Aliases for EPS15 Gene
External Ids for EPS15 Gene
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
GeneCards Summary for EPS15 Gene
EPS15 (Epidermal Growth Factor Receptor Pathway Substrate 15) is a Protein Coding gene. Diseases associated with EPS15 include troyer syndrome. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is EHD1.
UniProtKB/Swiss-Prot for EPS15 Gene
Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.