ESRP1

ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]). [supplied by OMIM, Aug 2009]

Full Name

Epithelial Splicing Regulatory Protein 1

Research Area

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).

Biological Process

mRNA processing Source: UniProtKB-KW
Regulation of inner ear auditory receptor cell fate specification Source: UniProtKB
Regulation of RNA splicing Source: UniProtKB
RNA splicing Source: UniProtKB-KW

Cellular Location

Nucleus

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.