======= CHAT ======= == Gene Information == * **Official Symbol**: CHAT * **Official Name**: choline O-acetyltransferase * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1103|1103]] * **UniProt**: [[https://www.uniprot.org/uniprot/P28329|P28329]] * **Interactions**: [[https://thebiogrid.org/search.php?search=CHAT&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20CHAT|Open PubMed]] * **OMIM**: [[https://omim.org/entry/118490|Open OMIM]] == Function Summary == * **Entrez Summary**: 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]. * **UniProt Summary**: Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. {ECO:0000269|PubMed:17144655}. |Carn acyltransf| |choline O-acetyltransferase activity| |acetate ester biosynthetic process| |acetylcholine biosynthetic process| |acetylcholine metabolic process| |acetate ester metabolic process| |neuromuscular synaptic transmission| |phosphatidylcholine biosynthetic process| |neurotransmitter biosynthetic process| |hormone biosynthetic process| |phosphatidylcholine metabolic process| |neurotransmitter metabolic process| |presynapse| |neurotransmitter secretion| |signal release from synapse| |signal release| |neurotransmitter transport| |ammonium ion metabolic process| |hormone metabolic process| |glycerophospholipid biosynthetic process| |glycerolipid biosynthetic process| |phospholipid biosynthetic process| |glycerophospholipid metabolic process| |neuron projection| |regulation of neurotransmitter levels| |phospholipid metabolic process| |glycerolipid metabolic process| |chemical synaptic transmission| |anterograde trans-synaptic signaling| |trans-synaptic signaling| |synaptic signaling| |drug metabolic process| |regulation of hormone levels| |organophosphate biosynthetic process| |lipid biosynthetic process| |organophosphate metabolic process| |cellular lipid metabolic process| |secretion by cell| |export from cell| |cell-cell signaling| |secretion| |lipid metabolic process| |organonitrogen compound biosynthetic process| |establishment of localization in cell| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 15834 * **Expression level (log2 read counts)**: -6.6 {{:chemogenomics:nalm6 dist.png?nolink |}}