Target intelligence / Profile preview

Exonic splicing enhancer motif (ESE)

Target
ESE
Molecular classification
Regulatory DNA sequence element, cis-acting elements, Splicing regulatory elements
01

Overview

An exonic splicing enhancer (ESE) motif is a short, cis-acting DNA/RNA sequence element (typically 6 bases long) located within exons that enhances the accuracy of pre-mRNA splicing. ESEs function as binding sites for SR proteins, which are splicing factors that help recognize splice sites, recruit spliceosomal components, and regulate exon definition and alternative splicing. ESE motifs are not considered therapeutic targets in the traditional sense because they are intrinsic DNA sequences, not proteins or discrete molecular entities that can be directly bound or inhibited by drugs. While mutations in ESEs can lead to disease-causing splicing defects, the motifs themselves serve as biomarkers rather than direct therapeutic targets. The actual therapeutic opportunities in this pathway lie in modulating the SR proteins that bind to ESEs.

Other names
SR protein binding sitesSplicing enhancer sequencesExonic enhancers
02

Biological functions

Enhance the accuracy of pre-mRNA splicingServe as binding sites for serine/arginine-rich (SR) protein family members (splicing factors)Facilitate recognition of weak splice sitesRecruitment of spliceosomal componentsExon definition and inclusionRegulate both constitutive and alternative splicing
03

Disease associations

Mutations or variants affecting ESE sequences can lead to splicing defects that contribute to various diseases.
04

Biomarkers

Biomarkers for understanding disease mechanisms (due to mutations/variants affecting ESE sequences)

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