Property Summary

NCBI Gene PubMed Count 90
PubMed Score 2550.62
PubTator Score 193.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 3.900 7.3e-17

Gene RIF (77)

PMID Text
26854842 sequence variants of CHAT were associated with human cognitive ability in not only patients with psychiatric disorders but also normal healthy individuals
26789281 Two novel CHAT gene mutations, p.Val306Leu and p.Ser704del were detected in an ethnic Kadazandusan family with congenital myasthenic syndrome.
26080897 There is a striking variability in the severity of phenotypes resulting from mutations in CHAT, which is the only gene so far known to be linked with congenital deficiency of ACh synthesis.
25730470 This study confirmed that genetic polymorphism of CHAT has an influence on drug response in Alzheimer's disease.
25405505 Data show thata the expression of choline acetyltransferase (ChAT) is reduced in the postmortem alcoholic basal forebrain in comparison to moderate drinking controls.
24844149 These studies indicate a novel relationship between cholinergic neurons and APP processing, with 82-kDa ChAT acting as a negative regulator of Abeta production
24076142 rs1880676 is functional and the allelic variations of this polymorphism are involved in developing nicotine dependence by altering ChAT expression.
23731954 The results demonstrate that human NSCs over-expressing ChAT improve cognitive function and physical activity of aging mice.
23242284 There was a loss of choline O-acetyltransferase in the visual cortex of dementia with Lewy bodies patients.
22683430 In airway epithelial cells anti-CHAT immunogold was found particularly within the apical cell membrane, cilia, submucosa, cytosol and nuclear membrane.
22483691 There were CHAT mRNA reactions in the synovial lining layer in patients with rheumatoid arthritis and osteoarthritis.
22449376 Data from transgenic mice expressing human CHAT in brain neurons suggest that CHAT is important in maintaining memory and learning throughout life.
21948486 Multiple abnormalities with intellectual and developmental disability result from recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3.
21883924 The ChAT rs3810950 A allele was found to be associated with a decrease cognitive status evaluated by a five-component cognitive composite score
21786365 the functional consequences of 12 missense and one nonsense mutations of CHAT in 11 patients. ( choline acetyltransferase)
21691765 Multiple sclerosis hippocampus, activity and protein expression of choline acetyltransferase (ChAT), the acetylcholine synthesizing enzyme, was decreased, while the activity and protein expression of acetylcholinesterase
21602657 The CHAT A/A genotype was associated with earlier onset of Alzheimer disease.
21507424 The data of this study did not seem to support a major role for CHAT genetic variation in geriatric depression and Alzheimer's disease , there might be a minor contribution in geriatric patients with depression.
21382474 [review] The peripheral type of ChAT appears to be a reliable marker for the visualization of peripheral cholinergic neurons and their processes, whereas other conventional markers including the common ChAT have not been used successfully for it.
21163949 overexpressed ChAT enhanced transcription of the CHT1 gene but not the VACHT gene
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20602615 Observational study of gene-disease association. (HuGE Navigator)
20560540 residues M84, Y436, and Y552 play a critical role in binding and holding the choline substrate in the ChAT active site.
20468060 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20383528 Replication and association of CHAT with nicotine dependence in European and African American smokers are reported.
20383528 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20227257 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20147892 Although the effect sizes in both cohorts are modest, converging data across cohorts and phenotypes suggest that ChAT may be involved in nicotine dependence and ability to quit smoking.
20100532 the acquisition of neurotransmitter phenotype is epigenetically, at least the hyper-acetylation on the core promoter region of ChAT gene, regulated in NG108-15 neuronal cells
19913121 Observational study of gene-disease association. (HuGE Navigator)
19776575 There was no relationship between ChAT activity and cognition in the vascular dementia patients
19711100 Data suggest that neither the co-existence nor the co-absence of choline acetyltransferase and neuronal nitric oxide synthase in human myenteric neurons is indicative for particular neuron types.
19156168 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
