Summary 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 parkin's 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 in 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
- HGNC(20065)
- Entrez Gene(84749)
- Ensembl(ENSG00000135093)
- OMIM(612492)
- UniProtKB(Q70CQ3)
- Open Targets Platform(ENSG00000135093)
- Search for USP30 at DataMed
- Search for USP30 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP30 Gene
Genomics for USP30 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for USP30 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around USP30 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP30
- Top Transcription factor binding sites by QIAGEN in the USP30 gene promoter:
-
- AREB6
- ATF-2
- c-Ets-1
- Elk-1
- En-1
- Hlf
- PPAR-alpha
- SREBP-1a
- SREBP-1b
- SREBP-1c
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)
- Size:
- 64,938 bases
- Orientation:
- Plus strand
Genomic View for USP30 Gene
Genes around USP30 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.11 by HGNC
- 12q24.11 by Entrez Gene
- 12q24.11 by Ensembl
USP30 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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 Lys235 and Lys289
- NX_Q70CQ3 (NX_Q70CQ3-1)
- Modification sites at PhosphoSitePlus
Other Protein References for USP30 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ USP30 Antibody
-
Custom Antibody ServicesOriGene Antibodies for USP30
- Novus Biologicals Antibodies for USP30
-
Abcam antibodies for USP30
- Invitrogen Antibodies for USP30 (AFLGC-USP30)
-
Santa Cruz Biotechnology (SCBT) Antibodies for USP30
- Sino Biological Antibodies for USP30
Protein Products
-
OriGene Purified Proteins for USP30
- Search Origene for MassSpec and Protein Over-expression Lysates for USP30
- Origene Custom Protein Services for USP30
- Sino Biological Recombinant Proteins for USP30
- Sino Biological Cell Lysates for USP30
- antibodies-online: Show 6 available Usp30 Proteins ranked by validation data
- Compare Top Usp30 Proteins
-
Quality Products:
-
Abcam proteins for USP30
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
- InterPro:
- Blocks:
-
- Ubiquitin thiolesterase, family 2
- ProtoNet:
Suggested Antigen Peptide Sequences for USP30 Gene
- GenScript: Design optimal peptide antigens:
-
- Ubiquitin carboxyl-terminal hydrolase (B3KUS5_HUMAN)
- Ubiquitin-specific-processing protease 30 (UBP30_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q70CQ3- Family:
-
- Belongs to the peptidase C19 family.
Function for USP30 Gene
Molecular function for USP30 Gene
- 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 parkin's 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 in 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).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=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).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:14715245};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by the diterpenoid derivative 15-oxospiramilactone (S3).
Enzyme Numbers (IUBMB) for USP30 Gene
Phenotypes From GWAS Catalog 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 | IBA,IDA | 14715245 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008234 | cysteine-type peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for USP30 Gene
- MGI mutant phenotypes for USP30:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for USP30:
-
- no effect
- Decreased vaccinia virus (VACV) infection
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- Synthetic lethal with Ras
- Increased G1 DNA content
- Increased centriole number
- Decreased viability in colon lineage
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP)
Animal Models for USP30 Gene
- MGI Knock Outs for USP30:
-
- Usp30 Usp30<tm1.1Tac>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for USP30 - Select products 50% OFF >
- * USP30 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for USP30
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for USP30
-
Santa Cruz Biotechnology (SCBT) CRISPR for USP30
miRNA for USP30 Gene
- miRTarBase miRNAs that target USP30
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for USP30
- Browse OriGene Inhibitory RNA Products For USP30
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP30
Clone Products
- Applied Biological Materials (abm): Clones for USP30 - Select products 50% OFF >
- * USP30 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for USP30
- Addgene plasmids for USP30
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for USP30
Cell Line Products
-
Horizon Cell Lines for USP30
