Property Summary

NCBI Gene PubMed Count 72
PubMed Score 67.41
PubTator Score 233.33

Knowledge Summary


No data available


  Differential Expression (17)

Disease log2 FC p
nephrosclerosis -1.194 3.3e-03
Waldenstrons macroglobulinemia 1.231 8.8e-03
Multiple myeloma 1.609 5.8e-05
adrenocortical carcinoma -1.036 3.4e-04
pancreatic ductal adenocarcinoma liver m... -3.362 4.1e-03
intraductal papillary-mucinous adenoma (... -1.100 1.7e-02
intraductal papillary-mucinous carcinoma... -1.700 2.6e-02
intraductal papillary-mucinous neoplasm ... -1.900 8.0e-03
colon cancer -1.300 4.8e-04
ulcerative colitis -2.100 1.2e-10
pancreatic cancer -1.600 4.2e-03
fibroadenoma -1.100 4.7e-02
lung adenocarcinoma -1.100 3.3e-06
gastric carcinoma -1.200 2.9e-02
ductal carcinoma in situ -1.600 1.3e-03
invasive ductal carcinoma -1.600 4.3e-03
ovarian cancer -1.900 1.7e-05

Protein-protein Interaction (1)

Gene RIF (50)

27264805 compound heterozygous of ACAT1 gene mutations probably underlie the beta-ketothiolase deficiency in our patient
26252415 ACAT1 regulates glioblastoma-cell proliferation via modification of the Akt and/or the ERK1/2 pathway.
25639359 Data indicate that acetyl-CoA acetyltransferase (ACAT1) and malate dehydrogenase (MDH2) are involved in various drug-resistance-forming mechanisms.
25339759 Acat1 gene knock-out increases phagocytic uptake of amyloid beta-protein (1-42).
25099943 ACAT1, ACACA, ALDH6A1 and MTHFD1 represent novel biomarkers in adipose tissue associated with type 2 diabetes in obese individuals.
24577316 Data show that the C allele of acyl-CoA acyltransferase-1 (ACAT-1) rs1044925 was associated with a decreased risk of coronary artery disease and ischemic stroke patients.
24517390 the enzyme activity of ACAT1 with Gln526 is less active than that of ACAT1 with Arg526 by 40%; Pro347 located near transmembrane domain 5 plays an important role in modulating enzyme catalysis
24486017 the pyruvate dehydrogenase complex is regulated by Tyr phosphorylation of PDP1, which toggles recruitment between ACAT1 and SIRT3
24407243 Induction of apoptosis and necroptosis by 24(S)-hydroxycholesterol is dependent on activity ACAT1.
24311408 these findings indicate that ACAT1 expression could serve as a potential prognostic marker in prostate cancer, specifically in differentiating indolent and aggressive forms of cancer.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of acetyl-CoA acetyltransferase 1 (ACAT1) expression by HIV-1 Vpr in Vpr transduced macrophages
23835473 The exo-endo trans-splicing is dependent on the interchromosomal region of the 4.3-kb human ACAT1 chimeric mRNA, and that the chimeric mRNA is necessary for the production of the ACAT1 56-kDa isoform.
23564383 The molecular mechanism of insulin action is mediated via interaction of the functional IRE upstream of the ACAT1 P1 promoter with C/EBPalpha and is MAPK-dependent.
23443136 ACAT1 expression is substantially elevated in human castration-resistant metastatic prostate cancer tissues.
23305686 ABCA1 and ACAT1 DNA methylation induced by homocysteine may play a potential role in ABCA1 and ACAT1 expression and the accumulation of cholesterol in monocyte-derived foam cells
23109900 Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels.
22275303 Essential oil of Pinus koraiensis leaves significantly inhibited hACAT1 levels in HepG2 cells.
22243772 The present study shows that the C allele carriers of ACAT-1 rs1044925 SNP in male hyperlipidemic subjects had higher serum total cholesterol, HDL-cholesterol and ApoAI levels than the C allele noncarriers.
21791085 Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines.
21177161 In THP-1-derived macrophages and foam cells, the expression level of ACAT-1 and cellular cholesterol content increased significantly in response to asymmetric dimethylarginine treatment in a time- and concentration-dependent manner.
