Aliases for ESRP1 Gene
External Ids for ESRP1 Gene
Previous HGNC Symbols for ESRP1 Gene
Previous GeneCards Identifiers for ESRP1 Gene
ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
GeneCards Summary for ESRP1 Gene
ESRP1 (Epithelial Splicing Regulatory Protein 1) is a Protein Coding gene. Diseases associated with ESRP1 include Deafness, Autosomal Recessive 109 and Chromophobe Renal Cell Carcinoma. Among its related pathways are Oncogenic MAPK signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and mRNA binding. An important paralog of this gene is ESRP2.
UniProtKB/Swiss-Prot Summary for ESRP1 Gene
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).