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choline O-acetyltransferase

Summary

Gene Symbol

CHAT

Organism

Homo sapiens (human)

External Links

NCBI Gene

1103

HGNC

1912

KEGG Gene ID

hsa:1103

PubChem

1103

Alliance of Genome Resources

HGNC:1912

Annotation

Keyword

3D-structure
Acyltransferase
Alternative splicing
Congenital myasthenic syndrome
Direct protein sequencing
Disease variant
Neurotransmitter biosynthesis
Phosphoprotein
Reference proteome

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q6LEN5
Q6LEN6
P28329

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
acetylcholine biosynthetic process	IBA
neuromuscular synaptic transmission	IBA
phosphatidylcholine biosynthetic process
neurotransmitter transport

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

acetylcholine metabolic process [inference]

acetylcholine biosynthetic process

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

organonitrogen compound biosynthetic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

acetate ester biosynthetic process [inference]

acetylcholine biosynthetic process

organonitrogen compound biosynthetic process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

acetate ester metabolic process [inference]

acetylcholine metabolic process [inference]

acetylcholine biosynthetic process

acetate ester biosynthetic process [inference]

acetylcholine biosynthetic process

organonitrogen compound metabolic process [inference]

acetylcholine metabolic process [inference]

acetylcholine biosynthetic process

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

organonitrogen compound biosynthetic process [inference]

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

acetate ester biosynthetic process [inference]

acetylcholine biosynthetic process

organonitrogen compound biosynthetic process [inference]

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

neuromuscular synaptic transmission

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

phosphatidylcholine metabolic process [inference]

phosphatidylcholine biosynthetic process

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylcholine biosynthetic process

localization [inference]

establishment of localization [inference]

transport [inference]

neurotransmitter transport

biological regulation [inference]

regulation of biological process [inference]

signaling [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

neuromuscular synaptic transmission

Displaying **all 5** entries
GO Term	Evidence Code	PMID
nucleus		10861222
cytosol
cytoplasm	IBA
neuron projection	IBA
synapse	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell junction [inference]

synapse

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

Displaying 1 entry
GO Term	Evidence Code	PMID
choline O-acetyltransferase activity	IBA TAS

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity [inference]

acyltransferase activity, transferring groups other than amino-acyl groups [inference]

O-acyltransferase activity [inference]

O-acetyltransferase activity [inference]

choline O-acetyltransferase activity

acetyltransferase activity [inference]

O-acetyltransferase activity [inference]

choline O-acetyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000070748

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00623

Name

choline O-acetyltransferase [EC:2.3.1.6]

References

Rhea

choline + acetyl-CoA

acetylcholine + CoA

Enzyme

2.3.1.6

PMID

Disease

Disease Ontology

Displaying entries **181 - 186** of **186** in total

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DO ID	Disease Name	Source
DOID:9744	type 1 diabetes mellitus	DisGeNET
DOID:9786	bulbar polio	DisGeNET
DOID:9837	hypertropia	DisGeNET
DOID:9840	esotropia	DisGeNET
DOID:9923	developmental coordination disorder	DisGeNET
DOID:9993	hypoglycemia	DisGeNET

The Human Phenotype Ontology

Displaying entries **31 - 40** of 75 in total

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HPO ID	HPO Term
HP:0001618	Dysphonia
HP:0001761	Pes cavus
HP:0002015	Dysphagia
HP:0002020	Gastroesophageal reflux
HP:0002033	Poor suck
HP:0002098	Respiratory distress
HP:0002205	Recurrent respiratory infections
HP:0002355	Difficulty walking
HP:0002392	EEG with polyspike wave complexes
HP:0002421	Poor head control

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:254210	congenital myasthenic syndrome 6
ORPHA:98914	obsolete presynaptic congenital myasthenic syndrome

PubChem Disease

GHR Health Conditions

Congenital myasthenic syndrome

MedGen Diseases

Familial infantile myasthenia

OMIM Phenotypes

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

KEGG Diseases

Congenital myasthenic syndrome

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000060
Gene Name: choline O-acetyltransferase

Ortholog

Displaying entries **1 - 10** of 71 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	24105307	WB:WBGene00000481
Drosophila melanogaster	42249	FB:FBgn0000303
Ciona intestinalis	445622		CIOIN00638
Callorhinchus milii	103181719		CALMI02473
Danio rerio	100170938	ZFIN:ZDB-GENE-080102-2	DANRE06149
Danio rerio	103171573	ZFIN:ZDB-GENE-140429-2
Astyanax mexicanus	103044316		ASTMX06615
Ictalurus punctatus	108262900		ICTPU26813
Electrophorus electricus	113581952		ELEEL28676
Gadus morhua	115560082		GADMO16433

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024