20945045 Visfatin may down-regulate the ABCA1 expression and up-regulate the ACAT1 expression via PPARgamma signal transduction pathway, which decreases the outflow of free cholesterol, increases the content of cholesterol esters, and then induces foam cell formation.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20843517 the plaque-modulating effects of K-604 can be explained by stimulation of procollagen production independent of ACAT inhibition in addition to potent inhibition of macrophage ACAT-1
20602615 Observational study of gene-disease association. (HuGE Navigator)
20460577 Macrophages cope with cholesterol loading by using a novel mechanism: they produce more ER-derived vesicles with elevated ACAT1 enzyme activity without having to produce more ACAT1 protein.
20167577 Observational study of gene-disease association. (HuGE Navigator)
20156697 We herein identified a common mutation, R208X, in Vietnamese patients. We identified R208X homozygously in six patients and heterozygously in two patients among eight Vietnamese patients.
20156697 Observational study of gene-disease association. (HuGE Navigator)
20046049 the siblings with the same T2 gene mutations present different clinical severity of T2 deficiency
19851860 High ACAT1 expression is associated with estrogen receptor negative basal-like breast cancer.
19625677 Leptin accelerates cholesteryl ester accumulation in human monocyte-derived macrophages by increasing ACAT-1 expression.
19269342 Results suggest that the ERK, p38MAPK and JNK signaling pathways may be involved in insulin-mediated regulation of ACAT1, but no PI3K and PLC-gamma signaling pathways were involved in the present study.
19217763 Docosahexaenoic acid can act as a substrate for ACAT1. In the manner of a poor substrate, docosahexaenoic acid also inhibited the activity of ACAT1.
19112833 I/D polymorphism of ACE gene and AC AT1 gene influence the development of hypertension and Left Ventricular Hypertrophy in Hemodialysis patients.
18996102 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18971559 Angiotensin II enhances foam cell formation by upregulating ACAT1 expression predominantly through the actions of AT(1) receptor via the G protein/c-Src/PKC/MAPK pathway in human monocyte-macrophages
18779653 ACAT inhibition may stimulate cholesterol-catabolic (cytochrome P450) pathway in lesion-macrophages.
18562306 sequence recognition by the catalytic domain differs between hT2 and hT10 in that hT10 requires a pre-existing GalNAc residue while hT2 does not
18542101 RNA secondary structures located in the vicinity of the GGC(1274-1276) codon are required for production of the 56-kDa isoform.
18511318 A point mutation was responsible for the aberrant RNA splicing of the mitochondrial acetoacetyl-CoA thiolase gene.
18393248 The results suggest that rs1044925 polymorphism in ACAT1 gene is not only associated with serum LDL-C and nHDLC levels in healthy Chinese subjects in Chengdu area, but also with HDL-C level in subjects with endogenous hypertriglyceridemia.
18393248 Observational study of gene-disease association. (HuGE Navigator)
18000807 increase in the in vitro ACAT1 activity in PC-3 prostate cancer cells treated with androgen
17691824 Several residues in one subunit closely interact with the same residues in the other subunit; mutating these res. to Cys does not lead to loss in enzyme activity. Mutating residues F453, A457, or H460 to Cys causes large loss in enzyme activity.
17371050 Crystallographic and kinetic studies were made on mitochondrial acetyl-CoA thiolase: the importance of potassium and chloride ions were noted for its structure and function.
17236799 E252del is a temperature-sensitive K(m) mutant.
16935016 Cloning and sequencing long range PCR products revealed a 6.4kb deletion. Alu element-mediated unequal homologous recombination between an Alu-Sx in intron 1 and another Alu-Y in intron 4 appears to be responsible for this deletion.
15158756 Observational study of gene-disease association. (HuGE Navigator)
15128923 "mild" mutations (A132G, D339-V340insD) retained some residual T2 activity
12754704 Single base substitutions at the initiator codon produced wild-type T2 polypeptide to various degrees

