EPS15

Description

The EPS15 (epidermal growth factor receptor pathway substrate 15) is a protein-coding gene located on chromosome 1.

EPS15 is a protein encoded by the EPS15 gene in humans. It plays a role in the EGFR pathway and is involved in receptor-mediated endocytosis of EGF. EPS15 is found at clathrin-coated pits. This gene is often rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. EPS15 interacts with several proteins, including CRK, EPN1, HGS, HRB, and REPS2.

EPS15 is involved in the regulation of cell growth, potentially controlling cell proliferation and mitogenic signaling. It plays a crucial role in the internalization of ligand-inducible receptors, particularly the epidermal growth factor receptor (EGFR), belonging to the receptor tyrosine kinase (RTK) family. EPS15 is essential for the assembly of clathrin-coated pits (CCPs) and acts as a clathrin adapter during post-Golgi trafficking. It contributes to the maturation of CCPs, including invagination and budding. EPS15 is involved in the endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR), but only the internalization of ITGB1, not TFR, seems to require its association with DAB2.

EPS15 is also known as AF-1P, AF1P, MLLT5.

Associated Diseases

WES Whole Exome Sequencing