Myc box-dependent-interacting protein 1; amphiphysin II; amphiphysin-like protein; box-dependent myc-interacting protein 1; bridging integrator 1 (BIN1, AMPHL)

Function

• regulation of synaptic vesicle endocytosis (putative)
• may act as a tumor suppressor
• inhibits malignant cell transformation
• phosphorylated by protein kinase C (putative)
• heterodimer with amphiphysin(AMPH)
• binds SH3GLB1 (putative)
• interacts (via SH3 domain) with SYNJ1
• interacts (via SH3 domain) with DNM1
• isoform IIA interacts with CLTC
• isoform IIB does not interact with CLTC
• isoform IIC1 does not interact with CLTC
• isoform IIC2 does not interact with CLTC
• interacts with AP2A2
• interacts with AP2B1
• interacts with MYC (via N-terminal transactivation domain);
• interacts with BIN2
• interacts (via SH3 domain) with HCV NS5A

Structure

• contains 1 BAR domain
• contains 1 SH3 domain

Compartment

• isoform BIN1: nucleus
• isoform IIA: cytoplasm

Alternative splicing

• named isoforms=11
• additional isoforms seem to exist

Expression

• ubiquitous
• highest expression in brain & muscle
• isoform IIA is expressed only in the brain where it is concentrated in axon initial segments & nodes of Ranvier
• isoform BIN1 is widely expressed with highest expression in skeletal muscle

Pathology

• defects in BIN1 are the cause of centronuclear myopathy autosomal recessive

More general terms

• anti-oncoprotein (tumor suppressor protein)
• protein subunit
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=274
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:274
• OMIM: https://mirror.omim.org/entry/255200
• OMIM: https://mirror.omim.org/entry/601248
• UniProt: http://www.uniprot.org/uniprot/O00499.html