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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 **11 - 20** of **186** in total

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DO ID	Disease Name	Source
DOID:0060261	congenital ptosis	DisGeNET
DOID:0060891	Parkinson's disease 19A	DisGeNET
DOID:0060896	Parkinson's disease 23	DisGeNET
DOID:0070313	thiamine deficiency disease	DisGeNET DisGeNET
DOID:0070318	dry beriberi	DisGeNET
DOID:0080156	X-linked adrenal hypoplasia congenita	DisGeNET DisGeNET
DOID:0080348	Alzheimer's disease 1	DisGeNET
DOID:0090103	Huntington's disease-like 1	DisGeNET
DOID:0090104	Huntington's disease-like 2	DisGeNET
DOID:0110035	Alzheimer's disease 2	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **41 - 50** of 75 in total

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HPO ID	HPO Term
HP:0002515	Waddling gait
HP:0002747	Respiratory insufficiency due to muscle weakness
HP:0002751	Kyphoscoliosis
HP:0002804	Arthrogryposis multiplex congenita
HP:0002870	Obstructive sleep apnea
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress
HP:0002882	Sudden episodic apnea
HP:0003306	Spinal rigidity
HP:0003324	Generalized muscle weakness
HP:0003325	Limb-girdle muscle weakness

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 **11 - 20** of 71 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Oreochromis niloticus	100690211		ORENI13583
Sparus aurata	115596187		SPAAU11322
Xenopus laevis	108696296	Xenbase:XB-GENE-17342166
Xenopus laevis	108703349	Xenbase:XB-GENE-17342167
Xenopus tropicalis	100485221	Xenbase:XB-GENE-984174
Chrysemys picta bellii	101946401		CHRPI13571
Crocodylus porosus	109324367		CROPO14420
Pseudonaja textilis	113445394		PSETE18293
Meleagris gallopavo	100543253		MELGA12365
Serinus canaria	103814032		SERCA07911

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Last updated: August 19, 2024