ESCO1

Chr 18

establishment of sister chromatid cohesion N-acetyltransferase 1

Also known as: A930014I12Rik, CTF, ECO1, EFO1, ESO1

NCBI Gene: 114799 ENSG00000141446 UniProt: Q5FWF5

The ESCO1 protein is an acetyltransferase that establishes sister chromatid cohesion during DNA replication by acetylating the cohesin component SMC3. Mutations cause Roberts syndrome, a rare autosomal recessive disorder characterized by severe growth retardation, limb malformations, and craniofacial abnormalities. The gene is highly constrained against loss-of-function variation, indicating its critical role in cellular function.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity; protein-lysine-acetyltransferase activity; and zinc ion binding activity. Involved in peptidyl-lysine acetylation; post-translational protein acetylation; and regulation of DNA replication. Located in chromatin. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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