ACAT1 (acetyl-CoA acetyltransferase 1)

2008-03-01 Affiliation

Identity

HGNC

ACAT1

LOCATION

11q22.3

LOCUSID

ALIAS

ACAT,MAT,T2,THIL

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 38
MIM: 607809
HGNC: 93
Ensembl: ENSG00000075239

Variants:

dbSNP: 38
ClinVar: 38
TCGA: ENSG00000075239
COSMIC: ACAT1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000075239	ENST00000265838	P24752
ENSG00000075239	ENST00000265838	A0A140VJX1
ENSG00000075239	ENST00000299355	P24752
ENSG00000075239	ENST00000528370	H0YEL7
ENSG00000075239	ENST00000531813	E9PRQ6

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Fatty acid degradation	KEGG	ko00071
Synthesis and degradation of ketone bodies	KEGG	ko00072
Valine, leucine and isoleucine degradation	KEGG	ko00280
Lysine degradation	KEGG	ko00310
Tryptophan metabolism	KEGG	ko00380
Pyruvate metabolism	KEGG	ko00620
Glyoxylate and dicarboxylate metabolism	KEGG	ko00630
Propanoate metabolism	KEGG	ko00640
Butanoate metabolism	KEGG	ko00650
Terpenoid backbone biosynthesis	KEGG	ko00900
Fatty acid degradation	KEGG	hsa00071
Synthesis and degradation of ketone bodies	KEGG	hsa00072
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Lysine degradation	KEGG	hsa00310
Tryptophan metabolism	KEGG	hsa00380
Pyruvate metabolism	KEGG	hsa00620
Glyoxylate and dicarboxylate metabolism	KEGG	hsa00630
Propanoate metabolism	KEGG	hsa00640
Butanoate metabolism	KEGG	hsa00650
Terpenoid backbone biosynthesis	KEGG	hsa00900
Metabolic pathways	KEGG	hsa01100
C5 isoprenoid biosynthesis, mevalonate pathway	KEGG	hsa_M00095
C5 isoprenoid biosynthesis, mevalonate pathway	KEGG	M00095
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Ketone body metabolism	REACTOME	R-HSA-74182
Synthesis of Ketone Bodies	REACTOME	R-HSA-77111
Utilization of Ketone Bodies	REACTOME	R-HSA-77108
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Branched-chain amino acid catabolism	REACTOME	R-HSA-70895

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
24486017	2014	Tyr phosphorylation of PDP1 toggles recruitment between ACAT1 and SIRT3 to regulate the pyruvate dehydrogenase complex.	67
21791085	2011	Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.	64
18562306	2008	The catalytic and lectin domains of UDP-GalNAc:polypeptide alpha-N-Acetylgalactosaminyltransferase function in concert to direct glycosylation site selection.	33
23443136	2013	Quantitative proteomics reveals that enzymes of the ketogenic pathway are associated with prostate cancer progression.	29
17371050	2007	Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function.	28
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
20167577	2010	Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.	16
24311408	2014	Evaluation and prognostic significance of ACAT1 as a marker of prostate cancer progression.	13
18996102	2009	Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.	11
15128923	2004	Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.	8

Citation

Dessen P

ACAT1 (acetyl-CoA acetyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-03-01

Online version: http://atlasgeneticsoncology.org/gene/50049/acat1