No data available for Human Phenotype Ontology , 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| plasma membrane | 2 |
| peroxisome | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| lysosome | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005739 | mitochondrion | ISS | -- |
| GO:0005741 | mitochondrial outer membrane | TAS | -- |
| GO:0005829 | cytosol | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for USP30 Gene
Pathways & Interactions for USP30 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Deubiquitination |
.74
|
|
| 2 | Metabolism of proteins | ||
| 3 | Mitophagy - animal | ||
| 4 | Ubiquitin-Proteasome Dependent Proteolysis |
Ubiquitin-Proteasome Dependent Proteolysis
-
|
|
Pathways by source for USP30 Gene
4 Reactome pathways for USP30 Gene
1 KEGG pathway for USP30 Gene
1 Qiagen pathway for USP30 Gene
- Ubiquitin-Proteasome Dependent Proteolysis
Interacting Proteins for USP30 Gene
Selected Interacting proteins:
Q70CQ3-UBP30_HUMAN
ENSP00000257548
for USP30 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for USP30
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000422 | autophagy of mitochondrion | IMP | 24896179 |
| GO:0006508 | proteolysis | IEA | -- |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
| GO:0008053 | mitochondrial fusion | ISS | -- |
| GO:0016579 | protein deubiquitination | IEA,TAS | -- |
No data available for SIGNOR curated interactions for USP30 Gene
Drugs & Compounds for USP30 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Water | Approved | Pharma | 0 |
Transcripts for USP30 Gene
mRNA/cDNA for USP30 Gene
- 2 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000257548 3749 nts (view in UCSC)
- ENST00000377883 805 nts (view in UCSC)
- ENST00000392784 2483 nts (view in UCSC)
- ENST00000467307 569 nts (view in UCSC)
- ENST00000470117 615 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for USP30 - Select products 50% OFF >
- * USP30 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for USP30
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for USP30
-
Santa Cruz Biotechnology (SCBT) CRISPR for USP30
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for USP30
- Browse OriGene Inhibitory RNA Products For USP30
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP30
Clone Products
- Applied Biological Materials (abm): Clones for USP30 - Select products 50% OFF >
- * USP30 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for USP30
- Addgene plasmids for USP30
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for USP30
| 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
Expression for USP30 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
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, MaxQB, and MOPED for USP30 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP30
SOURCE GeneReport for Unigene cluster for USP30 Gene:
Hs.486434mRNA 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
- Skin(4.4)
- Lung(4.3)
- Nervous system(3)
- Liver(2.1)
Primer Products
-
OriGene qPCR primer pairs for USP30
-
OriGene qPCR primer pairs and template standards for USP30
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | USP30 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | USP30 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | USP30 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Usp30 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Usp30 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | USP30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | USP30 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | USP30 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | USP30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | usp30 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100537262 30 |
|
||
| USP30 (3 of 3) 31 |
|
OneToMany | |||
| usp30 31 |
|
OneToMany | |||
| USP30 (2 of 3) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG3016 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000269 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | Y67D2.2 30 31 |
|
OneToOne |
- Species where no ortholog for USP30 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for USP30: view image
Paralogs for USP30 Gene
Paralogs for USP30 Gene
- USP32 5
- USP6 5
- USP19 5
- USP4 5
- USP15 5
- USP11 5
- USP31 5
- USP45 5
- USP16 5
- USP51 5
- USP43 5
- USP8 5
- USP44 5
- USP3 5
- USP22 5
- USP2 5
- USP38 5
- USP49 5
- USP27X 5
- USP26 5
- USP33 5
- USP21 5
- USP5 5
- USP35 5
- USP28 5
- USP17L2 5
- USP42 5
- USP20 5
- USP29 5
- USP37 5
- USP17L4 5
- USP17L1 5
- USP17L3 5
- USP17L8 5
- USP17L15 5
- USP17L13 5
- USP17L20 5
- USP17L25 5
- USP17L29 5
- USP17L5 5
- USP17L21 5