AA Sequence

AMLIQKL                                                                   421 - 427

Text Mined References (80)

PMID Year Title
27264805 2016 [Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency].
26252415 2015 K604, a specific acyl?CoA:cholesterol acyltransferase 1 inhibitor, suppresses proliferation of U251?MG glioblastoma cells.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25639359 2015 Mitochondrial proteomics with siRNA knockdown to reveal ACAT1 and MDH2 in the development of doxorubicin-resistant uterine cancer.
25339759 2014 Inhibiting ACAT1/SOAT1 in microglia stimulates autophagy-mediated lysosomal proteolysis and increases A?1-42 clearance.
25099943 2014 Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.
24577316 2014 Association between single nucleotide polymorphism rs1044925 and the risk of coronary artery disease and ischemic stroke.
24517390 2014 Acyl-coenzyme A:cholesterol acyltransferase 1 - significance of single-nucleotide polymorphism at residue 526 and the role of Pro347 near the fifth transmembrane domain.
24486017 2014 Tyr phosphorylation of PDP1 toggles recruitment between ACAT1 and SIRT3 to regulate the pyruvate dehydrogenase complex.
24407243 2014 Induction of apoptosis and necroptosis by 24(S)-hydroxycholesterol is dependent on activity of acyl-CoA:cholesterol acyltransferase 1.
24311408 2014 Evaluation and prognostic significance of ACAT1 as a marker of prostate cancer progression.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23835473 2013 Production of ACAT1 56-kDa isoform in human cells via trans-splicing involving the ampicillin resistance gene.
23564383 2013 Insulin induces human acyl-coenzyme A: cholesterol acyltransferase1 gene expression via MAP kinases and CCAAT/enhancer-binding protein ?.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23443136 2013 Quantitative proteomics reveals that enzymes of the ketogenic pathway are associated with prostate cancer progression.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23305686 2013 Homocysteine-mediated cholesterol efflux via ABCA1 and ACAT1 DNA methylation in THP-1 monocyte-derived foam cells.
23109900 2012 Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels.
22275303 2012 Essential oil of Pinus koraiensis leaves exerts antihyperlipidemic effects via up-regulation of low-density lipoprotein receptor and inhibition of acyl-coenzyme A: cholesterol acyltransferase.
22243772 2012 Sex-specific association of ACAT-1 rs1044925 SNP and serum lipid levels in the hypercholesterolemic subjects.
21791085 2011 Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.
21269460 2011 Initial characterization of the human central proteome.
21177161 2010 Asymmetric dimethylarginine upregulates the expression of ACAT-1 in THP-1 macrophage-derived foam cells.
20945045 2010 [PPAR? signal transduction pathway in the foam cell formation induced by visfatin].
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843517 2010 A selective ACAT-1 inhibitor, K-604, stimulates collagen production in cultured smooth muscle cells and alters plaque phenotype in apolipoprotein E-knockout mice.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20460577 2010 Cholesterol loading in macrophages stimulates formation of ER-derived vesicles with elevated ACAT1 activity.
20167577 2010 Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
20156697 2010 A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
20046049 2010 Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.
19851860 2010 High ACAT1 expression in estrogen receptor negative basal-like breast cancer cells is associated with LDL-induced proliferation.
19625677 2009 Leptin modulates ACAT1 expression and cholesterol efflux from human macrophages.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19269342 2009 Study of the insulin signaling pathways in the regulation of ACAT1 expression in cultured macrophages.
19217763 Docosahexaenoic acid is a substrate for ACAT1 and inhibits cholesteryl ester formation from oleic acid in MCF-10A cells.
19112833 2008 [Genetic predisposition to systemic complications of arterial hypertension in maintenance haemodialysis patients].
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18996102 2009 Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
18971559 2008 Angiotensin II upregulates acyl-CoA:cholesterol acyltransferase-1 via the angiotensin II Type 1 receptor in human monocyte-macrophages.
18779653 2008 Inhibition of acyl-coenzyme A:cholesterol acyltransferase stimulates cholesterol efflux from macrophages and stimulates farnesoid X receptor in hepatocytes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18562306 2008 The catalytic and lectin domains of UDP-GalNAc:polypeptide alpha-N-Acetylgalactosaminyltransferase function in concert to direct glycosylation site selection.
18542101 2008 RNA secondary structures located in the interchromosomal region of human ACAT1 chimeric mRNA are required to produce the 56-kDa isoform.
18511318 2008 A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene.
18393248 2008 [Analysis of acyl-coenzyme A: cholesterol acyltransferase 1 polymorphism in patients with endogenous hypertriglyceridemia in Chinese population].
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18000807 2008 Androgen-mediated cholesterol metabolism in LNCaP and PC-3 cell lines is regulated through two different isoforms of acyl-coenzyme A:Cholesterol Acyltransferase (ACAT).
17691824 2007 Functionality of the seventh and eighth transmembrane domains of acyl-coenzyme A:cholesterol acyltransferase 1.
17371050 2007 Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17236799 2007 Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.
16935016 2006 Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16341674 2005 Transcriptome analysis of human gastric cancer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15242332 2004 Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.
15158756 2004 The influence of the acyl-CoA:cholesterol acyltransferase-1 gene (-77G-->A) polymorphisms on plasma lipid and apolipoprotein levels in normolipidemic and hyperlipidemic subjects.
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.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12754704 2003 Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9744475 1998 Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.
9700610 1998 Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy.
9607396 1998 Practical assay method of cytosolic acetoacetyl-CoA thiolase by rapid release of cytosolic enzymes from cultured lymphocytes using digitonin.
9380443 1997 Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases.
8103405 1993 Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families.
7907600 1994 Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency.
7749408 1995 Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
7728148 1995 Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
7173255 1982 Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.
4690360 1973 An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis.
3709573 1986 3-Ketothiolase deficiency.
1979337 1990 Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.
1715688 1991 Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.
1684944 1991 Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene.
1627655 1992 Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping.
1351831 1992 Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3----q23.1 by fluorescence in situ hybridization.
1346617 1992 Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.