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GENERAL INFORMATION

Gene name

 CHAT

Gene description

 Choline O-acetyltransferase

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (placenta)
GTEx:Tissue enhanced (caudate)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in a subset of cells in placental stroma and gastrointestinal tract.

DATA RELIABILITY

Data reliability
description

 Antibody staining in cells/structures not annotated, view images.

Reliability score

 Supported based on 2 antibodies.
HPA048547 , CAB002313
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (placenta)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (caudate)

GENE INFORMATION

Gene name

 CHAT

Synonyms

Description

 Choline O-acetyltransferase (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 10

Cytoband

 q11.23

Chromosome location (bp)

 49609095 - 49665104

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000070748 (version 83.38)

Entrez gene

 1103

UniProt

 P28329 (UniProt - Evidence at protein level)

neXtProt

 NX_P28329

Antibodypedia

 CHAT antibodies

PROTEIN BROWSER
CHAT-001
CHAT-007
CHAT-201
CHAT-202
CHAT-203

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CHAT-001
ENSP00000337103
ENST00000337653
P28329 [Direct mapping]
Choline O-acetyltransferase
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001547 [antral ovarian follicle growth]
GO:0001666 [response to hypoxia]
GO:0004102 [choline O-acetyltransferase activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006656 [phosphatidylcholine biosynthetic process]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0007584 [response to nutrient]
GO:0007613 [memory]
GO:0008292 [acetylcholine biosynthetic process]
GO:0016746 [transferase activity, transferring acyl groups]
GO:0033265 [choline binding]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0042493 [response to drug]
GO:0043005 [neuron projection]
GO:0044281 [small molecule metabolic process]
GO:0045471 [response to ethanol]
GO:0046474 [glycerophospholipid biosynthetic process]
Show all
 748 aa
82.5 kDa 		No 0
CHAT-007
ENSP00000343486
ENST00000339797
P28329 [Direct mapping]
Choline O-acetyltransferase
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004102 [choline O-acetyltransferase activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006656 [phosphatidylcholine biosynthetic process]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0016746 [transferase activity, transferring acyl groups]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0046474 [glycerophospholipid biosynthetic process]
Show all
 630 aa
70.4 kDa 		No 0
CHAT-201
ENSP00000345878
ENST00000351556
P28329 [Direct mapping]
Choline O-acetyltransferase
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004102 [choline O-acetyltransferase activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006656 [phosphatidylcholine biosynthetic process]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0016746 [transferase activity, transferring acyl groups]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0046474 [glycerophospholipid biosynthetic process]
Show all
 630 aa
70.4 kDa 		No 0
CHAT-202
ENSP00000378926
ENST00000395559
P28329 [Direct mapping]
Choline O-acetyltransferase
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004102 [choline O-acetyltransferase activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006656 [phosphatidylcholine biosynthetic process]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0016746 [transferase activity, transferring acyl groups]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0046474 [glycerophospholipid biosynthetic process]
Show all
 630 aa
70.4 kDa 		No 0
CHAT-203
ENSP00000378929
ENST00000395562
P28329 [Direct mapping]
Choline O-acetyltransferase
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004102 [choline O-acetyltransferase activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006644 [phospholipid metabolic process]
GO:0006656 [phosphatidylcholine biosynthetic process]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0016746 [transferase activity, transferring acyl groups]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0044281 [small molecule metabolic process]
GO:0046474 [glycerophospholipid biosynthetic process]
Show all
 666 aa
74.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.