CHAT

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enriched (placenta)
GTEx:Not detected

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Supportive based on 2 antibodies.
HPA048547 , CAB002313
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (placenta)

Organ

Expression

GTEx dataset
RNA tissue category:  Not detected

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

1103

UniProt

P28329 (UniProt - Evidence at protein level)

neXtProt

NX_P28329

Antibodypedia

CHAT antibodies


PROTEIN BROWSER

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ENST00000337653
 
ENST00000339797
 
ENST00000351556
 
ENST00000395559
 
ENST00000395562
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHAT-001 ENSP00000337103
ENST00000337653
P28329
Show all »
Show » Show » 748 82.5 No 0
CHAT-007 ENSP00000343486
ENST00000339797
P28329
Show all »
Show » Show » 630 70.4 No 0
CHAT-201 ENSP00000345878
ENST00000351556
P28329
Show all »
Show » Show » 630 70.4 No 0
CHAT-202 ENSP00000378926
ENST00000395559
P28329
Show all »
Show » Show » 630 70.4 No 0
CHAT-203 ENSP00000378929
ENST00000395562
P28329
Show all »
Show » Show » 666 74.4 No 0