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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
Corresponding disease
DEL10Q11 chromosome 10q11.2 microdeletion/microduplication
Location 10q11.23      Physical location : 50.818.346 - 50.820.765
Synonym name vesicular acetylcholine transporter
Synonym symbol(s) VACHT, MGC12716
DNA
TYPE functioning gene
SPECIAL FEATURE gene in gene
text embedded in the first intron of CHAT
STRUCTURE 2.42 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure gene contained uninterrupted in the first intron of CHAT
MAPPING cloned Y linked N status confirmed
Physical map
ZNF488 10q11.22 zinc finger protein 488 RBP3 10q11.2 retinol binding protein 3, interstitial GDF2 10q11.22 growth differentiation factor 2 GDF10 10q21.1 growth differentiation factor 10 DKFZP566K0524 10q11.22 DKFZP566K0524 protein LOC387671 10 similar to ARF GTPase-activating protein LOC387672 10 similar to Ribosome biogenesis protein BMS1 homolog LOC387673 10 similar to Glutamate dehydrogenase, mitochondrial precursor (GDH) LOC338598 10q11.22 similar to hypothetical protein MGC5560 LOC118706 10q11.22 similar to ARF GTPase-activating protein LOC387674 10 similar to Ribosome biogenesis protein BMS1 homolog MGC35285 10q11.22 hypothetical protein MGC35285 MAPK8 10q11.2 mitogen-activated protein kinase 8 RhoGAP2 LOC387675 10 LOC387675 LOC159491 LOC389964 10 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein KIAA1607 FLJ31737 LOC170370 10q11.23 hypothetical LOC170370 LOC170371 10q11.23 hypothetical protein LOC170371 LOC118461 DRG11 ERCC6 10q11 excision repair cross-complementing rodent repair deficiency, complementation group 6 PGBD3 10q11 piggyBac transposable element derived 3 CHAT 10q11.2 choline acetyltransferase SLC18A3 10q11.2 solute carrier family 18 (vesicular acetylcholine), member 3 LOC282966 10q11.23 hypothetical protein LOC282966 FLJ10851 10q11.23 hypothetical protein FLJ10851 MAPK6PS6 10q11.21 hypothetical protein FLJ10851 PARG 10q11.23 poly (ADP-ribose) glycohydrolase LOC387676 10 similar to KIAA0592 protein LOC387677 10 hypothetical gene supported by BC051717; NM_133446 LOC255319 10q11.23 similar to ARF GTPase-activating protein MSMB 10q11.2 microseminoprotein, beta- NCOA4 10q11.2 nuclear receptor coactivator 4 TIMM23 10q11.21-q11.23 translocase of inner mitochondrial membrane 23 homolog (yeast) LOC387678 10 similar to ARF GTPase-activating protein LOC389965 10 similar to Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) LOC387679 10 similar to KIAA0592 protein LOC387680 10 similar to KIAA0592 protein LOC389966 10 similar to Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) ASAH2 10q11.21 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 LOC387681 10 hypothetical gene supported by BT007130; NM_001378 MOB 10q11.2 mob protein LOC340858 10q21.1 similar to hypothetical protein FLJ10539 FLJ31958 10q21.1 hypothetical protein FLJ31958 LOC389967 10 similar to bA182L21.1 (novel protein similar to hypothetical proteins) LOC389968 10 similar to Cathepsin L preproprotein LOC283023 10q21.1 similar to Geranylgeranyl transferase type I beta subunit (Type I protein geranyl-geranyltransferase beta subunit) (GGTase-I-beta) ACF 10q21,1 similar to Geranylgeranyl transferase type I beta subunit (Type I protein geranyl-geranyltransferase beta subunit) (GGTase-I-beta) PRKG1 10q11.2 protein kinase, cGMP-dependent, type I
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 2440 75 532 - Varoqui (1996)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Respiratoryrespiratory tractlarynx   
Skin/Tegumentskin   highly
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
Skin/Tegumentkeratinocyte
Skin/Tegumentmelanocyte
cell lineage
cell lines
fluid/secretion
at STAGE
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)