USP8 (ubiquitin specific peptidase 8)

2003-02-01  

Identity

HGNC
LOCATION
15q21.2
LOCUSID
ALIAS
HumORF8,PITA4,SPG59,UBPY
FUSION GENES

Other Information

Locus ID:

NCBI: 9101
MIM: 603158
HGNC: 12631
Ensembl: ENSG00000138592

Variants:

dbSNP: 9101
ClinVar: 9101
TCGA: ENSG00000138592
COSMIC: USP8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138592ENST00000307179P40818
ENSG00000138592ENST00000307179A0A024R5S4
ENSG00000138592ENST00000396444P40818
ENSG00000138592ENST00000396444A0A024R5S4
ENSG00000138592ENST00000425032P40818
ENSG00000138592ENST00000558091H0YNL5
ENSG00000138592ENST00000559242H0YLS3
ENSG00000138592ENST00000559329A0A075B720
ENSG00000138592ENST00000560297H0YLH2
ENSG00000138592ENST00000560730H0YKV1
ENSG00000138592ENST00000560982H0YM17
ENSG00000138592ENST00000561211H0YLS3
ENSG00000138592ENST00000561330H0YM47
ENSG00000138592ENST00000625664H0YLS3

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Signal TransductionREACTOMER-HSA-162582
Signaling by ERBB2REACTOMER-HSA-1227986
Downregulation of ERBB2:ERBB3 signalingREACTOMER-HSA-1358803
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Regulation of FZD by ubiquitinationREACTOMER-HSA-4641263
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880
Downregulation of ERBB2 signalingREACTOMER-HSA-8863795
Signaling by METREACTOMER-HSA-6806834
Negative regulation of MET activityREACTOMER-HSA-6807004
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
165203782006The ubiquitin isopeptidase UBPY regulates endosomal ubiquitin dynamics and is essential for receptor down-regulation.99
252166782014USP8 regulates mitophagy by removing K6-linked ubiquitin conjugates from parkin.94
254858382015Mutations in the deubiquitinase gene USP8 cause Cushing's disease.87
170352392006Amino-terminal dimerization, NRDP1-rhodanese interaction, and inhibited catalytic domain conformation of the ubiquitin-specific protease 8 (USP8).66
177118582007The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation.63
222535732012USP8 promotes smoothened signaling by preventing its ubiquitination and changing its subcellular localization.54
256759822015Recurrent gain-of-function USP8 mutations in Cushing's disease.54
171218482007UBPY-mediated epidermal growth factor receptor (EGFR) de-ubiquitination promotes EGFR degradation.52
167718242006A deubiquitinating enzyme UBPY regulates the level of protein ubiquitination on endosomes.46
196840152009Endosomal deubiquitinating enzymes control ubiquitination and down-regulation of protease-activated receptor 2.42

Citation

Dessen P

USP8 (ubiquitin specific peptidase 8)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42774/usp8