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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 **91 - 100** of **186** in total

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DO ID	Disease Name	Source
DOID:14250	Down syndrome	DisGeNET
DOID:14323	Marfan syndrome	DisGeNET
DOID:14330	Parkinson's disease	DisGeNET
DOID:14402	critical illness polyneuropathy	DisGeNET
DOID:1443	cerebral degeneration	DisGeNET
DOID:14445	chronic closed-angle glaucoma	DisGeNET
DOID:14525	Reye syndrome	DisGeNET
DOID:1470	major depressive disorder	DisGeNET DisGeNET
DOID:14717	centronuclear myopathy	DisGeNET
DOID:14784	olivopontocerebellar atrophy	DisGeNET

The Human Phenotype Ontology

Displaying entries **61 - 70** of 75 in total

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HPO ID	HPO Term
HP:0003701	Proximal muscle weakness
HP:0004661	Frontalis muscle weakness
HP:0004885	Episodic respiratory distress
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness
HP:0005943	Respiratory arrest
HP:0007178	Motor polyneuropathy
HP:0008443	Neuropathic spinal arthropathy
HP:0009053	Distal lower limb muscle weakness
HP:0010307	Stridor
HP:0010536	Central sleep apnea

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 **51 - 60** of 71 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Aotus nancymaae	105734592		AOTNA37980
Phascolarctos cinereus	110215361		PHACI10365
Saimiri boliviensis boliviensis	101042797		SAIBB16732
Jaculus jaculus	101616925		JACJA09458
Rhinolophus ferrumequinum	117035757		RHIFE20855
Taeniopygia guttata	100231848		TAEGU27213
Ficedula albicollis	101817021		FICAL01139
Rhinopithecus bieti	108537812		RHIBE23463
Rhinopithecus roxellana	104677712		RHIRO30217
Podarcis muralis	114596702		PODMU36166

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Last updated: August 19, 2024