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FLASH GENE
Symbol UNC13A contributors: mct/npt - updated : 08-07-2014
HGNC name unc-13 homolog A (C. elegans)
HGNC id 23150
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a MUN domain, which plays a central role in vesicle priming
  • HOMOLOGY
    interspecies homolog to rattus Munc 13.1
    Homologene
    FAMILY
  • unc-13 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • diacylglycerol and phorbol ester receptor playing an essential role in synaptic vesicle priming
  • in addition to protein kinase C, significantly contributes to the regulation of secretory APP metabolism
  • regulates the release of neurotransmitters such as glutamate at neuromuscular synapses (Van Es 2009)
  • UNC13A, STXBP1 regulate early neurite outgrowth
  • mediates the transition from the closed syntaxin-STXBP1 complex to the SNARE complex
  • requirement of UNC13A for lipid mixing of STX1STXBP1 liposomes with synaptobrevin liposome
  • is essential for synaptic transmission
  • although CADPS and UNC13A play crucial roles in the priming stage of secretion, their functions are non-redundant
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between UNC13A and RIMS1 is critical for glucagon-like peptide-1 mediated rescue of exocytotic defects in UNC13A deficient pancreatic beta-cells
  • resulting STXBP1UNC13A-SNARE assembly underlies the primed state that enables fast membrane fusion through the action of synaptotagmin-1 and Ca2+
  • UNC13B and UNC13C limit the ability of UNC13A to regulate calcium-dependent replenishment of readily releasable pool and slow pool to fast pool conversion in central synapses
  • CADPS binds to syntaxin-1 in a distinct mode from UNC13A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to sporadic amyotrophic lateral sclerosis
    Variant & Polymorphism SNP increasing the risk of sporadic amyotrophic lateral sclerosis (Van Es 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS