ESRP1

Chr 8q22.1

epithelial splicing regulatory protein 1

Aliases:: FLJ20171
MANE:: ENST00000433389.8

OMIM: 612959 ↗NCBI: 54845 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ESRP1 · Q6NXG1

v62025-08-01

Predicted Aligned Error matrix for ESRP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.6/ 100

Confident

681 residues

Confidence breakdown

Very high(≥ 90)51%
Confident(70–90)24%
Low(50–70)5%
Very low(< 50)20%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cancer
0.57
neurodegenerative disease
0.52
hearing loss, autosomal recessive
0.47
placenta praevia
0.24
multinodular goiter
0.23
preeclampsia
0.23
protozoa infectious disease
0.21
obesity disorder
0.20
overnutrition
0.20
diabetes mellitus
0.15

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Epithelial splicing regulatory protein 1

mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2 (PubMed:19285943). Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium (By similarity)