Property Summary

NCBI Gene PubMed Count 90
Grant Count 594
R01 Count 271
Funding $135,446,870.77
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 0.000

Synonym

Accession P28329 A2BDF4 A2BDF5 Q16488 Q9BQ23 Q9BQ35 Q9BQE1 CHOACTase
Symbols CMS6
CMS1A
CMS1A2
CHOACTASE

Gene

PANTHER Protein Class (2)

PDB

2FY2   2FY3   2FY4   2FY5  

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.
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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
//

Publication (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.
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