HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TOPBP1
DNA topoisomerase II binding protein 1
Chromosome 3 · 3q22.1
NCBI Gene: 11073Ensembl: ENSG00000163781.14HGNC: HGNC:17008UniProt: A0A2R8YD63
216PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHomologous RecombinationHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingprotein serine/threonine kinase activator activityphosphorylation-dependent protein bindingAbnormality of the skeletal systemalcohol drinkingbreast cancercancer
✦AI Summary

TOPBP1 (DNA topoisomerase II binding protein 1) is a scaffold protein that serves as a critical adapter in DNA replication initiation and DNA repair processes 1. The protein contains multiple BRCT domains that recognize and bind phosphorylated proteins, enabling it to bring together functional protein combinations during DNA damage responses 2. TOPBP1 plays essential roles in multiple DNA repair pathways: it facilitates homologous recombination by promoting RAD51 loading and RPA displacement during S-phase 3, and activates microhomology-mediated end-joining (MMEJ) repair during mitosis by recruiting PLK1-phosphorylated polymerase theta (POLQ) to DNA damage sites 2. The protein is crucial for replication initiation, being required for loading replication factors including CDC45 and GINS complex components onto chr3 4. In mitosis, TOPBP1 forms complexes with CIP2A to maintain chr3 stability by tethering broken chr3 and preventing mis-segregation of acentric chromosome 3 15. TOPBP1 also activates ATR kinase signaling and checkpoint responses to DNA damage 6. Clinically, the CIP2A-TOPBP1 axis represents a synthetic lethal target for BRCA-mutated cancers, as these cells depend on this complex for survival when homologous recombination is deficient 1. The protein's multifaceted roles make it central to genome stability maintenance across different cell cycle phases.

Sources cited
1
TOPBP1 is a scaffold protein and forms complexes with CIP2A that are synthetic lethal targets for BRCA-mutated cancers
PMID: 35121901
2
TOPBP1 recruits PLK1-phosphorylated POLQ to repair mitotic DSBs via MMEJ pathway
PMID: 37674080
3
TOPBP1 is required for replication initiation and loading of replication factors including GINS complex
PMID: 37590370
4
TOPBP1 cooperates with NRF2 to activate ATR-CHK1 signaling pathway
PMID: 38169561
5
CIP2A-TOPBP1 complex maintains chromosomal stability during mitosis by tethering broken chromosomes
PMID: 35842428
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.44Moderate
alcohol drinkingOpen Targets
0.28Weak
breast cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
breast neoplasmOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
endometrial cancerOpen Targets
0.03Suggestive
blood vessel replacementOpen Targets
0.03Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
preeclampsiaOpen Targets
0.02Suggestive
pathological myopiaOpen Targets
0.02Suggestive
cervical cancerOpen Targets
0.02Suggestive
teratomaOpen Targets
0.02Suggestive
hyperaldosteronismOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BARD1Protein interaction100%BRCA1Protein interaction100%GINS4Protein interaction100%GINS3Protein interaction100%TP53Protein interaction100%RMI1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
36%
Heart
20%
Lung
19%
Ovary
17%
Liver
14%
Gene Interaction Network
Click a node to explore
TOPBP1BARD1BRCA1GINS4GINS3TP53RMI1
PROTEIN STRUCTURE
Preparing viewer…
PDB3PD7 · 1.26 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.12–0.23]
RankingsWhere TOPBP1 stands among ~20K protein-coding genes
  • #1,925of 20,598
    Most Researched216 · top 10%
  • #602of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedTOPBP1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
The CIP2A-TOPBP1 axis safeguards chromosome stability and is a synthetic lethal target for BRCA-mutated cancer.
PMID: 35121901
Nat Cancer · 2021
1.00
2
ADAR1 links R-loop homeostasis to ATR activation in replication stress response.
PMID: 37831098
Nucleic Acids Res · 2023
0.90
3
In silico protein interaction screening uncovers DONSON's role in replication initiation.
PMID: 37590370
Science · 2023
0.80
4
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
PMID: 37422716
Genet Med · 2023
0.70
5
Long non-coding RNA NEAT1 mediated RPRD1B stability facilitates fatty acid metabolism and lymph node metastasis via c-Jun/c-Fos/SREBP1 axis in gastric cancer.
PMID: 36171622
J Exp Clin Cancer Res · 2022
0.64