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FLASH GENE
Symbol SYN1 contributors: mct/shn/pgu - updated : 24-06-2015
HGNC name synapsin I
HGNC id 11494
DNA
TYPE functioning gene
STRUCTURE 47.96 kb     13 Exon(s)    1 Copie(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
Binding site   transcription factor
motif
text structure
  • an actin binding site
  • promoter region is a GC-rich sequence without TATA or CAAT elements whose neuron-specific expression is dependent on a highly conserved sequence proximal to the transcriptional start site
  • promoter comprises a CpG-rich region (&
    • 8722;420 to &
    8722;30), where the Sp1 binding sites are located
  • a conserved region of SYN1 promoter contains cis-sites for the transcriptional activator Sp1 in close proximity to REST binding motifs
    • MAPPING cloned Y linked Y status confirmed
    Map pter - DXS1055 - DXS1003 - SYN1 - DXS1208 - DXS1039 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 3210 - 705 most abundant of all neuronal phosphoproteins enriched in synaptic vesicles 2004 15265868
  • transcript variant Ia
    • 13 splicing 3172 - 669 most abundant of all neuronal phosphoproteins enriched in synaptic vesicles 2004 15265868
  • transcript variant Ib
    • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain    
     nerve    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three conserved domains of the family, the phosphorylated A domain at the N terminus,
  • a central ATP-binding domain
  • a C terminal E domain in SYN1a replaced by a F domain in SYN1b
    • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to Syn1, Mus mussculus
    ortholog to Syn1, Rattus norvegicus
    intraspecies homolog to SYN2
    Homologene
    FAMILY synapsin gene family
    CATEGORY regulatory , transport
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    text peripheral membrane of synaptic vesicles
    basic FUNCTION
  • plays a role in regulation of axonogenesis and synaptogenesis
  • implicated in synaptogenesis and the modulation of neurotransmitter release from adult nerve terminals
  • role in regulation of axonogenesis and synaptogenesis
  • implicated in neuronal development, synaptogenesis and maintenance of mature synapses
  • playing a role during neuronal development and synapse formation
  • neuron-specific phosphoprotein implicated in the regulation of neurotransmitter release and synaptogenesis
  • can participate in the synaptic autism pathway, reflecting a disorder of regulation of a family of synaptic genes essential for activity-dependent changes in neuronal function
  • is pivotal for maintaining synaptic vesicle cluster integrity and that it contributes to the regulated sharing of vesicles between terminals
  • essential to maintain the dynamic structural organization of synapses and the size of the reserve pool of synaptic vesicles (SVs) during intense SV recycling
  • plays a crucial role during axonogenesis and synaptogenesis as well as in synaptic transmission and plasticity of mature neurons
  • neuronal phosphoprotein associated with the cytosolic surface of synaptic vesicles
  • synapsin accumulates at sites of synaptic growth and facilitates budding of new boutons via a cAMP/PKA-dependent pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system
    text vesicular transport
    PATHWAY
    metabolism
    signaling neurotransmission
    synaptic transmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • synapsin II, SYN2 and synapsin III, SYN3
  • Src homology 3 (SH3) domains of Grb2 and c-Src phospholipase C-gamma, p85 subunit of phosphatidylinositol 3-kinase, SH3 domains of amphiphysins I/II, Crk, alpha-spectrin, NADPH oxidase factor p47(phox)
  • nNOS adapter protein, CAPON
  • S100 calcium binding protein A1, S100A1 in the nerve terminals
  • RAB3A, member RAS oncogene family, RAB3A
  • SP1 can directly interact with SYN1 promoter and it plays an important role in promoting SYN1 transcription
  • PRICKLE1 physically interactwith SYN1 via the SYN1 region mutated in ASD and epilepsy
  • HAP1 interacts with SYN1, an abundant neuronal phosphoprotein that associates with synaptic vesicle (SV) during neurotransmitter release and regulates synaptic plasticity and neuronal development
    • cell & other
    REGULATION
    activated by SP1 that is a fundamental activator of basal SYN1 gene expression, whose activity is modulated by the neural master regulator REST and CpG methylation
    Phosphorylated by CDK5, and this phosphorylation is physiologically regulated and enhances its binding to F-actin
    Other Ser(603) on SYN1 is alternatively phosphorylated by PAKs, not only by CaMKII, in neuronal cells in response to some stimulants
    ASSOCIATED DISORDERS
    corresponding disease(s) ELDX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    impaired SYN1 function is associated with hyperexcitability of the temporoinsular network and disturbance of high mental functions such as language and social interaction
    Susceptibility
  • to lupus erythematosus
  • to autism spectrum disorders with epilepsy or not
    • Variant & Polymorphism other
  • Q555X mutation associated to autism spectrum disorders with epilepsy or not
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • synapsin I-deficient mice display a severely retarded outgrowth of predendritic neurites, synapse formation and axons of hippocampal neurons
  • Synapsin knock-out (Syn1(-/-) ) mice display an epileptic phenotype