EPS15

Epidermal growth factor receptor substrate 15 is a protein that in humans is encoded by the EPS15 gene.^[5]

EPS15
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1C07, 1EH2, 1F8H, 1FF1, 2IV9, 2JXC, 4RH5, 4RH9, 4RHG, 4S0G, 5JP2
Identifiers
Aliases	EPS15, AF-1P, AF1P, MLLT5, epidermal growth factor receptor pathway substrate 15
External IDs	OMIM: 600051; MGI: 104583; HomoloGene: 128359; GeneCards: EPS15; OMA:EPS15 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p32.3 Start 51,354,263 bp[1] End 51,519,266 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 C7 Start 109,137,465 bp[2] End 109,245,014 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell sperm internal globus pallidus frontal pole Brodmann area 23 middle temporal gyrus pars compacta lateral nuclear group of thalamus corpus callosum Pons Top expressed in Region I of hippocampus proper substantia nigra cingulate gyrus sciatic nerve ventral tegmental area deep cerebellar nuclei lateral geniculate nucleus cerebellar vermis pontine nuclei lobe of cerebellum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding SH3 domain binding metal ion binding polyubiquitin modification-dependent protein binding protein binding cadherin binding identical protein binding cargo receptor activity Cellular component endosome clathrin coat of coated pit early endosome membrane membrane intracellular membrane-bounded organelle plasma membrane aggresome ciliary membrane clathrin-coated pit AP-2 adaptor complex clathrin-coated vesicle basal plasma membrane apical plasma membrane early endosome cytoplasm cytosol synapse postsynapse glutamatergic synapse Biological process negative regulation of epidermal growth factor receptor signaling pathway endocytosis epidermal growth factor receptor signaling pathway vesicle organization Golgi to endosome transport clathrin coat assembly protein transport viral entry into host cell receptor-mediated endocytosis of virus by host cell cell population proliferation positive regulation of receptor recycling regulation of cell population proliferation endocytic recycling membrane organization viral process transport postsynaptic neurotransmitter receptor internalization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2060 13858 Ensembl ENSG00000085832 ENSMUSG00000028552 UniProt P42566 P42567 RefSeq (mRNA) NM_001159969 NM_001981 NM_001159964 NM_007943 RefSeq (protein) NP_001153441 NP_001972 NP_001153436 NP_031969 Location (UCSC) Chr 1: 51.35 – 51.52 Mb Chr 4: 109.14 – 109.25 Mb PubMed search [3] [4]
Wikidata
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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.^[6]

Interactions

EPS15 has been shown to interact with:

• CRK^[7]
• EPN1,^[8]
• HGS,^[9][10]
• HRB,^[11] and
• REPS2.^[12]