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Aliases for CHAT Gene

Aliases for CHAT Gene

  • Choline O-Acetyltransferase 2 3
  • Choline Acetylase 3 4
  • EC 4 63
  • CMS1A2 3 6
  • Acetyl CoA:Choline O-Acetyltransferase 3
  • Choline Acetyltransferase 2
  • EC 2.3.1 63
  • CMS1A 3
  • ChAT 4

External Ids for CHAT Gene

Previous GeneCards Identifiers for CHAT Gene

  • GC10P049721
  • GC10P050709
  • GC10P050161
  • GC10P050487
  • GC10P050817
  • GC10P045081

Summaries for CHAT Gene

Entrez Gene Summary for CHAT Gene

  • This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]

GeneCards Summary for CHAT Gene

CHAT (Choline O-Acetyltransferase) is a Protein Coding gene. Diseases associated with CHAT include myasthenic syndrome, congenital, associated with episodic apnea and congenital myasthenic syndrome with episodic apnea. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include choline O-acetyltransferase activity. An important paralog of this gene is CRAT.

UniProtKB/Swiss-Prot for CHAT Gene

  • Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses

Gene Wiki entry for CHAT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHAT Gene

Genomics for CHAT Gene

Regulatory Elements for CHAT Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CHAT Gene

49,609,095 bp from pter
49,665,104 bp from pter
56,010 bases
Plus strand

Genomic View for CHAT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHAT Gene

Proteins for CHAT Gene

  • Protein details for CHAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Choline O-acetyltransferase
    Protein Accession:
    Secondary Accessions:
    • A2BDF4
    • A2BDF5
    • Q16488
    • Q9BQ23
    • Q9BQ35
    • Q9BQE1

    Protein attributes for CHAT Gene

    748 amino acids
    Molecular mass:
    82536 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CHAT Gene

    Alternative splice isoforms for CHAT Gene


neXtProt entry for CHAT Gene

Proteomics data for CHAT Gene at MOPED

Post-translational modifications for CHAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for CHAT (Choline Acetyltransferase/ChAT)

Domains for CHAT Gene

Protein Domains for CHAT Gene

Suggested Antigen Peptide Sequences for CHAT Gene

Graphical View of Domain Structure for InterPro Entry



  • P28329
  • Belongs to the carnitine/choline acetyltransferase family.
genes like me logo Genes that share domains with CHAT: view

No data available for Gene Families for CHAT Gene

Function for CHAT Gene

Molecular function for CHAT Gene

GENATLAS Biochemistry:
choline acetyltransferase neurotransmitter acetylcholine catalyzing enzyme synthesis,expressed in the brain and spinal cord
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + choline = CoA + O-acetylcholine
UniProtKB/Swiss-Prot Function:
Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses

Enzyme Numbers (IUBMB) for CHAT Gene

Gene Ontology (GO) - Molecular Function for CHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004102 choline O-acetyltransferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups --
genes like me logo Genes that share ontologies with CHAT: view
genes like me logo Genes that share phenotypes with CHAT: view

Animal Models for CHAT Gene

MGI Knock Outs for CHAT:

miRNA for CHAT Gene

miRTarBase miRNAs that target CHAT

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHAT

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for CHAT Gene

Localization for CHAT Gene

Subcellular locations from

Jensen Localization Image for CHAT Gene COMPARTMENTS Subcellular localization image for CHAT gene
Compartment Confidence
cytosol 4
nucleus 4
peroxisome 3
cytoskeleton 2
extracellular 2
mitochondrion 2
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10861222
GO:0005737 cytoplasm TAS 10861222
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with CHAT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CHAT Gene

Pathways for CHAT Gene

genes like me logo Genes that share pathways with CHAT: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CHAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007274 neuromuscular synaptic transmission IEA --
genes like me logo Genes that share ontologies with CHAT: view

Compounds for CHAT Gene

(4) HMDB Compounds for CHAT Gene

Compound Synonyms Cas Number PubMed IDs
  • ACh
  • S-Acetyl coenzyme A
  • (2-Hydroxyethyl)trimethyl ammonium
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt

(1) Drugbank Compounds for CHAT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • Bilineurine
62-49-7 enzyme substrate

(101) Novoseek inferred chemical compound relationships for CHAT Gene

Compound -log(P) Hits PubMed IDs
choline 97.7 323
acetylcholine 85.7 142
(2-benzoylethyl)trimethylammonium iodide 76 1
n-aminodeanol 74.4 1
af 64a 66.3 8
genes like me logo Genes that share compounds with CHAT: view

Transcripts for CHAT Gene

Unigene Clusters for CHAT Gene

Choline O-acetyltransferase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHAT

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHAT Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP5: -

Relevant External Links for CHAT Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CHAT Gene

mRNA expression in normal human tissues for CHAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHAT Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (16.6), Brain - Caudate (basal ganglia) (15.3), and Brain - Nucleus accumbens (basal ganglia) (6.1).

