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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ESPL1
extra spindle pole bodies like 1, separase
Chromosome 12 · 12q13.13
NCBI Gene: 9700Ensembl: ENSG00000135476.13HGNC: HGNC:16856UniProt: Q14674
96PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneProtease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmmitotic sister chromatid segregationprotein bindingcentrosomeneoplasmbreast cancerhepatocellular carcinomacancer
✦AI Summary

ESPL1 (separase) is a caspase-like protease that functions as a central regulator of chromosome 12 by cleaving the SCC1/RAD21 cohesin subunit at anaphase onset, enabling sister chr12 separation during mitosis and meiosis. Beyond its canonical role in cell cycle regulation, ESPL1 has emerged as an oncogene across multiple cancer types. ESPL1 is transcriptionally regulated by circadian clock gene PER2 through HIF-1α-mediated enhancement in pituitary adenomas, where elevated expression promotes cell cycle progression and inhibits apoptosis 1. In hepatocellular carcinoma, HBV S-integrated ESPL1 fusion genes are detected in 66.7% of HBV-related HCC cases versus 0% in controls, suggesting biomarker potential 2. ESPL1 overexpression correlates with poor prognosis across lung cancer, endometrial cancer, and prostate adenocarcinoma, with high expression associated with advanced disease features and reduced survival 345. Mechanistically, ESPL1 promotes tumor cell proliferation, migration, and invasion while suppressing apoptosis; let-7c-5p microRNA restrains these oncogenic functions by targeting ESPL1 6. Pan-cancer analysis confirms ESPL1's tumor-promoting effects involve cell division and DNA repair pathways 7. In bladder cancer, PAX2-mediated ESPL1 upregulation activates JAK2/STAT3 signaling to confer cisplatin resistance 8. These findings identify ESPL1 as a prognostic biomarker and therapeutic target across human malignancies.

Sources cited
1
PER2 induces ESPL1 expression through HIF-1α in pituitary adenomas to facilitate cell cycle progression
PMID: 37215573
2
HBV S-integrated ESPL1 fusion gene detected in 66.7% of HBV-related HCC cases versus 0% in controls
PMID: 31892573
3
ESPL1 overexpression associates with poor overall and progression-free survival in lung cancer
PMID: 36359523
4
ESPL1 upregulation in endometrial cancer correlates with advanced clinical characteristics and poor prognosis
PMID: 38568742
5
High ESPL1 expression in prostate adenocarcinoma correlates with advanced disease and reduced survival
PMID: 41015743
6
Let-7c-5p restrains LUAD progression by targeting ESPL1 to suppress proliferation, migration, and promote apoptosis
PMID: 35639278
7
Pan-cancer analysis shows ESPL1 upregulation associates with poor prognosis and involves cell division/DNA repair pathways
PMID: 37006282
8
PAX2-mediated ESPL1 upregulation activates JAK2/STAT3 pathway to confer cisplatin resistance in bladder cancer
PMID: 38573552
Disease Associationsⓘ20
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
lymphomaOpen Targets
0.07Suggestive
myelodysplastic syndromeOpen Targets
0.06Suggestive
chronic myelogenous leukemiaOpen Targets
0.06Suggestive
central nervous system cancerOpen Targets
0.05Suggestive
osteoporosisOpen Targets
0.05Suggestive
breast carcinomaOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.03Suggestive
benign neoplasmOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
hepatitis B virus infectionOpen Targets
0.03Suggestive
triple-negative breast cancerOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.03Suggestive
chronic hepatitis B virus infectionOpen Targets
0.03Suggestive
carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CKS1BProtein interaction100%CDC23Protein interaction100%PDS5AProtein interaction100%CDC20Protein interaction100%ANAPC10Protein interaction100%ANAPC11Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
21%
Liver
8%
Lung
5%
Ovary
1%
Heart
1%
Gene Interaction Network
Click a node to explore
ESPL1CKS1BCDC23PDS5ACDC20ANAPC10ANAPC11
PROTEIN STRUCTURE
Preparing viewer…
PDB9HN0 · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.29Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.18–0.29]
RankingsWhere ESPL1 stands among ~20K protein-coding genes
  • #4,978of 20,598
    Most Researched96 · top quartile
  • #1,078of 17,882
    Most Constrained (LOEUF)0.29 · top 10%
Genes detectedESPL1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PER2 integrates circadian disruption and pituitary tumorigenesis.
PMID: 37215573
Theranostics · 2023
1.00
2
High Rate of Detection of Human ESPL1-HBV S Fusion Gene in Patients With HBV-related Liver Cancer: A Chinese Case-Control Study.
PMID: 31892573
Anticancer Res · 2020
0.90
3
Association of the Timeless Gene with Prognosis and Clinical Characteristics of Human Lung Cancer.
PMID: 36359523
Diagnostics (Basel) · 2022
0.80
4
Upregulation of ESPL1 is associated with poor prognostic outcomes in endometrial cancer.
PMID: 38568742
Biomarkers · 2024
0.70
5
Exploring the tumor-promoting function and prognostic value of ESPL1 in prostate adenocarcinoma.
PMID: 41015743
Urol Oncol · 2026
0.60