full name
choline O-acetyltransferase

synonyms
CHOACTASE, CMS1A, CMS1A2, CHAT, ENSG00000070748

HGNC
HGNC:1912

Entrez Gene
Gene:1103

ENSEMBL
ENSG00000070748

location
chr: 10
start: 50817141
stop: 50873150
strand: +

OMIM
OMIM:118490: CHAT (Autosomal recessive inheritance)
OMIM:254210: Myasthenic syndrome, congenital, 6, presynaptic

transcripts
ENST00000339797.1
ENST00000351556.3
ENST00000395559.2
ENST00000395562.2
ENST00000337653.2

pathways
Acetylcholine Neurotransmitter Release Cycle [NCBI:1268773] [REACTOME:R-HSA-264642] [PUBMED:18029057]
Cholinergic synapse [NCBI:217716] [KEGG:hsa04725] [PUBMED:20060019] [PUBMED:11283752] [PUBMED:15165747] [PUBMED:12893537] [PUBMED:11738031] [PUBMED:21550798] [PUBMED:19712465] [PUBMED:12690458] [PUBMED:12436417] [PUBMED:19378880] [PUBMED:11923408] [PUBMED:20446119]
Glycerophospholipid biosynthesis [NCBI:1270054] [REACTOME:R-HSA-1483206] [PUBMED:21220505] [PUBMED:19703651] [PUBMED:20823909] [PUBMED:21683693] [PUBMED:21382416] [PUBMED:21704024]
Glycerophospholipid metabolism [NCBI:82989] [KEGG:hsa00564] [PUBMED:14663079] [PUBMED:15522832] [PUBMED:10938271] [PUBMED:10092508] [PUBMED:1649829] [PUBMED:10542045] [PUBMED:1512203] [PUBMED:12431977]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Neuronal System [NCBI:1268763] [REACTOME:R-HSA-112316]
Neurotransmitter Release Cycle [NCBI:1268768] [REACTOME:R-HSA-112310] [PUBMED:15217342] [PUBMED:16819626] [PUBMED:17880890] [PUBMED:16865347]
Phospholipid metabolism [NCBI:1270053] [REACTOME:R-HSA-1483257] [PUBMED:9242906]
Synthesis of PC [NCBI:1270060] [REACTOME:R-HSA-1483191] [PUBMED:12221122] [PUBMED:12216837]
Transmission across Chemical Synapses [NCBI:1268766] [REACTOME:R-HSA-112315]