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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EXO1
exonuclease 1
Chromosome 1 · 1q43
NCBI Gene: 9156Ensembl: ENSG00000174371.18HGNC: HGNC:3511UniProt: A8K5H6
162PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA bindingprotein binding5'-3' DNA exonuclease activitysingle-stranded DNA 5'-3' DNA exonuclease activitycancerbasal cell carcinomabreast carcinomaestrogen-receptor positive breast cancer
✦AI Summary

EXO1 is a highly conserved 5'→3' double-stranded DNA exonuclease that functions as a critical nuclease in multiple DNA repair and recombination pathways 1. In mismatch repair (MMR), EXO1 excises mismatch-containing DNA tracts directed by strand breaks and is essential for identifying and correcting replication errors 2. EXO1 also catalyzes long-range DNA end resection by degrading 5' DNA ends to generate 3' single-stranded DNA overhangs, a crucial early step required for homologous recombination repair of double-strand breaks 34. The BRCA1-BARD1 complex physically interacts with and upregulates EXO1 activity during end resection 4, while the CST complex suppresses EXO1-mediated resection 5. Disease relevance is substantial: defective MMR involving EXO1 dysfunction causes microsatellite instability, a major carcinogenic pathway in colorectal and hereditary nonpolyposis colorectal cancers 2. Loss of MLH1-mediated EXO1 regulation causes unrestrained DNA excision, activating the cGAS-STING immune pathway in dMMR tumors 6. Conversely, BRCA1-deficient tumors show elevated EXO1 expression, suggesting dependency on EXO1-mediated single-strand annealing for survival 7. EXO1 activity is tightly regulated through post-translational modifications to prevent excessive degradation and secondary lesions 1. EXO1 expression also correlates with prognosis and immunotherapy responsiveness in lung adenocarcinoma 8.

Sources cited
1
EXO1 is a component of the MMR system that repairs microsatellite instability, and its deficiency contributes to colorectal cancer and Lynch syndrome
PMID: 30561401
2
EXO1 is a conserved 5'→3' exonuclease involved in DNA replication stress, double-strand break repair, mismatch repair, and nucleotide excision repair, with activity tightly regulated by post-translational modifications
PMID: 33087266
3
EXO1 catalyzes long-range DNA end resection as part of multiple double-strand break repair pathways
PMID: 40133633
4
BRCA1-BARD1 complex physically interacts with and upregulates EXO1 activity during DNA end resection in homologous recombination
PMID: 39261729
5
The CST complex suppresses DNA end resection by EXO1 and regulates DSB repair pathway choice
PMID: 40403056
6
BRCA1-deficient tumors show elevated EXO1 expression and dependency on EXO1-mediated single-strand annealing for survival
PMID: 38266640
7
Loss of MLH1-regulated EXO1 control causes unrestrained DNA excision, activating the cGAS-STING pathway and immune response in deficient mismatch repair tumors
PMID: 33338427
8
EXO1 expression correlates with prognosis and immunotherapy responsiveness in lung adenocarcinoma and facilitates tumor cell invasion and growth
PMID: 37325647
Disease Associationsⓘ20
cancerOpen Targets
0.64Moderate
basal cell carcinomaOpen Targets
0.51Moderate
breast carcinomaOpen Targets
0.44Moderate
estrogen-receptor positive breast cancerOpen Targets
0.43Moderate
Uterine leiomyomaOpen Targets
0.43Moderate
lipomaOpen Targets
0.42Moderate
breast cancerOpen Targets
0.36Weak
neurodegenerative diseaseOpen Targets
0.36Weak
breast neoplasmOpen Targets
0.36Weak
melanomaOpen Targets
0.35Weak
cutaneous melanomaOpen Targets
0.35Weak
keratinocyte carcinomaOpen Targets
0.34Weak
luminal A breast carcinomaOpen Targets
0.34Weak
skin cancerOpen Targets
0.34Weak
uterine fibroidOpen Targets
0.34Weak
exostosisOpen Targets
0.31Weak
Hereditary breast and ovarian cancer syndromeOpen Targets
0.12Weak
hereditary breast ovarian cancer syndromeOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.12Weak
lung adenocarcinomaOpen Targets
0.11Weak
Pathogenic Variants1
NM_130398.4(EXO1):c.136del (p.Lys45_Leu46insTer)Likely pathogenic
not provided
★☆☆☆2018→ Residue 45
View on ClinVar ↗
Related Genes
BRCA1Protein interaction100%BRCA2Protein interaction100%MGMTProtein interaction100%MRE11Protein interaction100%MSH4Protein interaction100%MSH5Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
45%
Lung
2%
Ovary
1%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
EXO1BRCA1BRCA2MGMTMRE11MSH4MSH5
PROTEIN STRUCTURE
Preparing viewer…
PDB5V07 · 2.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.65–1.01]
RankingsWhere EXO1 stands among ~20K protein-coding genes
  • #2,767of 20,598
    Most Researched162 · top quartile
  • #4,763of 5,498
    Most Pathogenic Variants1
  • #9,878of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedEXO1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Microsatellite instability in colorectal cancer.
PMID: 30561401
Acta Biomed · 2018
1.00
2
EXO1 protects BRCA1-deficient cells against toxic DNA lesions.
PMID: 38266640
Mol Cell · 2024
0.90
3
CTC1-STN1-TEN1 controls DNA break repair pathway choice via DNA end resection blockade.
PMID: 40403056
Science · 2025
0.80
4
Mechanism of BRCA1-BARD1 function in DNA end resection and DNA protection.
PMID: 39261728
Nature · 2024
0.80
5
Mechanisms and regulation of DNA end resection in the maintenance of genome stability.
PMID: 40133633
Nat Rev Mol Cell Biol · 2025
0.70