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FLASH GENE
Symbol SYN1 contributors: mct/shn/pgu - updated : 24-06-2015
HGNC name synapsin I
HGNC id 11494
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