18780301 SNPs of AChE, BChE, and ChAT genes do not seem to play a relevant role in the response to treatment with the two cholinesterase inhibitors donepezil and rivastigmine.
18780301 Observational study of gene-disease association. (HuGE Navigator)
18603262 Data shows that the ChAT polymorphism is associated significant to the combination AD and/or depression.
18603262 Observational study of gene-disease association. (HuGE Navigator)
18562794 ChAT 2384 A allele is a risk factor for Alzheimer's disease and mild cognition disorder
18562794 Observational study of gene-disease association. (HuGE Navigator)
18559515 Upregulation of choline acetyltransferase is associated with squamous cell lung carcinoma
18379437 These results indicate that basal forebrain cholinergic neuron abnormalities are present very early in aging and in the course of Alzheimer disease.
18322398 Alzheimer's disease nucleus basalis forebrain neurons, hyperinnervated by galanin, displays a significant upregulation in choline acetyltransferase.
18165968 From a panel of 59 single-nucleotide polymorphisms (SNPs) located on 11 candidate genes, we identify four SNPs (one each on CHRNA5 and CHRNA2 and two on CHAT) that appear to have pharmacogenetic relevance in smokin cessation therapy.
18165968 Observational study of gene-disease association. (HuGE Navigator)
17503482 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17503482 findings tentatively implicate a genetic influence of ChAt in the disorder's susceptibility.
17503475 Observational study of gene-disease association. (HuGE Navigator)
17503475 ChAT, polymorphisms do not constitute a major genetic risk factor for susceptibility to Alzheimer's disease in a Sardinian population.
17378730 Observational study of genetic testing. (HuGE Navigator)
17378730 This multiplex PCR technique can be carried out in a single tube and can differentiate between the three polymorphic sites of this gene associated with Alzheimer's disease.
17373692 Observational study of gene-disease association. (HuGE Navigator)
17144655 Structure of human ChAT to a resolution of 2.2 A along with structures for binary complexes of ChAT with choline, coenzyme A and a nonhydrolyzable acetyl-CoA analogue.
16480703 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16480703 There is considerable effect of the ChAT polymorphisms on Alzheimer's disease in Korean population and this effect is dependent on apolipoprotein E genotypes
16468020 No relationship between pattern of cholinergic deficits and distribution pattern of lesions in amygdala of patients with Alzheimer's disease or dementia with Lewy bodies.
16424819 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
16424819 one SNP, rs733722, in a promoter region of CHAT, is associated with response of AD patients to cholinesterase inhibitors
16385451 Observational study of gene-disease association. (HuGE Navigator)
16223550 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15913843 These findings show that significant thalamic presynaptic cholinergic deficits occur only in cases of combined cortical and subcortical neurodegeneration in which dementia developed after prolonged parkinsonism.
15690550 Observational study of gene-disease association. (HuGE Navigator)
15381704 ChAT is differentially phosphorylated by protein kinase C isoforms on four serines (Ser-440, Ser-346, Ser-347, and Ser-476) and one threonine (Thr-255)
15276243 Observational study of gene-disease association. (HuGE Navigator)
14514417 Choline acetyltransferase neurons in the human parietal neocortex, strongly supports the existence of intrinsic cholinergic innervation of the human neocortex
12770689 Observational study of gene-disease association. (HuGE Navigator)
12770689 previously identified polymorphism in choline acetyltransferase is not associated with Alzheimer's disease
12759818 Observational study of gene-disease association. (HuGE Navigator)
12759818 Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium (late-onset Alzheimer disease).
12637523 identification of a novel nuclear localization signal common to 69- and 82-kDa isoforms
12628465 the wide existence of ChAT in human endothelial cells
12609506 we identified a novel missense mutation (I336T) in the CHAT gene homozygously in all three patients. Haplotype analysis revealed that the mutant allele cosegregates with the clinical phenotype in both families.
12401548 Observational study of gene-disease association. (HuGE Navigator)
12401548 A G-to-A polymorphism detected in the first coding exon of the ChAT sequence may result in attenuated translation efficiency of ChAT mRNA and confer an increased risk for deterioration of memory and cognition functions in Alzheimer's disease.
12393272 Results suggest that c-Myb and C/EBPbeta act synergistically to increase choline acetyltransferase gene transcription in the nervous system.

