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FLASH GENE
Symbol BIN1 contributors: mct/pgu - updated : 23-01-2014
HGNC name bridging integrator 1
HGNC id 1052
Corresponding disease
CNM3 centronuclear myopathy 3
Location 2q14.3      Physical location : 127.805.606 - 127.864.864
Synonym name
  • BAR adaptor gene 1
  • box-dependent myc-interacting protein 1
  • amphiphysin 2
  • amphiphysin-like
  • Synonym symbol(s) AMPHL, SH3P9, AMPH2, DKFZp547F068, MGC10367
    DNA
    TYPE functioning gene
    STRUCTURE 59.26 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure no TATA box, housekeeping, CpG rich
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC150554 2q21.1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene GYPC 2q14-q21 glycophorin C (Gerbich blood group) LOC339760 2q21.1 hypothetical LOC339760 BIN1 2q14 bridging integrator 1 LOC389029 2 LOC389029 LOC339761 2q21.1 similar to 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial precursor (Calcidiol 1-monooxygenase) (25-OHD-1 alpha-hydroxylase) (25-hydroxyvitamin D(3) 1-alpha-hydroxylase) (VD3 1A hydroxylase) (P450C1 alpha) (P450VD1-alpha) ERCC3 2q21 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) MAP3K2 2q14.3 mitogen-activated protein kinase kinase kinase 2 LOC389030 2 LOC389030 PROC 2q13-q14 protein C (inactivator of coagulation factors Va and VIIIa) FLJ10006 2q21.1 hypothetical protein FLJ10006 LOC389031 2 similar to myosin-VIIb MYO7B 2q21.1 myosin VIIB LIMS2 2q14.2 LIM and senescent cell antigen-like domains 2 GPR17 2q21 G protein-coupled receptor 17 MGC5391 2q21.1 hypothetical protein MGC5391 FLJ11294 2q21.1 hypothetical protein FLJ11294 POLR2D 2q21 polymerase (RNA) II (DNA directed) polypeptide D MGC4268 2q21 hypothetical protein MGC4268 SAP130 2q21.1 mSin3A-associated protein 130 UGCGL1 2q14.2 UDP-glucose ceramide glucosyltransferase-like 1 HS6ST1 2q21 heparan sulfate 6-O-sulfotransferase 1 LOC391432 2 similar to hypothetical protein LOC389032 2 LOC389032
    RNA
    TRANSCRIPTS type messenger
    text
  • missplicing results in expression of an inactive form of BIN1 lacking phosphatidylinositol 5-phosphate-binding and membrane-tubulating activities (PMID: 21623381)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 2412 56.4 518 - 2011 21623381
  • lacking three in-frame exons in the coding region compared to variant 1
  • variant 5 - IIb
  • binding dynamin, synaptojanin and endophilin
  • isoform 5
  • 16 splicing 2376 55 506 - 2011 21623381
  • lacking three in-frame exons in the coding region compared to variant 1
  • variant 3 - IIc1
  • binding dynamin and synaptojanin
  • isoform 3
  • 14 splicing 2165 48.1 439 ubiquitously expressed 2011 21623381
  • excluding MBD
  • lacking five in-frame exons in the coding region compared to variant 1
  • variant 9 - IIB, BIN1-10
  • isoform 9
  • 13 splicing 2075 45.4 409 ubiquitously expressed 2011 21623381
  • lacking six in-frame exons in the coding region compared to variant 1
  • variant 10 - BIN1-10-13
  • isoform 10
  • 16 splicing 2333 54.8 497 - 2011 21623381
  • lacking four in-frame exons and having an additional in-frame exon in the coding region compared to variant 1
  • variant 4 - BIN1+12A
  • isoform 4
  • 15 splicing 2289 52.9 482 - 2011 21623381
  • lacking four in-frame exons in the coding region compared to variant 1
  • variant 6 - II2
  • isoform 6
  • 19 splicing 2637 64.6 593 . brain specific (nerve terminals) . cytoplasmic 2011 21623381
  • excluding MBD
  • binding dynamin, synaptojanin, and clathrin
  • variant 1 - IIa, S11R3-a
  • isoform 1
  • 15 splicing 2283 51.6 475 brain specific 2011 21623381
  • lacking three in-frame exons in the coding region compared to variant 1
  • variant 7 - IIc2, S1/R3-c
  • binding dynamin and synaptojanin
  • isoform 7
  • 15 splicing 2210 50.1 454 . expressed in muscle . localized to the nucleus 2011 21623381
  • lacking five in-frame exons and having an additional in-frame exon in the coding region compared to variant 1
  • variant 8 - BIN1
  • isoform 8
  • 18 splicing 2508 59.8 550 - 2011 21623381
  • lacking an in-frame exon in the coding region compared to variant 1
  • variant 2 - IId, S1/R3-6
  • binding dynamin, synaptojanin, and clathrin
  • isoform 2
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Digestivesalivary gland   predominantly
     stomach   moderately
    Lymphoid/Immunespleen   moderately
     tonsils   highly
    Nervousbrain   highly
     nerve   highly
    Reproductivefemale systemuteruscervix moderately
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
  • 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