ESCO1: Establishment of Sister Chromatid Cohesion N-Acetyltransferase 1
A key regulator of sister chromatid cohesion and genome stability
Gene Information Card
| Symbol | ESCO1 |
|---|---|
| Full Name | Establishment of Sister Chromatid Cohesion N-Acetyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 114299 ncbi.nlm.nih.gov/gene/114299 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | Q5FWF5 |
| OMIM ID | 609674 |
| HGNC ID | 24690 |
| Aliases | ECO1, EFO1, ESCO1L, hECO1 |
Description
ESCO1 encodes a member of the Eco1 family of acetyltransferases that is essential for the establishment of sister chromatid cohesion during S phase. The protein acetylates the cohesin complex subunit SMC3, promoting stable cohesion between replicated chromatids. ESCO1 activity is critical for proper chromosome segregation, DNA repair, and genome stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered ESCO1 expression may disrupt cohesion and promote chromosomal instability | PMID: 23431136 |
| Breast cancer | ESCO1 overexpression correlates with poor prognosis and genomic instability | PMID: 26030138 |
| Cornelia de Lange syndrome (CdLS)-like phenotype | ESCO1 mutations impair cohesin acetylation and chromatin looping | PMID: 28119487 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Medium |
| Bone marrow | 7.1 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| K562 | 7.5 | Leukemia cell line |
| MCF7 | 6.2 | Breast cancer cell line |
| HepG2 | 5.1 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1582C>T (p.Arg528Trp) | Missense | Rare | Reduced acetyltransferase activity |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Impaired SMC3 binding |
| c.1966_1967del (p.Lys656Glufs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the acetyltransferase domain lead to loss of SMC3 acetylation and cohesion defects.
Gain of Function (GOF)
Not reported for ESCO1.
Dominant Negative (DN)
Missense mutations in the catalytic domain may interfere with wild-type ESCO1 function, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sister chromatid cohesion (Reactome: R-HSA-2467813)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• Chromosome maintenance (KEGG: hsa04110)
Protein Summary
ESCO1 is a nuclear acetyltransferase that specifically acetylates lysine residues on the cohesin subunit SMC3. This acetylation is required for the establishment of sister chromatid cohesion during DNA replication. The protein contains a C2H2-type zinc finger and an acetyltransferase domain. ESCO1 interacts with the replication fork and is regulated by cell cycle-dependent phosphorylation. Loss of ESCO1 function leads to premature sister chromatid separation and genomic instability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESCO1 Knockout HEK293 Cell Line | EDJ-KQ7471 | Human | 114799 | Details Get a Quote |
| ESCO1 Knockout A-549 Cell Line | EDJ-KQ32692 | Human | 114799 | Details Get a Quote |
| ESCO1 Knockout HCT 116 Cell Line | EDJ-KQ32693 | Human | 114799 | Details Get a Quote |
| ESCO1 Knockout HeLa Cell Line | EDJ-KQ32694 | Human | 114799 | Details Get a Quote |
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