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FLASH GENE
Symbol CHAT contributors: mct - updated : 15-10-2013
HGNC name choline acetyltransferase
HGNC id 1912
Corresponding disease
CHAT congenital myasthenic syndrome
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
    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
    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) CHAT , DEL10Q11
    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