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GENE AND PROTEIN SUMMARY

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Gene name

ACAT1

Description

acetyl-CoA acetyltransferase 1

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

5 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Mitochondria

Additional location(s)

 

Staining summary

Localized to the mitochondria in all three cell lines.

Reliability (APE)

High

Antibodies in assay

HPA004428, HPA007569
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Ubiquitous cytoplasmic expression, with a granular pattern.

Tissue specificity

Expressed in 80 out of 80 cell types

Reliability (APE)

High

Antibodies in assay

HPA004428, HPA007569
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 7
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 80% of the cancers

Antibodies in assay

HPA004428, HPA007569
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA004428

HPA007569

HPA004428

HPA007569

A-431 Skin High
StrongStrong
A-549 Lung High
CACO-2 Colon High
HEK 293 Embryonal kidney High
HeLa Cervix High
Hep-G2 Liver High
MCF-7 Pleural effusion High
PC-3 Bone marrow High
RT-4 Urinary bladder High
U-2 OS Bone High
StrongModerate
U-251 MG Brain High
StrongWeak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA004428 pAb
HPA007569 pAb