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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
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 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