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FLASH GENE
Symbol UNC13A contributors: mct/npt - updated : 05-11-2009
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
    Physical map
    MGC20533 19p13.12 similar to RIKEN cDNA 2410004L22 gene (M. musculus) MYO9B 19p13.1 myosin IXB MDS032 19p13.12 uncharacterized hematopoietic stem/progenitor cells protein MDS032 FLJ22709 19p13.12 hypothetical protein FLJ22709 NR2F6 19p13.1 nuclear receptor subfamily 2, group F, member 6 MCC2 19p13 nuclear receptor subfamily 2, group F, member 6 HSPC142 19p13.12 HSPC142 protein FLJ39369 19p13.12 hypothetical protein FLJ39369 ABHD8 19p13.12 abhydrolase domain containing 8 MRPL34 19p13.1 mitochondrial ribosomal protein L33 MGC2594 19p13.12 hypothetical protein MGC2594 KIAA1623 19p13.12 KIAA1623 GTPBP3 19p13.12 GTP binding protein 3 (mitochondrial) PLVAP 19p13.2 plasmalemma vesicle associated protein BST2 19p13.2 bone marrow stromal cell antigen 2 LOC93343 19p13.12 hypothetical protein BC011840 LOC115861 19p13.12 hypothetical protein BC014127 SLC27A1 19p13.1 solute carrier family 27 (fatty acid transporter), member 1 PGLS 19p13.2 6-phosphogluconolactonase BCNP1 19p13.12 B-cell novel protein 1 FLJ22329 19p13.12 hypothetical protein FLJ22329 UNC13A 19p13.12 unc-13 homolog A (C. elegans) VCY2IP1 19p13.12 VCY2 interacting protein 1 KIAA0290 B3GNT3 19p13.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 INSL3 19p13.1-p12 insulin-like 3 (Leydig cell) JAK3 19p13.1 Janus kinase 3 (a protein tyrosine kinase, leukocyte) RPL18A 19p13 ribosomal protein L18a SLC5A5 19p13.2-p12 solute carrier family 5 (sodium iodide symporter), member 5 LOC115098 19p13.12 hypothetical protein BC013949 KCNN1 19p13.1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 CLONE24945
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    45 - 10102 - 1791 - Rossner (2004)
    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)
  • mediates the transition from the closed syntaxin-STXBP1 complex to the SNARE complex
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    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