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FLASH GENE
Symbol BIN1 contributors: mct/pgu - updated : 23-01-2014
HGNC name bridging integrator 1
HGNC id 1052
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal BAR (Bin1, Amphiphysin, Rv167) domain, a specialized domain that is associated with t-tubule development in skeletal muscle and involved in tethering the dihydropyridine receptors (DHPR) to the t-tubule
  • a nuclear localization signal (NLS)
  • two unique sequences (1, 2)
  • a MYC interaction domain (MYC-binding domain MBD), a MYC-independent effector domain (MID) for cancer suppression
  • a C terminal SH3 domain (lacking in the alternative form), mediating interactions with numerous proteins such as synaptojanin and dynamin, important for sarcomeric protein organization in skeletal muscle
  • conjugated PhosphoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Bin1 (95.9pc)
    homolog to rattus Bin1 (95.6pc)
    Homologene
    FAMILY
    CATEGORY adaptor , regulatory , tumor suppressor , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text
  • transverse (T) tubules
  • isoform BIN1 localizes to nucleus, IIA in cytoplasm
  • IIA, only in brain, concentrated in axon initial segments and Nodes of Ranvier
  • basic FUNCTION
  • implicated in membrane tubulation and in protein-lipid and protein-protein interactions
  • inhibiting induction of CDKNA1A in early stage of muscle differentiation program
  • playing a physiological role in striated muscle membrane deformation (for T-tubule biogenesis)
  • may be involved in regulation of synaptic vesicle endocytosis
  • may act as a tumor suppressor and inhibiting malignant cell transformation
  • involved in negative regulation of progression through cell cycle
  • playing a role in regulation of endocytosis
  • playing a role at the surface of the endocytic vesicle that has just been formed and of the future endosomes, in order to regulate intracellular trafficking
  • displays protein scaffold-like properties and binds with sarcomeric factors important in directing sarcomere protein assembly and myofiber maturation
  • isoforms expressed in CNS may be involved in synaptic vesicles endocytosis and may interact with dynamin, synaptojanin, endophilin and clathrin
  • isoforms expressed in muscle and ubiquitously, localize to cytoplasm and nucleus and activate a caspase-independent apoptotic process
  • plays an important role in cardiac muscle development
  • appears to function as a metastasis suppressor and chemosensitizer in neuroblastoma, and resistance to anoikis may be an important metastatic mechanism
  • functions to initiate T-tubule genesis in skeletal muscle cells
  • involved in tubular invaginations of membranes and is required for the biogenesis of muscle T tubules, which are specialized skeletal muscle membrane structures essential for excitation-contraction coupling
  • nucleocytoplasmic adaptor protein with tumor suppressor properties
  • involved in tubular invaginations of membranes and is required for the biogenesis of muscle T tubules, which are specialized skeletal muscle membrane structures essential for excitation-contraction coupling
  • potential role of BIN1 in skeletal muscle contractility and pathology of myopathy
  • might play an important role in tumor growth, cell motility and invasion
  • CELLULAR PROCESS cell cycle, progression
    cell life, differentiation
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS development , endocytosis transport
    text cell differentiation in skeletal muscle
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimer with AMPH
  • forming a complex with both actin and myosin filaments and CDK5
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • actin
  • SH3GLB1
  • SYNJ1 through its SH3 domain
  • DNM1 through its SH3 domain
  • clathrin through a region outside of the SH3 domain
  • AP2A2
  • N-terminal transactivation domain of MYC in a manner requiring the integrity of the conserved MYC box regions 1 and 2
  • interacting with BIN2
  • CACNA1C targeting to BIN1 is functionally important to cardiac calcium signaling
  • MBNL1 binds the BIN1 pre-mRNA and regulates its alternative splicing
  • can interact with MYC oncoprotein in cancer
  • EGFR activation also promotes RIN1 interaction with BIN1, a membrane bending protein
  • MTM1 is a novel binding partner of BIN1, endogenously in skeletal muscle
  • role for WASL in BIN1-dependent nuclear positioning and triad organization and in centronuclear myopathy (CNM) and myotonic dystrophy pathophysiology
  • cell & other
    REGULATION
    activated by transactivated by MYOD
    Other phosphorylated by PKC
    ASSOCIATED DISORDERS
    corresponding disease(s) CNM3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    prostate and breast carcinomas
    tumoral     --low  
    in primary hepatocellular carcinoma tumor tissues
    Susceptibility to familial late-onset Alzheimer disease
    Variant & Polymorphism SNP SNPs in BIN1, in association with APOE epsilon4 homozygotes associated to familial late-onset Alzheimer disease
    Candidate gene
    Marker
  • could serve as a marker for metastatic potential and chemosensitivity (
  • novel prognostic marker in hepatocellular carcinoma
  • Therapy target
    SystemTypeDisorderPubmed
    immunologyinflammatory 
    novel therapeutic target for IBD treatment
    ANIMAL & CELL MODELS
  • Bin1 splicing alteration in mice is sufficient to promote T tubule alterations and muscle weakness, a predominant feature of myotonic dystrophy