EPS15

Epidermal growth factor receptor substrate 15 is a is_associated_with::protein that in humans is encoded by the EPS15 is_associated_with::gene.

Function
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clathrin-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. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.

Model organisms
is_associated_with::Model organisms have been used in the study of EPS15 function. A conditional is_associated_with::knockout mouse line, called Eps15tm1a(KOMP)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the is_associated_with::Wellcome Trust Sanger Institute.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on is_associated_with::mutant mice and one significant abnormality was observed: is_associated_with::homozygous mutant animals had a decreased mean corpuscular is_associated_with::hemoglobin concentration.

Interactions
EPS15 has been shown to interact with:
 * CRK
 * is_associated_with::EPN1,
 * HGS,
 * HRB, and
 * is_associated_with::REPS2.