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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP1
ubiquitin specific peptidase 1
Chromosome 1 · 1p31.3
NCBI Gene: 7398Ensembl: ENSG00000162607.14HGNC: HGNC:12607UniProt: O94782
138PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairProtease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmprotein bindingpeptidase activityneurodegenerative diseasemetabolic diseaseHypercholesterolemiafamilial hyperlipidemia
✦AI Summary

USP1 (ubiquitin specific peptidase 1) is a deubiquitinating enzyme that plays critical roles in DNA damage response and cellular homeostasis. USP1 functions as a negative regulator of DNA damage repair by specifically deubiquitinating monoubiquitinated FANCD2 and PCNA, thereby controlling translesion synthesis and interstrand crosslink repair pathways 1. The enzyme requires interaction with WDR48 for optimal catalytic activity and works to restrain PCNA degradation during DNA repair processes 2. Beyond DNA repair, USP1 regulates immune cell differentiation by deubiquitinating and stabilizing TAZ, promoting Th17 cell development while inhibiting regulatory T cell differentiation 3. In cancer biology, USP1 contributes to therapeutic resistance through multiple mechanisms, including stabilization of MAST1 protein to confer cisplatin resistance 4 and regulation of PARP1 trapping and PARylation activity 5. USP1 is particularly important in BRCA-mutant tumors, where it represents a synthetic lethal target, and USP1 inhibitors like KSQ-4279 show promise in overcoming PARP inhibitor resistance 6. The clinical significance of USP1 extends to ovarian cancer drug resistance and metabolic disorders, making it an attractive therapeutic target 78.

Sources cited
1
USP1 functions as negative regulator of DNA damage repair by deubiquitinating FANCD2 and PCNA
PMID: 40274197
2
USP1 requires WDR48 interaction and restrains PCNA degradation during DNA repair
PMID: 40205037
3
USP1 regulates Th17/Treg cell balance by deubiquitinating and stabilizing TAZ
PMID: 36600049
4
USP1 stabilizes MAST1 protein and contributes to cisplatin resistance
PMID: 35966591
5
USP1 regulates PARP1 trapping and PARylation activity
PMID: 39536107
6
USP1 represents synthetic lethal target in BRCA-mutant tumors and USP1 inhibitors overcome PARP inhibitor resistance
PMID: 39402989
7
USP1 contributes to ovarian cancer drug resistance
PMID: 39430244
8
USP1 modulates metabolic disorders and diabetic complications
PMID: 36834633
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.45Moderate
metabolic diseaseOpen Targets
0.37Weak
HypercholesterolemiaOpen Targets
0.31Weak
familial hyperlipidemiaOpen Targets
0.27Weak
gastric ulcerOpen Targets
0.26Weak
hemorrhageOpen Targets
0.24Weak
metabolic syndromeOpen Targets
0.24Weak
response to statinOpen Targets
0.18Weak
diabetes mellitusOpen Targets
0.17Weak
oral cavity carcinomaOpen Targets
0.15Weak
non-alcoholic fatty liver diseaseOpen Targets
0.15Weak
hyperlipidemiaOpen Targets
0.14Weak
Disorder of lipid metabolismOpen Targets
0.13Weak
coronary artery calcificationOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
osteosarcomaOpen Targets
0.10Suggestive
acute lymphoblastic leukemiaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
liver cancerOpen Targets
0.09Suggestive
infectionOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FAAP100Protein interaction100%UCHL5Protein interaction100%PCNAProtein interaction100%WDR48Protein interaction100%YOD1Protein interaction99%PHLPP2Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
46%
Ovary
26%
Heart
25%
Lung
18%
Liver
13%
Gene Interaction Network
Click a node to explore
USP1FAAP100UCHL5PCNAWDR48YOD1PHLPP2
PROTEIN STRUCTURE
Preparing viewer…
PDB7ZH4 · 2.49 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.24 [0.17–0.37]
RankingsWhere USP1 stands among ~20K protein-coding genes
  • #3,357of 20,598
    Most Researched138 · top quartile
  • #1,671of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedUSP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ubiquitin-Specific Proteases (USPs) and Metabolic Disorders.
PMID: 36834633
Int J Mol Sci · 2023
1.00
2
USP1 deubiquitinates PARP1 to regulate its trapping and PARylation activity.
PMID: 39536107
Sci Adv · 2024
0.90
3
USP1 inhibition: A journey from target discovery to clinical translation.
PMID: 40274197
Pharmacol Ther · 2025
0.80
4
USP1-regulated reciprocal differentiation of Th17 cells and Treg cells by deubiquitinating and stabilizing TAZ.
PMID: 36600049
Cell Mol Immunol · 2023
0.70
5
CRISPR/Cas9-based genome-wide screening for deubiquitinase subfamily identifies USP1 regulating MAST1-driven cisplatin-resistance in cancer cells.
PMID: 35966591
Theranostics · 2022
0.60