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ACAT1

GENERAL INFORMATION

Gene name

 ACAT1

Gene description

 Acetyl-CoA acetyltransferase 1

Protein class

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

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression, with a granular pattern.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA004428 , HPA007569
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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

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 38

UniProt

 P24752 (UniProt - Evidence at protein level)

neXtProt

 NX_P24752

Antibodypedia

 ACAT1 antibodies

PROTEIN BROWSER
ACAT1-001
ACAT1-002
ACAT1-005
ACAT1-009

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ACAT1-001
ENSP00000265838
ENST00000265838
P24752 [Direct mapping]
Acetyl-CoA acetyltransferase, mitochondrial
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Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
   Phobius predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001889 [liver development]
GO:0003824 [catalytic activity]
GO:0003985 [acetyl-CoA C-acetyltransferase activity]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0005759 [mitochondrial matrix]
GO:0007420 [brain development]
GO:0008152 [metabolic process]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0009725 [response to hormone]
GO:0014070 [response to organic cyclic compound]
GO:0016747 [transferase activity, transferring acyl groups other than amino-acyl groups]
GO:0019899 [enzyme binding]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042594 [response to starvation]
GO:0042803 [protein homodimerization activity]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0046950 [cellular ketone body metabolic process]
GO:0046951 [ketone body biosynthetic process]
GO:0046952 [ketone body catabolic process]
GO:0050662 [coenzyme binding]
GO:0051260 [protein homooligomerization]
GO:0060612 [adipose tissue development]
GO:0070062 [extracellular exosome]
GO:0072229 [metanephric proximal convoluted tubule development]
Show all
 427 aa
45.2 kDa 		No 0
ACAT1-002
ENSP00000299355
ENST00000299355
P24752 [Direct mapping]
Acetyl-CoA acetyltransferase, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Transferases
   Phobius predicted secreted proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0003985 [acetyl-CoA C-acetyltransferase activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0008152 [metabolic process]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016747 [transferase activity, transferring acyl groups other than amino-acyl groups]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0046950 [cellular ketone body metabolic process]
GO:0046951 [ketone body biosynthetic process]
GO:0046952 [ketone body catabolic process]
GO:0070062 [extracellular exosome]
Show all
 162 aa
17.2 kDa 		No 0
ACAT1-005
ENSP00000433568
ENST00000527942
E9PKF3 [Direct mapping]
Acetyl-CoA acetyltransferase, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0008152 [metabolic process]
GO:0016747 [transferase activity, transferring acyl groups other than amino-acyl groups]
Show all
 54 aa
5.4 kDa 		No 0
ACAT1-009
ENSP00000436096
ENST00000528370
H0YEL7 [Direct mapping]
Acetyl-CoA acetyltransferase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0008152 [metabolic process]
GO:0016747 [transferase activity, transferring acyl groups other than amino-acyl groups]
Show all
 136 aa
14.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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