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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]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Deubiquitination |
.74
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2 | Metabolism of proteins | ||
3 | Mitophagy - animal | ||
4 | Ubiquitin-Proteasome Dependent Proteolysis |
Ubiquitin-Proteasome Dependent Proteolysis
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|
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Water | Approved | Pharma | 0 |
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: |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
scapuloperoneal spinal muscular atrophy |
|
|
3-methylglutaconic aciduria, type iii |
|
|
optic atrophy 1 |
|
|