| Full Name | Establishment of Sister Chromatid Cohesion N-Acetyltransferase 1 |
|---|---|
| Symbol | ESCO1 |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | [54970](https://www.ncbi.nlm.nih.gov/gene/54970) |
| OMIM | [609673](https://omim.org/entry/609673) |
| Ensembl ID | [ENSG00000131931](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000131931) |
| UniProt | [Q5F2C3](https://www.uniprot.org/uniprot/Q5F2C3) |
| Associated Diseases | [Bladder Cancer](/bladder-cancer), [Acute Myeloid Leukemia](/acute-myeloid-leukemia), [Cohesinopathy](/cohesinopathy) |
ESCO1 (Establishment of Sister Chromatid Cohesion N-Acetyltransferase 1) is a lysine acetyltransferase that modifies the SMC3 subunit of the cohesin complex, a critical step in establishing sister chromatid cohesion during DNA replication. Together with its paralog ESCO2, ESCO1 regulates chromosome segregation, DNA repair, and gene expression programs essential for genomic stability and cellular function[1].
ESCO1 catalyzes the acetylation of two evolutionarily conserved lysine residues on SMC3 (K105 and K106 in humans), which:
ESCO1 and ESCO2 have partially redundant but distinct roles:
ESCO1 contributes to genome maintenance by:
Beyond cohesion, ESCO1-mediated acetylation influences:
ESCO1 alterations occur in several malignancies:
Bladder Cancer: ESCO1 mutations and downregulation correlate with:
Acute Myeloid Leukemia (AML): Cohesin pathway mutations, including ESCO1, contribute to:
Glioblastoma: ESCO1 dysregulation may contribute to:
While ESCO2 mutations cause Roberts syndrome, ESCO1 variants have been implicated in:
ESCO1 shows ubiquitous expression with relative enrichment in:
Moderate expression throughout the brain, with slightly higher levels in:
ESCO1 and cohesin represent potential therapeutic targets:
Targeting ESCO1-mediated cohesion could exploit:
Rolef Ben-Shahar T, et al. Eco1-dependent cohesin acetylation during establishment of sister chromatid cohesion. Science. 2008. ↩︎
Unal E, et al. A molecular determinant for the establishment of sister chromatid cohesion. Science. 2008. ↩︎
Alomer RM, et al. Esco1 and Esco2 regulate distinct cohesin functions during cell cycle progression. Proceedings of the National Academy of Sciences USA. 2017. ↩︎
Watrin E, Peters JM. The cohesin complex is required for the DNA damage-induced G2/M checkpoint. Molecular Cell. 2006. ↩︎
Merkenschlager M, Odom DT. CTCF and cohesin: linking gene regulatory elements with disease genes. Cell. 2013. ↩︎
Rieger C, et al. Somatic mutations of ESCO1 and ESCO2 genes in bladder cancer. Scientific Reports. 2019. ↩︎
Kon A, et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nature Genetics. 2013. ↩︎
Zhang J, et al. ESCO1 and ESCO2 play overlapping and distinct roles in sister chromatid cohesion. Cell Reports. 2019. ↩︎
Mondal G, et al. Functional consequences of mutations in the cohesin acetyltransferase ESCO1 in cancer. Cell Reports. 2020. ↩︎