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FLASH GENE
Symbol SLC18A3 contributors: mct/npt - updated : 12-07-2010
HGNC name solute carrier family 18 (vesicular acetylcholine), member 3
HGNC id 10936
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • twelve transmembrane spanning segments (12TM)
  • a dileucine-containing motif sufficient as a dual signal for both internalization and synaptic vesicles targeting during SLC18A3 trafficking (Colgan 2007)
  • C-terminus of the transporter is required for its synaptic vesicles targeting (Colgan 2007)
    • HOMOLOGY
    Homologene
    FAMILY
  • major facilitator superfamily
  • vesicular transporter family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic,vesicle
    text localization to synaptic vesicles (Ferreira 2005)
    basic FUNCTION
  • vesicular acetyl-choline transporter
  • regulates the amount of acetylcholine stored in synaptic vesicles (Ferreira 2005)
  • involved in acetylcholine transport into synaptic vesicles
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL10Q11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    VAChT mutant mice have decreased left ventricle function associated with altered calcium handling, and phenotype was attributable to reduced cholinergic tone, since administration of the cholinesterase inhibitor pyridostigmine for 2 weeks reversed the cardiac phenotype in mutant mice (Lara 2010)