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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TOP1
DNA topoisomerase I
Chromosome 20 · 20q12
NCBI Gene: 7150Ensembl: ENSG00000198900.7HGNC: HGNC:11986UniProt: P11387
528PubMed Papers
20Diseases
26Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedOncogene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleolusRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA bindingchromatin bindingsmall cell lung carcinomaneoplasmbreast cancercervical cancer
✦AI Summary

TOP1 (DNA topoisomerase I) is an essential enzyme that manages DNA topology by transiently cleaving and rejoining single DNA strands, thereby releasing supercoiling and torsional tension introduced during replication and transcription 1. The enzyme forms a covalent DNA-(3'-phosphotyrosyl)-enzyme intermediate through its catalytic tyrosine, allowing controlled strand rotation around the intact phosphodiester bond to remove supercoils before religation restores the DNA backbone. Beyond canonical topoisomerase activity, TOP1 regulates circadian transcription of BMAL1 by modifying chr20 structure and functions as an RNA-binding protein that directly binds mRNAs, with RNA inhibiting TOP1 activity during RNAPII-dependent transcription 2. Clinically, TOP1 is the primary target of camptothecin-derived anticancer agents including irinotecan and topotecan 1. Newer derivatives like exatecan show enhanced TOP1 trapping and DNA damage compared to classical inhibitors 3. TOP1 inhibitor-containing antibody-drug conjugates (ADCs) have improved survival in metastatic breast cancer, though resistance-associated TOP1 mutations (S57C, R364H, W401C, G359E) emerge in ~13% of ADC-treated patients, mediating cross-resistance between sequential ADCs 4. Sequential dosing of TOP1 inhibitor-ADCs with PARP inhibitors represents a viable therapeutic strategy 5. Additionally, TOP1 inhibition suppresses lethal SARS-CoV-2-induced inflammation, suggesting repurposing potential 6. Genomic ribonucleotides cleaved by TOP1 generate PARP-trapping lesions relevant to PARP inhibitor sensitivity 7.

Sources cited
1
TOP1 is an essential human enzyme and the sole known target of camptothecins, from which anticancer agents irinotecan and topotecan are derived
PMID: 16990856
2
TOP1 directly binds RNA in vitro and in cells, with RNA inhibiting TOP1 activity during RNAPII-dependent transcription
PMID: 39173639
3
Exatecan shows stronger TOP1 trapping and higher DNA damage than classical TOP1 inhibitors; SLFN11 expression and HR deficiency are predictive biomarkers for response
PMID: 35439320
4
TOP1 mutations (S57C, R364H, W401C, G359E) arise in 12.9% of ADC-treated metastatic breast cancer patients at disease progression and mediate cross-resistance to sequential ADCs
PMID: 39745368
5
Sequential dosing of TOP1 inhibitor-ADC sacituzumab govitecan followed by PARP inhibitor talazoparib is clinically feasible with improved safety and efficacy
PMID: 38709212
6
TOP1 inhibition with topotecan suppresses SARS-CoV-2-induced inflammation and reduces mortality in mouse models, supporting repurposing as host-directed therapy
PMID: 33836156
7
Genomic ribonucleotides cleaved by TOP1 generate PARP-trapping lesions; ribonuclease H2 deficiency impairs ribonucleotide excision repair and sensitizes cells to PARP inhibitors
PMID: 29973717
Disease Associationsⓘ20
small cell lung carcinomaOpen Targets
0.65Moderate
neoplasmOpen Targets
0.62Moderate
breast cancerOpen Targets
0.61Moderate
cervical cancerOpen Targets
0.56Moderate
ovarian cancerOpen Targets
0.56Moderate
ovarian neoplasmOpen Targets
0.54Moderate
colorectal cancerOpen Targets
0.54Moderate
breast neoplasmOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.52Moderate
carcinomaOpen Targets
0.51Moderate
pancreatic neoplasmOpen Targets
0.49Moderate
triple-negative breast cancerOpen Targets
0.47Moderate