Protein differential expression in normal tissues for CHAT Gene

This gene is overexpressed in Monocytes (34.9), Tlymphocyte (20.1), and Placenta (6.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CHAT Gene

SOURCE GeneReport for Unigene cluster for CHAT Gene Hs.302002

genes like me logo Genes that share expressions with CHAT: view

Expression partners for CHAT Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CHAT Gene

Orthologs for CHAT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHAT Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CHAT 35
  • 88.37 (n)
  • 90.3 (a)
  • 89 (a)
(Canis familiaris)
Mammalia CHAT 35
  • 87.58 (n)
  • 89.83 (a)
  • 84 (a)
(Mus musculus)
Mammalia Chat 35
  • 85.98 (n)
  • 88.19 (a)
Chat 16
Chat 36
  • 87 (a)
(Pan troglodytes)
Mammalia CHAT 35
  • 99.1 (n)
  • 98.19 (a)
  • 98 (a)
(Rattus norvegicus)
Mammalia Chat 35
  • 86.14 (n)
  • 88.5 (a)
(Monodelphis domestica)
Mammalia CHAT 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia CHAT 36
  • 79 (a)
(Gallus gallus)
Aves CHAT 35
  • 72.26 (n)
  • 78.01 (a)
  • 78 (a)
(Anolis carolinensis)
Reptilia CHAT 36
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia chat 35
  • 67.19 (n)
  • 74.02 (a)
(Danio rerio)
Actinopterygii chat 35
  • 64.78 (n)
  • 67.42 (a)
zgc64220 35
chat 36
  • 65 (a)
CHAT (2 of 2) 36
  • 58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5122 37
  • 38 (a)
CG5265 37
  • 32 (a)
Cha 37
  • 38 (a)
Cha 35
  • 52.59 (n)
  • 41.58 (a)
Cha 36
  • 35 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002370 35
  • 52.94 (n)
  • 41.35 (a)
(Caenorhabditis elegans)
Secernentea B0395.3 37
  • 34 (a)
cha-1 37
  • 34 (a)
cha-1 35
  • 45.84 (n)
  • 37.52 (a)
cha-1 36
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAT2 36
  • 28 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14198 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
Species with no ortholog for CHAT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHAT Gene

Gene Tree for CHAT (if available)
Gene Tree for CHAT (if available)

Paralogs for CHAT Gene

Paralogs for CHAT Gene

Selected SIMAP similar genes for CHAT Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CHAT: view

Variants for CHAT Gene

Sequence variations from dbSNP and Humsavar for CHAT Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs868749 - 49,625,616(+) CATGC(C/T)GGAGC reference, missense
rs868750 -- 49,625,793(+) AGTGG(A/G)GCCCC intron-variant
rs885834 -- 49,607,466(+) AATAG(A/G)GAAGC upstream-variant-2KB
rs952850 -- 49,632,868(-) CCTGC(A/G)CGTGG intron-variant
rs1880676 -- 49,616,071(+) GCAGA(A/G)ATGAA intron-variant, missense, reference, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CHAT Gene

Variant ID Type Subtype PubMed ID
nsv7203 OTHER Inversion 18451855
nsv895365 CNV Loss 21882294
nsv895369 CNV Gain 21882294
nsv895375 CNV Gain 21882294
nsv895378 CNV Gain 21882294
esv1348586 CNV Insertion 17803354
nsv510217 CNV Loss 20534489

Relevant External Links for CHAT Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHAT Gene

Disorders for CHAT Gene

(1) OMIM Diseases for CHAT Gene (118490)


  • Myasthenic syndrome, congenital, associated with episodic apnea (CMSEA) [MIM:254210]: An autosomal recessive congenital myasthenic syndrome. Patients have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. {ECO:0000269 PubMed:11172068, ECO:0000269 PubMed:12756141}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(52) Novoseek inferred disease relationships for CHAT Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 79.4 69
myasthenic syndromes congenital 79.1 9
senile plaques 68.8 12
inherited olivopontocerebellar atrophy 61 1
neurofibrillary tangles 60.2 10

Relevant External Links for CHAT

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CHAT: view

No data available for Genatlas for CHAT Gene

Publications for CHAT Gene

  1. Substrate binding and catalytic mechanism of human choline acetyltransferase. (PMID: 17144655) Kim A.-R. … Shilton B.H. (Biochemistry 2006) 3 4 23 25
  2. Two mRNAs are transcribed from the human gene for choline acetyltransferase. (PMID: 1388731) Lorenzi M.V. … Strauss W.L. (DNA Cell Biol. 1992) 3 4 23
  3. Isolation and sub-chromosomal localization of a DNA fragment of the human choline acetyltransferase gene. (PMID: 1784419) Cervini R. … Finocchiaro G. (Neurosci. Lett. 1991) 3 4 23
  4. A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells. (PMID: 1337937) Oda Y. … Deguchi T. (Brain Res. Mol. Brain Res. 1992) 3 4 23
  5. Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions. (PMID: 1339386) Toussaint J.L. … Kempf J. (Genomics 1992) 3 4 23

Products for CHAT Gene

Sources for CHAT Gene

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