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FLASH GENE
Symbol CHAT contributors: mct - updated : 15-10-2013
HGNC name choline acetyltransferase
HGNC id 1912
Corresponding disease
CMS6 congenital myasthenic syndrome 6
DEL10Q11 chromosome 10q11.2 microdeletion/microduplication
Location 10q11.23      Physical location : 50.817.140 - 50.873.150
Synonym name
  • choline acetylase
  • choline O-acetyltransferase
  • Synonym symbol(s) CHOACTase, CMS1A, CMS1A2
    EC.number 2.3.1.6
    DNA
    TYPE functioning gene
    STRUCTURE 56.01 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 initiation site 2124 70.3 630 - 1995 7616604
  • 5' utr exon R
  • variant R - isoform 1
  • 16 splicing initiation site 2286 70.3 630 - 1995 7616604
  • variant N1 - isoform 1
  • 5' utr exon N and M part of exon M
  • 15 initiation site 2114 70.3 630 - 1995 7616604
  • variant N2 - isoform 1
  • 5'utr exon N
  • 15 - 2458 82.6 748 - 1995 7616604
  • variant M - isoform 1 and 2
  • 5'utr exon M
  • 16 - 2528 - 666 - 1995 7616604
  • variant S
  • 16 - 2528 - 630 - 1995 7616604
    15 - 2458 - 630 - 1995 7616604
    variant M
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
     spinal cord    
    Reproductivefemale systemplacenta    Mus musculus
    Respiratoryrespiratory tract     Mus musculus
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervouscholinergic neuron Homo sapiens
    Respiratoryalveolar macrophage Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Chat
    Homologene
    FAMILY carnitine/choline acetyltransferase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • neurotransmitter catalyzing the reversible synthesis of acetylcholine(ACH) from acetyl CoA and choline at cholinergic synapses
  • catalyzes synthesis of acetylcholine from acetyl-CoA (AcCoA) and choline in cholinergic neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other involvement of histone acetylation in the regulation of choline acetyltransferase gene in neuronal cells
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS6 , DEL10Q11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in the large striatal interneurons of Huntington disease (HD)
    Susceptibility to Alzheimer disease (AD)
    Variant & Polymorphism other
  • CHAT A/A genotype was associated with earlier onset of AD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS