USP30 (ubiquitin specific peptidase 30)

2015-03-01  

Identity

HGNC
LOCATION
12q24.11
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 84749
MIM: 612492
HGNC: 20065
Ensembl: ENSG00000135093

Variants:

dbSNP: 84749
ClinVar: 84749
TCGA: ENSG00000135093
COSMIC: USP30

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135093ENST00000257548Q70CQ3
ENSG00000135093ENST00000257548A0A024RBM3
ENSG00000135093ENST00000377883S4R354
ENSG00000135093ENST00000392784B3KUS5
ENSG00000135093ENST00000470117S4R3D1
ENSG00000135093ENST00000536393F5H3L3
ENSG00000135093ENST00000536723F5H8D3
ENSG00000135093ENST00000539121F5GXG2

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
248961792014The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy.213
256219512015USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.73
182875222008Regulation of mitochondrial morphology by USP30, a deubiquitinating enzyme present in the mitochondrial outer membrane.55
259155642015Deubiquitinating enzymes regulate PARK2-mediated mitophagy.41
257398112015USP30 deubiquitylates mitochondrial Parkin substrates and restricts apoptotic cell death.29
289452492017Mechanism and regulation of the Lys6-selective deubiquitinase USP30.27
298957122018Dual role of USP30 in controlling basal pexophagy and mitophagy.16
301435222018Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis.5
307004972019Deubiquitinating enzyme USP30 maintains basal peroxisome abundance by regulating pexophagy.5
291780742017Beyond Deubiquitylation: USP30-Mediated Regulation of Mitochondrial Homeostasis.2

Citation

Dessen P

USP30 (ubiquitin specific peptidase 30)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55652/usp30