Entrez 2060 | Ensembl ENSG00000085832 | |
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Aliases EPS15, AF-1P, AF1P, MLLT5, epidermal growth factor receptor pathway substrate 15 External IDs MGI: 104583 HomoloGene: 128359 GeneCards: EPS15 | ||
Epidermal growth factor receptor substrate 15 is a protein that in humans is encoded by the EPS15 gene.
Contents
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
Model organisms have been used in the study of EPS15 function. A conditional knockout mouse line, called Eps15tm1a(KOMP)Wtsi was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on mutant mice and one significant abnormality was observed: homozygous mutant animals had a decreased mean corpuscular hemoglobin concentration.
Interactions
EPS15 has been shown to interact with: