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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]
CHAT (Choline O-Acetyltransferase) is a Protein Coding gene. Diseases associated with CHAT include Myasthenic Syndrome, Congenital, 6, Presynaptic and Aspiration Pneumonia. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and choline O-acetyltransferase activity. An important paralog of this gene is CRAT.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH10J049610 | Promoter | 1.1 | EPDnew Ensembl | 600.7 | +1.1 | 1106 | 0.8 | PRDM10 ZIC2 EZH2 SP2 ZBTB48 ZBTB26 ZBTB17 ZFHX2 POLR2A ZNF335 | CHAT NONHSAG005873.2 SLC18A3 ERCC6 | |
GH10J049612 | Promoter/Enhancer | 1 | EPDnew Ensembl ENCODE | 600.7 | +4.2 | 4215 | 1 | CTCF KDM1A EZH2 KLF9 SP2 KLF1 RAD21 GLIS2 | CHAT NONHSAG005873.2 SLC18A3 piR-35674-048 C10orf53 | |
GH10J049608 | Promoter | 0.4 | EPDnew | 600.7 | -0.1 | -70 | 0.1 | EZH2 | CHAT NONHSAG005873.2 SLC18A3 piR-50437-050 ERCC6 | |
GH10J049645 | Enhancer | 0.5 | Ensembl | 12.1 | +36.8 | 36805 | 1.4 | ZIC2 MNT SPI1 RAD21 MYC MAX CTCF | SLC18A3 CHAT piR-35674-048 C10orf53 | |
GH10J049567 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE | 5.6 | -40.3 | -40331 | 2.5 | CREB1 RELA CEBPB RUNX3 FOS CHD2 JUN RCOR1 TCF12 JUND | ERCC6 SLC18A3 CHAT PGBD3 lnc-CHAT-1 HMGB1P50 piR-50437-050 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004102 | choline O-acetyltransferase activity | TAS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS | 10861222 |
GO:0005737 | cytoplasm | TAS,IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0043005 | neuron projection | IBA | 21873635 |
GO:0045202 | synapse | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis | ||
2 | Neurotransmitter Release Cycle | ||
3 | Metabolism |
.40
|
|
4 | Transmission across Chemical Synapses |
.62
|
|
5 | Circadian entrainment |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006656 | phosphatidylcholine biosynthetic process | TAS | -- |
GO:0007269 | neurotransmitter secretion | TAS | -- |
GO:0007274 | neuromuscular synaptic transmission | IBA | 21873635 |
GO:0008292 | acetylcholine biosynthetic process | IBA | 21873635 |
GO:0042136 | neurotransmitter biosynthetic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Choline | Approved | Nutra | Enzyme, substrate | 223 | ||
Donepezil | Approved | Pharma | 317 | |||
Nicotine | Approved | Pharma | Antagonist, Activator, Activation, Target, inhibitor | 1518 | ||
Olanzapine | Approved, Investigational | Pharma | Antagonist, Agonist, Full agonist, Inverse agonist | 442 | ||
Acetylcholine | Approved, Investigational | Pharma | Agonist, Full agonist | 883 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHAT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CHAT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHAT 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Chat 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Chat 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CHAT 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CHAT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHAT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CHAT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chat 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | chat 30 31 |
|
OneToMany | |
CHAT (2 of 2) 31 |
|
OneToMany | |||
zgc64220 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002370 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cha 30 31 32 |
|
OneToOne | |
CG5122 32 |
|
|
|||
CG5265 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | cha-1 30 31 32 |
|
OneToOne | |
B0395.3 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CAT2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14198 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
641659 | Uncertain Significance: Familial infantile myasthenia | 49,662,740(+) | A/C | MISSENSE_VARIANT | |
642070 | Uncertain Significance: Familial infantile myasthenia | 49,649,510(+) | C/T | MISSENSE_VARIANT | |
642200 | Uncertain Significance: Familial infantile myasthenia | 49,662,786(+) | C/T | INTRON_VARIANT | |
645424 | Uncertain Significance: Familial infantile myasthenia | 49,651,922(+) | A/C | MISSENSE_VARIANT | |
646702 | Uncertain Significance: Familial infantile myasthenia | 49,614,365(+) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1348586 | CNV | insertion | 17803354 |
nsv1042677 | CNV | loss | 25217958 |
nsv1134007 | CNV | deletion | 24896259 |
nsv1145454 | CNV | deletion | 24896259 |
nsv510217 | OTHER | sequence alteration | 20534489 |
nsv550819 | CNV | loss | 21841781 |
nsv950954 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myasthenic syndrome, congenital, 6, presynaptic |
|
|
aspiration pneumonia |
|
|
central sleep apnea |
|
|
gastroesophageal reflux |
|
|
apnea, central sleep |
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|