Aliases for EPS15 Gene
External Ids for EPS15 Gene
Previous GeneCards Identifiers 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 Vaccinia and Spastic Paraplegia 20, Autosomal Recessive. Among its related pathways are EGF/EGFR Signaling Pathway and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Gene Ontology (GO) annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is EPS15L1.
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.