- USP17L22 5
- USP17L10 5
- USP17L24 5
- USP17L27 5
- USP17L12 5
- USP17L30 5
- USP17L19 5
- USP17L28 5
- USP17L26 5
- USP17L18 5
- USP17L11 5
- USP17L17 5
- USP25 5
- USP13 5
- USP36 5
- USP10 5
- USP48 5
- USP9X 5
- USP47 5
- USP9Y 5
- USP14 5
- USP17L7 5
- USP18 5
- USP24 5
- USP1 5
- USP40 5
- USP50 5
- USP41 5
- USP34 5
- USP7 5
- USP17L23 5
(7) SIMAP similar genes for USP30 Gene using alignment to 7 proteins:
- UBP30_HUMAN
- B3KUS5_HUMAN
- F5GXG2_HUMAN
- F5H3L3_HUMAN
- F5H8D3_HUMAN
- S4R354_HUMAN
- S4R3D1_HUMAN
Variants for USP30 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP30 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 770233 | Benign: not provided | 109,067,525(+) | C/A | SYNONYMOUS_VARIANT | |
| rs16939904 | - | p.His357Arg |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1553n100 | CNV | gain | 25217958 |
| esv1340901 | CNV | insertion | 17803354 |
| esv2422361 | CNV | duplication | 17116639 |
| nsv472373 | CNV | novel sequence insertion | 20440878 |
| nsv474986 | CNV | novel sequence insertion | 20440878 |
| nsv478748 | CNV | novel sequence insertion | 20440878 |
| nsv479881 | CNV | novel sequence insertion | 20440878 |
| nsv53822 | CNV | insertion | 16902084 |
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)
Additional Variant Information for USP30 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP30 Gene
Disorders for USP30 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| scapuloperoneal spinal muscular atrophy |
|
|
| 3-methylglutaconic aciduria, type iii |
|
|
| optic atrophy 1 |
|
|
Search USP30 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for USP30
No data available for UniProtKB/Swiss-Prot and Genatlas for USP30 Gene
Publications for USP30 Gene
- 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 23
- Ubiquitin Ser65 phosphorylation affects ubiquitin structure, chain assembly and hydrolysis. (PMID: 25527291) Wauer T … Komander D (The EMBO journal 2015) 3 4
- USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria. (PMID: 25621951) Cunningham CN … Corn JE (Nature cell biology 2015) 3 4
- The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy. (PMID: 24896179) Bingol B … Sheng M (Nature 2014) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for USP30 Gene
- Custom Antibody ServicesOriGene Antibodies for USP30
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for USP30
- Search Origene for MassSpec and Protein Over-expression Lysates for USP30
- Origene Custom Protein Services for USP30
- Origene shrna, sirna, and RNAi products in human, mouse, rat for USP30
- Browse OriGene Inhibitory RNA Products For USP30
- OriGene qPCR primer pairs for USP30
- OriGene qPCR primer pairs and template standards for USP30
- OriGene CRISPR knockouts for USP30
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For USP30
- Sino Biological Human cDNA Clone for USP30
- Sino Biological Recombinant Proteins for USP30
- Sino Biological Cell Lysates for USP30
- Sino Biological Antibodies for USP30
- Browse Sino Biological Assays
- Browse cDNA Clones
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for USP30
- Novus Biologicals proteins and lysates for USP30
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- Abcam antibodies for USP30
- Abcam proteins for USP30
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- Browse Primary Antibodies
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- Invitrogen Antibodies for USP30 (AFLGC-USP30)
- VectorBuilder Custom and pre-made DNA vectors for USP30 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for USP30 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for USP30 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for USP30 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for USP30
- Addgene plasmids for USP30
- antibodies-online: Show 17 available Usp30 Antibodies ranked by validation data
- Compare Top Usp30 Antibodies
- antibodies-online: Search results for available Usp30 related products ranked by validation data
- antibodies-online: Show 6 available Usp30 Proteins ranked by validation data
- Compare Top Usp30 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for USP30
- Search Santa Cruz Biotechnology (SCBT) for USP30 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for USP30
- Horizon Cell Lines for USP30
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for USP30
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for USP30
- Search GeneCopoeia for miRNA 3'UTR Target clone products for USP30
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP30
Sources for USP30 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB