ACAT1

GENERAL INFORMATION

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Gene name

ACAT1

Gene description

Acetyl-CoA acetyltransferase 1

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression, with a granular pattern.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA004428 , HPA007569
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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



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ACAT1 (HGNC Symbol)

Synonyms

ACAT, THIL

Description

Acetyl-CoA acetyltransferase 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]

Chromosome

11

Cytoband

q22.3

Chromosome location (bp)

108121516 - 108147776

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000075239 (version 78.38)

Entrez gene

38

UniProt

P24752 (UniProt - Evidence at protein level)

neXtProt

NX_P24752

Antibodypedia

ACAT1 antibodies


PROTEIN BROWSER

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ENST00000265838
 
ENST00000299355
 
ENST00000527942
 
ENST00000528370
 
 
 
 


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)

ACAT1-001 ENSP00000265838
ENST00000265838
P24752
Show all »
Show » Show » 427 45.2 No 0
ACAT1-002 ENSP00000299355
ENST00000299355
G3XAB4
Show all »
Show » Show » 162 17.2 No 0
ACAT1-005 ENSP00000433568
ENST00000527942
E9PKF3
Show all »
Show » Show » 54 5.4 No 0
ACAT1-009 ENSP00000436096
ENST00000528370
E9PKF3
Show all »
Show » Show » 136 14.1 No 0