Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

2.3.1.6

Official Name

choline O-acetyltransferase

Name from literature

choline acetyl transferase

Pathway from literature

synthesis of the neurotransmitter acetylcholine ( ACh )

Pathway from KEGG

Lipid Metabolism; Glycerophospholipid metabolism; map00564

Organisms

Human (9606)

Genome localization

10q11.2[1103 ],

Comments

Propanoyl-CoA can act, more slowly, in place of acetyl-CoA.

Rate-limiting Description

"Effect of sodium chloride on changing the rate-limiting step in the human placental choline acetyltransferase reaction." (566752)

Regulatory Information

Upstream transcription factor

4609;1051

Regulatory type

Detail

transcriptional factor;c-Myb(4609),C/EBPbeta(1051)

"Results suggest that c-Myb and C/EBPbeta act synergistically to increase choline acetyltransferase gene transcription in the nervous system." (12393272)

key enzyme;

"The gene encoding choline acetyltransferase (ChAT), a key enzyme in cholinergic function, is a candidate gene conferring risk for AD." (16480703)

transcriptional factor;c-Myb(4609),C/EBPbeta(1051)

"Results suggest that c-Myb and C/EBPbeta act synergistically to increase choline acetyltransferase gene transcription in the nervous system." (12393272)

phosphorylation;PKC

"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)" (15381704)

Gene ontology

Gene ontology

GO:0004102 (F) choline O-acetyltransferase activity [Q6LEN5, Q6LBL1, P28329, Q6LEN6 ];
GO:0005634 (C) nucleus [P28329 ];
GO:0042136 (P) neurotransmitter biosynthetic process [P28329 ];
GO:0005737 (C) cytoplasm [P28329 ];

Disease relevance

Disease

Defects in CHAT are the cause of congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210];
formerly known as familial infantile myasthenia gravis 2 (FIMG2). CMSEA is 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 [P28329 ];

Links

SwissProt

P28329; Q6LBL1; Q6LEN5; Q6LEN6

Entrez Gene

1103

HPRD

07510



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  Last Modified: 2009-03-24  
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