CHAT (choline O-acetyltransferase)

2008-09-01 Affiliation

Identity

HGNC

CHAT

LOCATION

10q11.23

LOCUSID

1103

ALIAS

CHOACTASE,CMS1A,CMS1A2,CMS6

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1103
MIM: 118490
HGNC: 1912
Ensembl: ENSG00000070748

Variants:

dbSNP: 1103
ClinVar: 1103
TCGA: ENSG00000070748
COSMIC: CHAT

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000070748	ENST00000337653	P28329
ENSG00000070748	ENST00000339797	P28329
ENSG00000070748	ENST00000351556	P28329
ENSG00000070748	ENST00000395559	P28329
ENSG00000070748	ENST00000395562	P28329
ENSG00000070748	ENST00000466590	R4GN13
ENSG00000070748	ENST00000638282	A0A1W2PRG4
ENSG00000070748	ENST00000640822	A0A1W2PP46

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Glycerophospholipid metabolism	KEGG	ko00564
Glycerophospholipid metabolism	KEGG	hsa00564
Cholinergic synapse	KEGG	hsa04725
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Release Cycle	REACTOME	R-HSA-112310
Acetylcholine Neurotransmitter Release Cycle	REACTOME	R-HSA-264642
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Phospholipid metabolism	REACTOME	R-HSA-1483257
Glycerophospholipid biosynthesis	REACTOME	R-HSA-1483206
Synthesis of PC	REACTOME	R-HSA-1483191

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA443319	Alzheimer Disease	Disease	ClinicalAnnotation	associated	PD	25730470
PA447216	Schizophrenia	Disease	ClinicalAnnotation	associated	PD	17503482
PA449394	donepezil	Chemical	ClinicalAnnotation	associated	PD	25730470
PA449726	galantamine	Chemical	ClinicalAnnotation	associated	PD	25730470
PA450688	olanzapine	Chemical	ClinicalAnnotation	associated	PD	17503482
PA451262	rivastigmine	Chemical	ClinicalAnnotation	associated	PD	25730470

References

Pubmed ID	Year	Title	Citations
36727317	2023	Genetic associations in CHAT and COL11A1 with primary angle-closure glaucoma susceptibility: A systematic review and meta-analysis.	0
37813167	2023	Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in the human infant dorsal motor nucleus of the Vagus (DMNV), and alterations according to sudden infant death syndrome (SIDS) category.	0
36727317	2023	Genetic associations in CHAT and COL11A1 with primary angle-closure glaucoma susceptibility: A systematic review and meta-analysis.	0
37813167	2023	Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in the human infant dorsal motor nucleus of the Vagus (DMNV), and alterations according to sudden infant death syndrome (SIDS) category.	0
34597185	2021	Coronary vasodilation mediated by T cells expressing choline acetyltransferase.	2
34743284	2021	Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas.	9
34597185	2021	Coronary vasodilation mediated by T cells expressing choline acetyltransferase.	2
34743284	2021	Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas.	9
28090804	2018	Choline acetyltransferase may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study.	2
29170094	2018	The Choline Acetyltransferase (CHAT) Gene is Associated with Parahippocampal and Hippocampal Structure and Short-term Memory Span.	0
29759072	2018	CHAT gene polymorphism rs3810950 is associated with the risk of Alzheimer's disease in the Czech population.	3
30399154	2018	Genotype-ocular biometry correlation analysis of eight primary angle closure glaucoma susceptibility loci in a cohort from Northern China.	7
28090804	2018	Choline acetyltransferase may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study.	2
29170094	2018	The Choline Acetyltransferase (CHAT) Gene is Associated with Parahippocampal and Hippocampal Structure and Short-term Memory Span.	0
29759072	2018	CHAT gene polymorphism rs3810950 is associated with the risk of Alzheimer's disease in the Czech population.	3

Citation

Dessen P

CHAT (choline O-acetyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/50359