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endophilin-A2; EEN fusion partner of MLL; endophilin-2; extra eleven-nineteen leukemia fusion gene protein; EEN; SH3 domain protein 2B; SH3 domain-containing GRB2-like protein 1 (SH3GL1, CNSA1 SH3D2B)
Function:
- implicated in endocytosis
- may recruit other proteins to membranes with high curvature (putative)
- interacts with ARC (putative)
- interacts with SYNJ1 & DNM1
- interacts with PDCD6IP
Structure:
- an N-terminal amphipathic helix, the BAR domain & a 2nd amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature & bind curved membranes
- belongs to the endophilin family
- contains 1 BAR domain
- contains 1 SH3 domain
Compartment:
- cytoplasm (putative)
- early endosome membrane
- peripheral membrane
- associated with postsynaptic endosomes in hippocampal neurons
Expression:
- ubiquitous
- high expression in pancreas, placenta, prostate, testis & uterus
Pathology:
- in some cases of acute leukemia, a translocation results in formation of a MLL-EEN fusion gene
General
phosphoprotein
SH3-containing GRB2-like protein
Properties
SIZE: entity length = 368 aa
MW = 41 kD
COMPARTMENT: cytoplasm
MOTIF: binding site
SITE: 1-21
FOR-BINDING-OF: membrane
MOTIF: breakpoint {15-16}
BAR {18-249}
MOTIF: dimerization {60-87}
coiled coil {145-250}
ARC interaction {218-254}
Ser phosphorylation site {S287}
Ser phosphorylation site {S288}
src homology 3 [SH3] domain
SITE: 306-365
Database Correlations
OMIM 601768
UniProt Q99961
PFAM correlations
Entrez Gene 6455
Kegg hsa:6455
References
- UniProt :accession Q99961
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/EEN.html