non-small cell lung carcinomaOpen Targets
0.46Moderate
pancreatic carcinomaOpen Targets
0.46Moderate
HER2 Positive Breast CarcinomaOpen Targets
0.45Moderate
urothelial carcinomaOpen Targets
0.44Moderate
esophageal squamous cell carcinomaOpen Targets
0.43Moderate
cancerOpen Targets
0.43Moderate
colorectal adenocarcinomaOpen Targets
0.43Moderate
lung cancerOpen Targets
0.41Moderate
Pathogenic Variants1
NM_003286.4(TOP1):c.1252G>A (p.Glu418Lys)Pathogenic
DNA topoisomerase I, camptothecin-resistant
☆☆☆☆2002→ Residue 418
View on ClinVar ↗
Drug Targets26
7-ETHYL-10-HYDROXYCAMPTOTHECINPhase II
DNA topoisomerase I inhibitor
lung cancer
9-AMINOCAMPTOTHECINPhase II
DNA topoisomerase I inhibitor
AIDS
AFELETECANPhase I
DNA topoisomerase I stabiliser
breast cancer
AR-67Phase II
DNA topoisomerase I inhibitor
glioblastoma multiforme
BECATECARINPhase III
DNA topoisomerase I inhibitor
BELOTECANApproved
DNA topoisomerase I inhibitor
neoplasm
CAMPTOTHECIN-20-O-PROPIONATEPhase II
DNA topoisomerase I inhibitor
small cell lung carcinoma
DATOPOTAMAB DERUXTECANApproved
DNA topoisomerase I inhibitor
breast cancer
DIFLOMOTECANPhase II
DNA topoisomerase I inhibitor
EDOTECARINPhase III
DNA topoisomerase I inhibitor
gastric adenocarcinoma
ETIRINOTECAN PEGOLApproved
DNA topoisomerase I inhibitor
neoplasm
EXATECANPhase III
DNA topoisomerase I inhibitor
GIMATECANPhase II
DNA topoisomerase I inhibitor
breast cancer
IRINOTECANApproved
DNA topoisomerase I inhibitor
colorectal cancer
IRINOTECAN HYDROCHLORIDEApproved
DNA topoisomerase I inhibitor
IRINOTECAN SUCROSOFATEPhase III
DNA topoisomerase I inhibitor
Malignant Pancreatic Neoplasm
KARENITECINPhase III
DNA topoisomerase I inhibitor
lung cancer
LABETUZUMAB GOVITECANPhase II
Carcinoembryonic antigen-related cell adhesion molecule 5 binding agent
colorectal cancer
MURELETECANPhase I
DNA topoisomerase I inhibitor
neoplasm
PATRITUMAB DERUXTECANApproved
Receptor tyrosine-protein kinase erbB-3 binding agent
neoplasm
RUBITECANPhase III
DNA topoisomerase I inhibitor
HIV infection
SACITUZUMAB GOVITECANApproved
Tumor-associated calcium signal transducer 2 binding agent
breast cancer
TLC-388Phase II
DNA topoisomerase I inhibitor
TOPOTECANApproved
DNA topoisomerase I inhibitor
ovarian cancer
TOPOTECAN HYDROCHLORIDEApproved
DNA topoisomerase I inhibitor
TRASTUZUMAB DERUXTECANApproved
Receptor protein-tyrosine kinase erbB-2 binding agent
Related Genes
CDC5LProtein interaction100%ATMProtein interaction100%BRCA1Protein interaction100%CDKN2AProtein interaction100%XRCC5Protein interaction100%CHEK1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
53%
Lung
53%
Liver
36%
Ovary
30%
Heart
23%
Gene Interaction Network
Click a node to explore
TOP1CDC5LATMBRCA1CDKN2AXRCC5CHEK1
PROTEIN STRUCTURE
Preparing viewer…
PDB1A31 · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.12Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.05 [0.03–0.12]
RankingsWhere TOP1 stands among ~20K protein-coding genes
  • #487of 20,598
    Most Researched528 · top 5%
  • #148of 1,025
    FDA-Approved Drug Targets10 · top quartile
  • #4,618of 5,498
    Most Pathogenic Variants1
  • #112of 17,882
    Most Constrained (LOEUF)0.12 · top 1%
Genes detectedTOP1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Topoisomerase I inhibitors: camptothecins and beyond.
PMID: 16990856
Nat Rev Cancer · 2006
1.00
2
TOP1-DNA Trapping by Exatecan and Combination Therapy with ATR Inhibitor.
PMID: 35439320
Mol Cancer Ther · 2022
0.90
3
Targeting neddylation sensitizes colorectal cancer to topoisomerase I inhibitors by inactivating the DCAF13-CRL4 ubiquitin ligase complex.
PMID: 37353483
Nat Commun · 2023
0.82
4
TDP1 suppresses chromosomal translocations and cell death induced by abortive TOP1 activity during gene transcription.
PMID: 37945566
Nat Commun · 2023
0.80
5
MYC assembles and stimulates topoisomerases 1 and 2 in a "topoisome".
PMID: 34890565
Mol Cell · 2022
0.80