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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
General
anti-oncoprotein (tumor suppressor protein)
phosphoprotein
protein subunit
Properties
SIZE: entity length = 593 aa
MW = 65 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: BIN2 interaction {1-122}
MOTIF: coiled coil {15-42}
BAR {29-276}
MOTIF: coiled coil {193-267}
Ser phosphorylation site {S296}
Ser phosphorylation site {S298}
Ser phosphorylation site {S303}
Thr phosphorylation site {T307}
Thr phosphorylation site {T323}
Ser phosphorylation site {S331}
binding site
SITE: 378-421
FOR-BINDING-OF: clathrin
src homology 3 [SH3] domain
SITE: 520-592
Database Correlations
OMIM correlations
MORBIDMAP 601248
UniProt O00499
PFAM correlations
Entrez Gene 274
Kegg hsa:274
References
- UniProt :accession O00499
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/BIN1ID794ch2q14.html