AA Sequence

MGLRTAKKRGLGGGGKWKREEGGGTRGRREVRPACFLQSGGRGDPGDVGGPAGNPGCSPHPRAATRPPPL      1 - 70
PAHTPAHTPEWCGAASAEAAEPRRAGPHLCIPAPGLTKTPILEKVPRKMAAKTPSSEESGLPKLPVPPLQ     71 - 140
QTLATYLQCMRHLVSEEQFRKSQAIVQQFGAPGGLGETLQQKLLERQEKTANWVSEYWLNDMYLNNRLAL    141 - 210
PVNSSPAVIFARQHFPGTDDQLRFAASLISGVLSYKALLDSHSIPTDCAKGQLSGQPLCMKQYYGLFSSY    211 - 280
RLPGHTQDTLVAQNSSIMPEPEHVIVACCNQFFVLDVVINFRRLSEGDLFTQLRKIVKMASNEDERLPPI    281 - 350
GLLTSDGRSEWAEARTVLVKDSTNRDSLDMIERCICLVCLDAPGGVELSDTHRALQLLHGGGYSKNGANR    351 - 420
WYDKSLQFVVGRDGTCGVVCEHSPFDGIVLVQCTEHLLKHVTQSSRKLIRADSVSELPAPRRLRWKCSPE    421 - 490
IQGHLASSAEKLQRIVKNLDFIVYKFDNYGKTFIKKQKCSPDAFIQVALQLAFYRLHRRLVPTYESASIR    491 - 560
RFQEGRVDNIRSATPEALAFVRAVTDHKAAVPASEKLLLLKDAIRAQTAYTVMAITGMAIDNHLLALREL    561 - 630
ARAMCKELPEMFMDETYLMSNRFVLSTSQVPTTTEMFCCYGPVVPNGYGACYNPQPETILFCISSFHSCK    631 - 700
ETSSSKFAKAVEESLIDMRDLCSLLPPTESKPLATKEKATRPSQGHQP                          701 - 748
//

Text Mined References (92)

