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. Among its related pathways are HIV Life Cycle and Formation of HIV-1 elongation complex containing HIV-1 Tat. 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 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.