CHAT choline O-acetyltransferase [Homo sapiens (human)]
| Gene Symbol | CHAT |
| Entrez Gene ID | 1103 |
| Full Name | choline O-acetyltransferase |
| Synonyms | CHOACTASE, CMS1A, CMS1A2 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
10 10q11.2 |
| 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]. |
| Disorder | MIM: 118490 Myasthenic syndrome, congenital, associated with episodic apnea, |
| mRNA | NM_020984, 188595667 |
| Protein | NP_066264, 188595668 |
| Product | choline O-acetyltransferase isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_020549, 188595669 |
| Protein | NP_065574, 188595670 |
| Product | choline O-acetyltransferase isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_020985, 188595671 |
| Protein | NP_066265, 188595672 |
| Product | choline O-acetyltransferase isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_020986, 188595683 |
| Protein | NP_066266, 188595684 |
| Product | choline O-acetyltransferase isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001142929, 218931220 |
| Protein | NP_001136401, 218931221 |
| Product | choline O-acetyltransferase isoform 1 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001142933, 218931223 |
| Protein | NP_001136405, 218931224 |
| Product | choline O-acetyltransferase isoform 3 |
| RefSeq Status | REVIEWED |
| mRNA | NM_001142934, 218931225 |
| Protein | NP_001136406, 218931226 |
| Product | choline O-acetyltransferase isoform 1 |
| RefSeq Status | REVIEWED |
| hsa00564 | Glycerophospholipid metabolism |
WikiPathways
| WP528 | Acetylcholine Synthesis |
| WP550 | Biogenic Amine Synthesis |
Reactome
| REACT_13685 | Synaptic Transmission |
| REACT_13477 | Transmission across Chemical Synapses |
| REACT_15309 | Acetylcholine Neurotransmitter Release Cycle |
| REACT_13723 | Neurotransmitter Release Cycle |
| Homo sapiens (human) | CHAT | NP_065574.3 |
| Canis lupus familiaris (dog) | CHAT | XP_543902.2 |
| Bos taurus (cattle) | CHAT | XP_001788265.1 |
| Mus musculus (house mouse) | Chat | NP_034021.1 |
| Rattus norvegicus (Norway rat) | Chat | XP_224626.4 |
| Gallus gallus (chicken) | CHAT | NP_989941.1 |
| Danio rerio (zebrafish) | chat | NP_001124191.1 |
| Drosophila melanogaster (fruit fly) | Cha | NP_477004.5 |
| Caenorhabditis elegans | unc-17 | NP_001023603.1 |
| ID | Name | Evidence |
| GO:0007268 | synaptic transmission | TAS |
| GO:0007269 | neurotransmitter secretion | TAS |
| GO:0007274 | neuromuscular synaptic transmission | IEA |
| GO:0007517 | muscle organ development | IEA |
| GO:0007529 | establishment of synaptic specificity at neuromuscular junction | IEA |
| GO:0007622 | rhythmic behavior | IEA |
| GO:0007628 | adult walking behavior | IEA |
| GO:0016358 | dendrite development | IEA |
| GO:0030182 | neuron differentiation | IEA |
| GO:0042136 | neurotransmitter biosynthetic process | IEA |
| GO:0043179 | rhythmic excitation | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | TAS |
| GO:0005737 | cytoplasm | TAS |
| GO:0005739 | mitochondrion | IEA |
| GO:0005829 | cytosol | EXP |
| GO:0030424 | axon | IEA |
| GO:0043025 | neuronal cell body | IEA |
Function
| ID | Name | Evidence |
| GO:0004102 | choline O-acetyltransferase activity | EXP |
| GO:0008415 | acyltransferase activity | IEA |
| GO:0016740 | transferase activity | IEA |
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