Aliases for EPS15L1 Gene
External Ids for EPS15L1 Gene
Previous GeneCards Identifiers for EPS15L1 Gene
GeneCards Summary for EPS15L1 Gene
EPS15L1 (Epidermal Growth Factor Receptor Pathway Substrate 15 Like 1) is a Protein Coding gene. Diseases associated with EPS15L1 include Isolated Split Hand-Split Foot Malformation and Split-Hand/Foot Malformation 6. Among its related pathways are RET signaling and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EPS15.
UniProtKB/Swiss-Prot Summary for EPS15L1 Gene
Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. 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.