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CHAT - choline acetyltransferase
Entrez Gene Name: choline acetyltransferase
Synonyms: B230380D24Rik, CHAT, CHOACTase, CHOLINE ACETYLTRANSFERASE, CMS1A, CMS1A2

Gene Summary

  • Human (1103): 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 disease. 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]

Cell Regulation

Regulates:
  • acetylcholine
  • neurotransmitter
View all 4 in IPA
Regulated by:
  • Ngf
  • quinolinic acid
  • APP
View all 73 in IPA
Binds:
  • MIR300 (includes EG:723833)
  • MIRN330
  • MIR211 (includes EG:406993)
View all 11 in IPA
Role in cell:
  • synaptic transmission
  • establishment
  • formation
View all 7 in IPA
Disease:
  • Alzheimer's disease
  • familial infantile myasthenia gravis 2
  • dementia
View all 11 in IPA

Biological Process

acetylcholine biosynthetic process, adult walking behavior, antral ovarian follicle growth, dendrite development, establishment of synaptic specificity at neuromuscular junction, memory, muscle organ development, neuromuscular synaptic transmission, neuron differentiation, neurotransmitter biosynthetic process, response to drug, response to ethanol, response to hypoxia, response to nutrient, rhythmic behavior, rhythmic excitation, synaptic transmission

Cellular Components

cell soma, cytoplasm, nucleus, synaptosome

Literature References

  • 15502875John B, Enright AJ, Aravin A, Tuschl T, Sander C, Marks DS. Human MicroRNA targets.PLoS Biol 2004 11 1;2(11):e363
  • 17522308von Engelhardt J, Eliava M, Meyer AH, Rozov A, Monyer H. Functional characterization of intrinsic cholinergic interneurons in the cortex.J Neurosci 2007 May 23;27(21):5633-42
  • 9639663Connor B, Dragunow M. The role of neuronal growth factors in neurodegenerative disorders of the human brain.Brain Res Brain Res Rev 1998 Jun 01;27(1):1-39
  • View 509 categorized literature findings and their references in IPA

Molecular Functions

acyltransferase activity, choline binding, choline O-acetyltransferase activity, transferase activity

Protein Domains

Choline O-acetyltransferase, enzyme

Subcellular Locations

axons, cell body, cytoplasm, membrane processes, nucleus, perikaryon, perinuclear region