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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
Location 19p13.11      Physical location : 17.712.137 - 17.799.008
Synonym name
  • rat munc 13.1 homolog
  • unc-13 homolog A
    • Synonym symbol(s) KIAA1032, Munc13-1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 87.26 kb     45 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    45 - 10102 - 1791 - 2004 15123597
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
     pancreas   moderately
    Nervousbrain   highly
     nerve   highly
    Reproductivefemale systemovary  moderately
     male systemtestis  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    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 STX1–STXBP1 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 STXBP1–UNC13A-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