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27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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USP8
ubiquitin specific peptidase 8
Chromosome 15 Β· 15q21.2
NCBI Gene: 9101Ensembl: ENSG00000138592.16HGNC: HGNC:12631UniProt: A8K8N5
210PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProtease
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
midbodycysteine-type deubiquitinase activityprotein bindingcadherin bindingCushing syndromeneurodegenerative diseaseosteoarthritis, kneeosteoarthritis
✦AI Summary

USP8 (ubiquitin specific peptidase 8) is a deubiquitinating enzyme that removes ubiquitin chains from target proteins to regulate their stability and function 1. The enzyme processes both K48-linked and K63-linked ubiquitin chains, with enhanced catalytic activity during M phase 2. USP8 plays crucial roles in multiple cellular processes including protein stability regulation, endosomal trafficking, and immune signaling. Mechanistically, USP8 stabilizes key proteins through deubiquitination, including O-GlcNAc transferase (OGT) by preventing K48-linked ubiquitination at the K117 site 1, and PD-L1 by antagonizing K48-linked degradation while promoting K63-linked ubiquitination 23. The enzyme also deubiquitinates DDX3X to enhance cGAS phase separation and activation in innate immune responses 4. Disease relevance includes pituitary neuroendocrine tumors, where USP8 mutations are associated with corticotroph adenomas and Cushing syndrome 5. USP8 shows therapeutic potential as an oncology target, as its inhibition promotes ferroptosis in hepatocellular carcinoma 1 and enhances anti-PD-1/PD-L1 immunotherapy efficacy 23. Additionally, USP8 variants are associated with Parkinson's disease risk 67, suggesting broader neurological involvement.

Sources cited
1
USP8 is a deubiquitinating enzyme that stabilizes OGT by preventing K48-linked ubiquitination at K117
PMID: 37867237
2
USP8 processes K48 and K63-linked ubiquitin chains and regulates PD-L1 stability through ubiquitination mechanisms
PMID: 35361799
3
USP8 deubiquitinates PD-L1 and its inhibition enhances anti-PD-L1 immunotherapy in pancreatic cancer
PMID: 36539510
4
USP8 deubiquitinates DDX3X to enhance cGAS phase separation and activation in immune responses
PMID: 38795350
5
USP8 mutations are associated with corticotroph pituitary adenomas
PMID: 31883967
6
USP8 variants are associated with Parkinson's disease risk in multi-ancestry genome-wide studies
PMID: 38155330
7
USP8 is identified as a potential therapeutic target for Parkinsonian cognitive disorders
PMID: 40355913
Disease Associationsβ“˜21
Cushing syndromeOpen Targets
0.62Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
osteoarthritis, kneeOpen Targets
0.51Moderate
osteoarthritisOpen Targets
0.51Moderate
pituitary-dependent Cushing's diseaseOpen Targets
0.50Moderate
asthmaOpen Targets
0.49Moderate
osteoarthritis, hipOpen Targets
0.41Moderate
total knee arthroplastyOpen Targets
0.41Moderate
autosomal recessive spastic paraplegia type 59Open Targets
0.40Weak
ACTH-Producing Pituitary Gland AdenomaOpen Targets
0.39Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Merkel cell skin cancerOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
allergic diseaseOpen Targets
0.34Weak
atopyOpen Targets
0.34Weak
mental or behavioural disorderOpen Targets
0.34Weak
Pituitary adenoma 4, ACTH-secretingUniProt
Pathogenic Variants5
NM_005154.5(USP8):c.2971C>T (p.Arg991Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 991
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)Pathogenic
Pituitary dependent hypercortisolism
β˜†β˜†β˜†β˜†2017β†’ Residue 718
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)Pathogenic
Pituitary dependent hypercortisolism
β˜†β˜†β˜†β˜†2017β†’ Residue 719
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)Pathogenic
Pituitary dependent hypercortisolism
β˜†β˜†β˜†β˜†2017β†’ Residue 720
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)Pathogenic
Pituitary dependent hypercortisolism
β˜†β˜†β˜†β˜†2014β†’ Residue 718
View on ClinVar β†—
Related Genes
CHMP1BProtein interaction100%UBCProtein interaction99%CHMP4CProtein interaction98%YWHABProtein interaction98%HGSProtein interaction98%PRKNProtein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
87%
Brain
80%
Ovary
68%
Lung
66%
Liver
62%
Gene Interaction Network
Click a node to explore
USP8CHMP1BUBCCHMP4CYWHABHGSPRKN
PROTEIN STRUCTURE
Preparing viewer…
PDB6F09 Β· 1.59 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.28Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.20 [0.14–0.28]
RankingsWhere USP8 stands among ~20K protein-coding genes
  • #1,992of 20,598
    Most Researched210 Β· top 10%
  • #3,483of 5,498
    Most Pathogenic Variants5
  • #986of 17,882
    Most Constrained (LOEUF)0.28 Β· top 10%
Genes detectedUSP8
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Ubiquitin-Specific Proteases (USPs) and Metabolic Disorders.
PMID: 36834633
Int J Mol Sci Β· 2023
1.00
2
Targeting USP8 Inhibits O-GlcNAcylation of SLC7A11 to Promote Ferroptosis of Hepatocellular Carcinoma via Stabilization of OGT.
PMID: 37867237
Adv Sci (Weinh) Β· 2023
0.90
3
USP8 inhibition reshapes an inflamed tumor microenvironment that potentiates the immunotherapy.
PMID: 35361799
Nat Commun Β· 2022
0.80
4
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
PMID: 38155330
Nat Genet Β· 2024
0.70
5
Genome-Wide CRISPR-Cas9 Screens Expose Genetic Vulnerabilities and Mechanisms of Temozolomide Sensitivity in Glioblastoma Stem Cells.
PMID: 30995489
Cell Rep Β· 2019
0.68