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FLASH GENE
Symbol UNC13D contributors: mct/npt - updated : 19-09-2015
HGNC name unc-13 homolog D (C. elegans)
HGNC id 23147
Corresponding disease
HPLH3 hemophagocytic lymphohistiocytosis, familial, 3
Location 17q25.1      Physical location : 73.823.309 - 73.840.798
Synonym symbol(s) Munc13-4, FLJ00067, FHL3, HLH3, HPLH3
DNA
TYPE functioning gene
STRUCTURE 17.49 kb     32 Exon(s)
MAPPING cloned Y linked N status provisional
Physical map
GRB2 17q24.3-q25 growth factor receptor-bound protein 2 KIAA0195 17q25.3 growth factor receptor-bound protein 2 CASKIN2 17q25.3 CASK interacting protein 2 LOC283989 17q25.3 hypothetical protein LOC283989 LLGL2 17q24-q25 lethal giant larvae homolog 2 (Drosophila) MYO15B 17q25 myosin XVB, pseudogene LOC390815 17 similar to Myosin XV (Unconventional myosin-15) RECQL5 17q25 RecQ protein-like 5 HCNGP 17q25.3 transcriptional regulator protein ITGB4 17q24.3 integrin, beta 4 GALK1 17q24 galactokinase 1 H3F3B 17q25 H3 histone, family 3B (H3.3B) KIAA1753 17q25.3 KIAA1753 protein UNC13D 17q25.3 unc-13 homolog D (C. elegans) WBP2 17q25 WW domain binding protein 2 TRIM47 17q24.q25 tripartite motif-containing 47 LOC201292 17q25.3 hypothetical protein LOC201292 MRPL38 17q23-q25 mitochondrial ribosomal protein L38 FBF-1 17q25.3 Fas binding protein 1 ACOX1 17q25.1 acyl-Coenzyme A oxidase 1, palmitoyl CDK3 17q25 cyclin-dependent kinase 3 EVPL 17q24.2-q24.3 envoplakin SRP68 17q25,1 signal recognition particle 68kDa GALR2 17q25.3 galanin receptor 2 LGICZ 17q25.3 ligand-gated ion channel subunit EXO70 17q25.3 ligand-gated ion channel subunit FOXJ1 17q forkhead box J1 KIAA1917 17q25.3 KIAA1917 protein MGC29814 17q25.3 hypothetical protein MGC29814 DKFZP434P0316 17q25.3 hypothetical protein DKFZp434P0316
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
32 - 4406 123.3 1090 - Donn (2008)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Lymphoid/Immunelymph node   highly
Nervousbraindiencephalonepithalamuspineal gland 
Reproductivefemale systemuteruscervix  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N- and C-terminal C2 domains (C2A and C2B) predicted to bind Ca(2+)
  • one MH (MUNC13 homology) domain
  • HOMOLOGY
    interspecies ortholog to murine Unc13d
    ortholog to rattus Unc13d
    Homologene
    FAMILY
  • phospholipid binding domain containing protein family
  • CAPS/Munc13 protein family
  • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text colocalizes with cytotoxic granules at the plasma membrane
    basic FUNCTION
  • required for the regulated secretion of cytotoxic granules at the priming stage of the exocytic pathway
  • involved in Ca(2+)-dependent secretory lysosome exocytosis in mast cells (Higashio 2008)
  • importance of UNC13D in platelets, indicating that it is a limiting factor required for platelet secretion and hemostasis
  • restricts motility of RAB27A-expressing vesicles to facilitate lipopolysaccharide-induced priming of exocytosis in neutrophils
  • essential in intracellular trafficking and exocytosis of lytic granules
  • possible function as a Ca(2+) sensor at rate-limiting priming steps in granule exocytosis
  • novel functions in the innate immune response of the neutrophil and have direct implications for the understanding of immunodeficiencies in patients with UNC13D deficiency
  • involved in perforin secretion and FHL development
  • regulates the late endocytic machinery and late endosomal-associated innate immune cellular functions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling
    a component DOC2A-UNC13D system regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells (Higashio 2008)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • exhibited Ca(2+)-stimulated SNARE interactions dependent on C2A and Ca(2+)-dependent membrane binding dependent on C2B
  • RAB27A effector that coordinates exocytosis in hematopoietic cell
  • UNC13D binding to STX7 was significantly increased by calcium
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPLH3
    Susceptibility to autoimmune lymphoproliferative syndrome (ALPS)
    Variant & Polymorphism other
  • rare loss-of-function variations of UND13D are risk factors for ALPS development
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS