ESRP1
Function
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).
Involvement in disease
Deafness, autosomal recessive, 109
DFNB109
A form of non-syndromic, sensorineural deafness characterized by bilateral, congenital, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB109 affected individuals additionally exhibit vestibular dysplasia, although they do not manifest problems with balance or movement.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ESRP family.
Tissue Specificity
Epithelial cell-specific.
Cellular localization
- Nucleus
Alternative names
RBM35A, ESRP1, Epithelial splicing regulatory protein 1, RNA-binding motif protein 35A, RNA-binding protein 35A