ESRP1
Description
The ESRP1 (epithelial splicing regulatory protein 1) is a protein-coding gene located on chromosome 8.
ESRP1 is a crucial mRNA splicing factor that plays a significant role in shaping the identity of epithelial cells. It specifically regulates the production of epithelial cell-specific isoforms, including FGFR2-IIIb, a key player in epithelial cell development. Additionally, ESRP1 influences the splicing of several transcripts like CD44, CTNND1, and ENAH, which undergo alterations during epithelial-to-mesenchymal transition (EMT), a process involved in tissue remodeling and development. ESRP1 achieves its function by directly binding to specific sequences within mRNA molecules. It specifically binds to GU-rich motifs located within the ISE/ISS-3 region of the FGFR2 mRNA, a regulatory region that controls its expression. Moreover, ESRP1 is involved in regulating the splicing and expression of genes critical for inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium.
ESRP1 is also known as DFNB109, RBM35A, RMB35A.
