DISEASES

Disease-gene associations mined from literature

Literature associating ESRP1 and chromophobe renal cell carcinoma

ESRP1 [ENSP00000405738]

Epithelial splicing regulatory protein 1; 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; Belongs to the ESRP family.

Synonyms:  ESRP1,  ESRP1p,  hESRP1,  E5RGE9,  E5RI26 ...

Linkouts:  STRING  Pharos  UniProt  OMIM