PMID Year Title
26854842 2016 Polymorphic variation in CHAT gene modulates general cognitive ability: An association study with random student cohort.
26789281 2016 Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family.
26080897 2015 Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.
25730470 2015 Association of the choline acetyltransferase gene with responsiveness to acetylcholinesterase inhibitors in Alzheimer's disease.
25405505 2014 Adolescent, but not adult, binge ethanol exposure leads to persistent global reductions of choline acetyltransferase expressing neurons in brain.
24844149 2014 Nuclear 82-kDa choline acetyltransferase decreases amyloidogenic APP metabolism in neurons from APP/PS1 transgenic mice.
24076142 2013 Determination of allelic expression of SNP rs1880676 in choline acetyltransferase gene in HeLa cells.
23731954 2013 Improvement of cognitive function and physical activity of aging mice by human neural stem cells over-expressing choline acetyltransferase.
23242284 2013 Synaptic proteins and choline acetyltransferase loss in visual cortex in dementia with Lewy bodies.
22683430 2012 Subcellular distribution of choline acetyltransferase by immunogold electron microscopy in non-neuronal cells: placenta, airways and murine embryonic stem cells.
22483691 2012 Presence of ChAT mRNA and a very marked ?7nAChR immunoreaction in the synovial lining layer of the knee joint.
22449376 2012 Prevention of age-related memory deficit in transgenic mice by human choline acetyltransferase.
21948486 2012 Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
21883924 2011 Genetic variants in the choline acetyltransferase (ChAT) gene are modestly associated with normal cognitive function in the elderly.
21786365 2011 Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
21691765 2011 Cholinergic imbalance in the multiple sclerosis hippocampus.
21602657 Choline acetyltransferase 2384G>a polymorphism and the risk of Alzheimer disease.
21507424 2011 Genetic variation in the choline O-acetyltransferase gene in depression and Alzheimer's disease: the VITA and Milano studies.
21382474 2011 Peripheral type of choline acetyltransferase: biological and evolutionary implications for novel mechanisms in cholinergic system.
21163949 2011 Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20560540 2010 Redesign of cosubstrate specificity and identification of important residues for substrate binding to hChAT.
20468060 2010 Genetic pathway-based hierarchical clustering analysis of older adults with cognitive complaints and amnestic mild cognitive impairment using clinical and neuroimaging phenotypes.
20383528 2010 Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20227257 2011 Polymorphisms in the platelet-specific collagen receptor GP6 are associated with risk of nonfatal myocardial infarction in Caucasians.
20147892 2010 Convergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence.
20100532 2010 Involvement of histone acetylation in the regulation of choline acetyltransferase gene in NG108-15 neuronal cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19776575 2009 Choline acetyltransferase activity in vascular dementia and stroke.
19711100 2009 ChAT and NOS in human myenteric neurons: co-existence and co-absence.
19156168 2009 Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18780301 2009 Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine.
18603262 2009 Genetic risk factors and markers for Alzheimer's disease and/or depression in the VITA study.
18562794 2008 Evaluation of choline acetyltransferase gene polymorphism (2384 G/A) in Alzheimer's disease and mild cognitive impairment.
18559515 2008 Activated cholinergic signaling provides a target in squamous cell lung carcinoma.
18379437 2008 Cholinergic neuronal and axonal abnormalities are present early in aging and in Alzheimer disease.
18322398 2008 Galanin hyperinnervation upregulates choline acetyltransferase expression in cholinergic basal forebrain neurons in Alzheimer's disease.
18165968 2008 Identification of pharmacogenetic markers in smoking cessation therapy.
17503482 2007 Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response.
17503475 2007 Alzheimer's disease: case-control association study of polymorphisms in ACHE, CHAT, and BCHE genes in a Sardinian sample.
17378730 2007 Real-time multiplex PCR assay for genotyping of three apolipoprotein E alleles and two choline acetyltransferase alleles with three hybridization probes.
17373692 2007 No evidence for association between 19 cholinergic genes and bipolar disorder.
17144655 2006 Substrate binding and catalytic mechanism of human choline acetyltransferase.
16480703 2006 ApoE-epsilon 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease.
16468020 2006 The distribution pattern of pathology and cholinergic deficits in amygdaloid complex in Alzheimer's disease and dementia with Lewy bodies.
16424819 2006 A single nucleotide polymorphism in CHAT influences response to acetylcholinesterase inhibitors in Alzheimer's disease.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16223550 2006 Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease.
15913843 2006 Lewy body disease: thalamic cholinergic activity related to dementia and parkinsonism.
15690550 2005 Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15381704 2004 Protein kinase C isoforms differentially phosphorylate human choline acetyltransferase regulating its catalytic activity.
15276243 2004 Choline acetyltransferase G +4 A polymorphism confers a risk for Alzheimer's disease in concert with Apolipoprotein E epsilon4.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14514417 2003 Choline acetyltransferase-containing neurons in the human parietal neocortex.
12770689 2003 Lack of association between a single nucleotide polymorphism within the choline acetyltransferase gene and patients with Alzheimer's disease.
12759818 2003 Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.
12756141 2003 Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
12637523 2003 Identification of a novel nuclear localization signal common to 69- and 82-kDa human choline acetyltransferase.
12628465 2003 Expression and function of the non-neuronal cholinergic system in endothelial cells.
12609506 2003 Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.
12486117 2003 Phosphorylation of 69-kDa choline acetyltransferase at threonine 456 in response to amyloid-beta peptide 1-42.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12401548 2002 Identification of a single nucleotide polymorphism in the choline acetyltransferase gene associated with Alzheimer's disease.
12393272 2002 Synergistic activation of the human choline acetyltransferase gene by c-Myb and C/EBPbeta.
11595752 2001 A novel untranslated 'exon H' of the human choline acetyltransferase gene in placenta.
11172068 2001 Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
10861222 2000 Expression, purification and characterization of recombinant human choline acetyltransferase: phosphorylation of the enzyme regulates catalytic activity.
10692442 2000 Chat, a Cas/HEF1-associated adaptor protein that integrates multiple signaling pathways.
10594838 1999 Choline acetyltransferase: the structure, distribution and pathologic changes in the central nervous system.
10369388 1999 Novel, testis-specific mRNA transcripts encoding N-terminally truncated choline acetyltransferase.
9073174 1997 Human choline acetyltransferase mRNAs with different 5'-region produce a 69-kDa major translation product.
8515278 1993 Comparison of the promoter region of the human and porcine choline acetyltransferase genes: localization of an important enhancer region.
8479291 1993 Multiple mRNA species of choline acetyltransferase from rat spinal cord.
8071310 1994 Functional identification of a vesicular acetylcholine transporter and its expression from a "cholinergic" gene locus.
8057782 1994 Trans-activation by thyroid hormone receptors of the 5' flanking region of the human ChAT gene.
7682855 1993 Identification and analysis of the human choline acetyltransferase gene promoter.
7616604 1995 Human choline acetyltransferase gene: localization of alternative first exons.
3480542 1987 cDNA cloning and complete sequence of porcine choline acetyltransferase: in vitro translation of the corresponding RNA yields an active protein.
3183663 1988 Conservation of amino acid sequences between human and porcine choline acetyltransferase.
3086876 1986 Cloning of Drosophila choline acetyltransferase cDNA.
2004764 1991 Localization of a 900-bp-long fragment of the human choline acetyltransferase gene to 10q11.2 by nonradioactive in situ hybridization.
1840566 1991 Human choline acetyltransferase gene maps to region 10q11-q22.2 by in situ hybridization.
1784419 1991 Isolation and sub-chromosomal localization of a DNA fragment of the human choline acetyltransferase gene.
1400357 1992 Gene expression of mouse choline acetyltransferase. Alternative splicing and identification of a highly active promoter region.
1388731 1992 Two mRNAs are transcribed from the human gene for choline acetyltransferase.
1339386 1992 Human choline acetyltransferase (CHAT): partial gene sequence and potential control regions.
1337937 1992 A complementary DNA for human choline acetyltransferase induces two forms of enzyme with different molecular weights in cultured cells.