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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
Chromosome 14 · 14q11.2
NCBI Gene: 328Ensembl: ENSG00000100823.13HGNC: HGNC:587UniProt: P27695
744PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub GeneTranscription Factor
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
telomere maintenance via base-excision repairdamaged DNA bindingdouble-stranded telomeric DNA bindingtranscription coactivator activity
✦AI Summary

APEX1 is a multifunctional 36.5 kDa protein encoded on chromosome 14 that serves as a central mediator of cellular responses to oxidative stress 1. Its primary function involves DNA repair through the base excision repair (BER) pathway, where it acts as an apurinic/apyrimidinic endonuclease that catalyzes hydrolytic incision of the phosphodiester backbone adjacent to AP sites, generating single-strand breaks with appropriate 3' and 5' ends for downstream repair 2. APEX1 possesses 3'-5' exonuclease and 3' phosphodiesterase activities essential for short-patch BER completion. Beyond DNA repair, APEX1 exerts reversible nuclear redox activity to regulate transcriptional factor DNA-binding affinity through controlled reduction of their DNA-binding domains 1. Clinically, APEX1 expression correlates with cancer progression and treatment resistance. APEX1 gene amplification and overexpression in osteosarcoma independently predicted disease-free survival and metastatic risk 3. In ulcerative colitis, APEX1 expression in intestinal epithelium drives neutrophil infiltration and barrier dysfunction through NF-κB-dependent CXCL1 production; APEX1 inhibition reduced inflammatory severity 4. APEX1 polymorphisms show population-specific associations with cancer susceptibility, with certain variants offering protective effects in breast cancer 5. Targeting APEX1's redox activity represents a promising therapeutic strategy for both cancer and inflammatory disorders.

Sources cited
1
APEX1 is a 36.5 kDa ubiquitously expressed multifunctional protein on chromosome 14 involved in DNA repair and transcriptional regulation with redox-based mechanisms
PMID: 11084372
2
APEX1 functions as part of the base excision repair pathway removing DNA damage caused by ionizing radiation and reactive oxidative species
PMID: 24893568
3
APEX1 gene amplification and overexpression in osteosarcoma independently predicts local recurrence, metastasis, and disease-free survival
PMID: 20218738
4
APEX1 expression in intestinal epithelium drives neutrophil infiltration and intestinal barrier damage in ulcerative colitis through NF-κB-dependent CXCL1 production; APEX1 inhibition reduces colitis severity
PMID: 39389211
5
APEX1 rs3136817 polymorphisms show association with breast cancer risk, with certain genotypes conferring protective effects
PMID: 29720094
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
XRCC1Protein interaction100%POLBProtein interaction100%FEN1Protein interaction100%NTHL1Protein interaction99%OGG1Protein interaction99%TXNProtein interaction98%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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APEX1XRCC1POLBFEN1NTHL1OGG1TXN
PROTEIN STRUCTURE
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PDB7TC3 · 1.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.69–1.23]
RankingsWhere APEX1 stands among ~20K protein-coding genes
  • #278of 20,598
    Most Researched744 · top 5%
  • #12,903of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedAPEX1
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Selective autophagy.
PMID: 34407274
Cancer Sci · 2021
1.00
2
TRIM5alpha.
PMID: 20012523
Curr Top Microbiol Immunol · 2009
0.90
3
APEX1 attenuates ERS-induced paraptosis by inhibiting the P53 pathway in LECs.
PMID: 40254119
Exp Eye Res · 2025
0.82
4
APEX1/miR-24 axis: a promising therapeutic target in endometriosis.
PMID: 33502561
Arch Gynecol Obstet · 2021
0.80
5
Association between the OGG1 Ser326Cys and APEX1 Asp148Glu polymorphisms and lung cancer risk: a meta-analysis.
PMID: 23065211
Mol Biol Rep · 2012
0.80