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FLASH GENE
Symbol BSN contributors: mct:/npt - updated : 08-07-2016
HGNC name bassoon (presynaptic cytomatrix protein)
HGNC id 1117
Location 3p21.31      Physical location : 49.591.921 - 49.708.981
Synonym name
  • zinc finger protein 231
  • neuronal double zinc finger protein
  • protein bassoon
  • Synonym symbol(s) ZNF231, KIAA0434
    DNA
    TYPE functioning gene
    STRUCTURE 117.06 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 15964 416 3926 - Altrock (2003)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain    
     nerve    
    Reproductivemale systemtestis   
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines cerebellum and in a neuroblastoma cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • double zinc finger motif
  • three coiled-coil domains
  • an heptad repeat region
  • three repeats
  • a C terminal synapsin-like domain
  • two glycine-proline dipeptide repeats
  • a CAST-binding domain
  • a pair of homologous C8 double zinc finger motifs
  • a leucine zipper motif
  • an SH3 domain-binding motif
  • two nuclear targeting sequences
  • two glutamine-rich domains
  • an histidine-rich domain
  • HOMOLOGY
    interspecies ortholog to murine Bsn
    Homologene
    FAMILY CAZ protein family
    CATEGORY structural protein , transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text
  • cytoskeletal protein localized to sites of presynaptic neurotransmitter release
  • highly concentrated at the synaptic active zone
  • basic FUNCTION
  • potential transcriptional regulator
  • core active zone protein not essential for synapse formation but playing an essential role in the regulated neurotransmitter release from a subset of glutamatergic synapses
  • scaffolding protein involved in organizing the presynaptic cytoskeleton
  • thought to participate in the organization of the cytomatrix at the site of neurotransmitter release
  • is important for organizing the presynaptic active zone during the postnatal maturation of glutamatergic synapses
  • with PCLO play a redundant role in synaptic vesicle clustering in nerve terminals without directly participating in neurotransmitter release (Mukherjee 2010)
  • function as tethering proteins that mediate efficient synaptic vesicle clustering, but that neither piccolo nor bassoon has a direct role in either synapse formation or neurotransmitter release (Mukherjee 2010)
  • is a cytosolic scaffolding protein essential for the active zone assembly in ribbon synapses and some brain synapses
  • CACNA1A, CACNA1B, preferentially accumulate at neuromuscular junctions (NMJs) active zones and play essential role in synaptic transmission in conjunction with the active zone protein BSN
  • BSN and environmental illumination synergistically and complementarily act as organizers of the ribbon synapse
  • promotes vesicular replenishment and, consequently, a large standing pool of readily releasable synaptic vesicles at the endbulb synapse
  • is a major regulator of the molecular composition of the presynaptic neurotransmitter release sites
  • controls presynaptic autophagy through ATG5
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    synaptic transmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • directly bind to RIMS1 and to C-terminus and central region of ERC2, respectively, forming a ternary complex
  • direct interaction with the ribbon-specific protein CTBP2 seems to link the two compartments and is responsible for the physical integrity of the photoreceptor ribbon complex
  • DAO activity is inhibited by an interaction with BSN protein at the presynaptic active zone
  • novel role for BSN and PCLO as critical regulators of presynaptic ubiquitination and proteostasis
  • interaction of BSN with the small adaptor protein 14-3-3, which depends on phosphorylation of the 14-3-3 binding motif of BSN
  • presynaptic scaffolding protein BSN localizes specifically CACNA1A to active zones via molecular interaction with the RIM-binding proteins (RBPs)
  • CTBP1 is targeted and/or anchored to presynapses by direct interaction with the active zone scaffolding proteins BSN and PCLO
  • interact with the C-terminal PBH 9/10 domains of PCLO and BSN via its own N-terminal Spectrin repeats, a domain that is also critical for its localization to the cytoskeletal matrix assembled at the presynaptic active zone (AZ) (CAZ)
  • mechanistically, BSN was found to interact with ATG5, an E3-like ligase essential for autophagy, and to inhibit the induction of autophagy in heterologous cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in cerebellum of patients with multiple system atrophy (MSA)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • partial-deletion mutants lacking functional bassoon (Bsn(deltaEx4/5)) had a near-complete loss of ribbons from the synapses (up to 88 p100 ribbonless synapses)
  • mice mutant for the presynaptic protein BSN develop epileptic seizures and an altered pattern of neuronal activity that is accompanied by abnormal enlargement of several brain structures, with the strongest size increase in hippocampus and cortex