| URN | urn:agi-llid:1103 |
|---|---|
| Total Entities | 0 |
| Connectivity | 744 |
| Name | Chat |
| Description | choline O-acetyltransferase |
| Notes | 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] |
| Ariadne Ontology | Phospholipid biosynthesis |
|---|---|
| Secreted proteins | |
| Biofluids assayable substances |
| GO Molecular Function | choline binding |
|---|---|
| transferase activity | |
| transferase activity, transferring acyl groups | |
| choline O-acetyltransferase activity |
| GO Cellular Component | cytoplasm |
|---|---|
| mitochondrion | |
| cytosol | |
| nucleus | |
| neuron projection | |
| axon | |
| neuronal cell body |
| GO Biological Process | metabolic process |
|---|---|
| synaptic transmission | |
| neuromuscular synaptic transmission | |
| rhythmic excitation | |
| neuron differentiation | |
| neurotransmitter secretion | |
| phosphatidylcholine biosynthetic process | |
| phospholipid metabolic process | |
| glycerophospholipid biosynthetic process | |
| neurotransmitter biosynthetic process | |
| acetylcholine biosynthetic process | |
| dendrite development | |
| response to drug | |
| response to nutrient | |
| response to ethanol | |
| response to hypoxia | |
| rhythmic behavior | |
| memory | |
| adult walking behavior | |
| antral ovarian follicle growth | |
| muscle organ development | |
| small molecule metabolic process | |
| establishment of synaptic specificity at neuromuscular junction |
| Pathway | acetylcholine signaling pathway via muscarinic acetylcholine receptor |
|---|---|
| acetylcholine signaling pathway via nicotinic acetylcholine receptor |
| Group | Phospholipid biosynthesis |
|---|---|
| metabolic process | |
| synaptic transmission | |
| neuromuscular synaptic transmission | |
| rhythmic excitation | |
| neuron differentiation | |
| neurotransmitter secretion | |
| phosphatidylcholine biosynthetic process | |
| phospholipid metabolic process | |
| glycerophospholipid biosynthetic process | |
| neurotransmitter biosynthetic process | |
| acetylcholine biosynthetic process | |
| dendrite development | |
| response to drug | |
| response to nutrient | |
| response to ethanol | |
| response to hypoxia | |
| rhythmic behavior | |
| memory | |
| adult walking behavior | |
| antral ovarian follicle growth | |
| muscle organ development | |
| small molecule metabolic process | |
| establishment of synaptic specificity at neuromuscular junction | |
| choline binding | |
| transferase activity | |
| transferase activity, transferring acyl groups | |
| choline O-acetyltransferase activity | |
| cytoplasm | |
| mitochondrion | |
| cytosol | |
| nucleus | |
| neuron projection | |
| axon | |
| neuronal cell body | |
| Secreted proteins | |
| Biofluids assayable substances |
| MedScan ID | 1103 |
|---|
| Hugo ID | 1912 |
|---|
| Human chromosome position | 10q11.2 |
|---|
| LocusLink ID | 1103 |
|---|---|
| 12647 | |
| 290567 |
| Alias | CMS1A |
|---|---|
| CMS1A2 | |
| CHOACTASE | |
| choline O-acetyltransferase | |
| choline acetylase | |
| acetyl CoA:choline O-acetyltransferase | |
| B230380D24Rik | |
| choline acetyltransferase | |
| OTTHUMP00000019584 | |
| OTTHUMP00000019583 | |
| FIMG2 | |
| choline O-acetyltransferase (EC 2.3.1.6) | |
| Choline acetyl transferase | |
| ChAT | |
| B230380D24 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 118490 |
|---|---|
| 254210 |
| Unigene ID | Hs.302002 |
|---|---|
| Mm.442817 | |
| Rn.45116 |
| KEGG ID | hsa:1103 |
|---|---|
| mmu:12647 | |
| rno:290567 |
| Swiss-Prot Accession | D3DX95 |
|---|---|
| P28329 | |
| Q6LEN6 | |
| Q6LEN5 | |
| Q8BQV2 | |
| Q03059 | |
| P32738 | |
| A2BDF4 | |
| Q16488 | |
| Q9BQ23 | |
| Q9BQ35 | |
| Q9BQE1 |
| EC Number | 2.3.1.6 |
|---|
| GO ID | 0004102 |
|---|---|
| 0033265 | |
| 0008292 | |
| 0007628 | |
| 0001547 | |
| 0016358 | |
| 0007529 | |
| 0046474 | |
| 0007613 | |
| 0007274 | |
| 0007269 | |
| 0006656 | |
| 0006644 | |
| 0042493 | |
| 0045471 | |
| 0001666 | |
| 0007584 | |
| 0007622 | |
| 0043179 | |
| 0044281 | |
| 0007268 | |
| 0030424 | |
| 0005737 | |
| 0005829 | |
| 0005739 | |
| 0043025 | |
| 0005634 | |
| 0016740 | |
| 0016746 | |
| 0008152 | |
| 0007517 | |
| 0030182 | |
| 0043005 | |
| 0042136 |
| PIR ID | I52631 |
|---|
| Swiss-Prot ID | CLAT_HUMAN |
|---|
| Cell Localization | Cytoplasm |
|---|
| IPI ID | IPI00220707 |
|---|---|
| IPI00220708 | |
| IPI00305227 |
| Mouse chromosome position | 14 10.5 cM |
|---|
| Rat chromosome position | 16p16 |
|---|
| Homologene ID | 40693 |
|---|
| MGI ID | 88392 |
|---|
| RGD ID | 1304627 |
|---|
| Primary Cell Localization | Cytoplasm |
|---|