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FLASH GENE

Symbol

EPS15

contributors: mct/npt/pgu - updated : 24-04-2009

HGNC name	epidermal growth factor receptor pathway substrate 15
HGNC id	3419

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed EPS15 25 - 5220 98.5 896 - 2008 18395097

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Lymphoid/Immune lymph node           thymus       highly Reproductive male system testis     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a coiled-coil involved in recruitment downstream of the Met receptor
	DPF domains
	a myosin tail
	three EH domains (EF-Hand domain)
	two UIM (ubiquitin-interacting motif) domains

mono polymer

heteromer , trimer

HOMOLOGY

interspecies

homolog to murine Eps15

Homologene

FAMILY

ezrin/radixin/noesin family

CATEGORY

adaptor , signaling growth factor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
text	recruited to the plasma membrane and becomes both tyrosine-phosphorylated and ubiquitinated
	also present at the trans-Golgi network (TGN)

basic FUNCTION	may be involved in the regulation of mitogenic signals and control of cell proliferation
	involved in the internalization of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR
	likely involved in cell growth regulation
	playing a role in clathrin-coated vesicle formation at the plasma membrane through interactions with other clathrin adaptor proteins such as AP-2 (Chi 2008)
	plays an important role in clathrin-coated vesicle formation not only at the plasma membrane but also at the TGN during the secretory process (Chi 2008)
	may have an important role in synaptic vesicle recycling and regulate recruitment of alpha-Adaptin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	intersectin 2 (ITSN1)
	EGFR substrate
	interacting with STON2
	interact with several components of the endocytic machinery
	intersectin and EPS15 proteins function in the same genetic pathway, and appear to function synergistically with the clathrin-coat-associated sorting protein, Disabled, for viability
	FCHO2 regulates clathrin-mediated endocytosis through its interactions with membranes and EPS15

cell & other

REGULATION

Other

regulation of its recruitment and the diversity and adaptability of endocytic molecules in promoting RTK trafficking

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with HRX (MLL) in myeloid leukemia, with translocation t(1;11)(p32;q23)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

hypomorphic Eps15 mutant in Drosophila shows reversible paralysis and an altered physiology at restrictive temperatures