endophilin-A3; EEN-B2; endophilin-3; SH3 domain protein 2C; SH3 domain-containing GRB2-like protein 3 (SH3GL3, CNSA3, SH3D2C)

Function

• implicated in endocytosis
• may recruit other proteins to membranes with high curvature (putative)
• interacts with ARC (putative)
• interacts with DNM1, SGIP1 & SYNJ1
• interacts with DYDC1

Structure

• an N-terminal amphipathic helix, the BAR domain & a 2nd amphipathic helix inserted into helix 1 of the 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 (putative)
• associated with postsynaptic endosomes in hippocampal neurons
• associated with presynaptic endosomes in olfactory neurons (putative)

Alternative splicing

named isoforms=4

Expression

brain & testis

Pathology

• interacts with the huntingtin exon 1 protein (HDEX1P) containing a glutamine repeat in the pathological range & promotes formation of insoluble polyglutamine-containing aggregates in vivo

More general terms

• SH3-containing GRB2-like protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6457
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6457
• OMIM: https://mirror.omim.org/entry/603362
• UniProt: http://www.uniprot.org/uniprot/Q99963.html