ACAT1

acetyl-CoA acetyltransferase 1 | THIL, ACAT

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]

Developmental clusters: GC4

Biological processes 36 terms

C-acetyltransferase activity (GO:0016453)L-isoleucine catabolic process (GO:0006550)L-isoleucine catabolic process (GO:0006550)acetyl-CoA C-acetyltransferase activity (GO:0003985)acetyl-CoA C-acetyltransferase activity (GO:0003985)acetyl-CoA C-acetyltransferase activity (GO:0003985)acetyl-CoA C-acetyltransferase activity (GO:0003985)acetyl-CoA C-acetyltransferase activity (GO:0003985)acetyl-CoA biosynthetic process (GO:0006085)acetyl-CoA catabolic process (GO:0046356)acyltransferase activity (GO:0016746)acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)adipose tissue development (GO:0060612)cholesterol O-acyltransferase activity (GO:0034736)coenzyme A binding (GO:0120225)coenzyme A biosynthetic process (GO:0015937)coenzyme A metabolic process (GO:0015936)endoplasmic reticulum (GO:0005783)enzyme binding (GO:0019899)extracellular exosome (GO:0070062)fatty acid beta-oxidation (GO:0006635)identical protein binding (GO:0042802)ketone body catabolic process (GO:0046952)ketone body metabolic process (GO:1902224)liver development (GO:0001889)metanephric proximal convoluted tubule development (GO:0072229)mitochondrial matrix (GO:0005759)mitochondrial matrix (GO:0005759)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)mitochondrion (GO:0005739)potassium ion binding (GO:0030955)propionyl-CoA biosynthetic process (GO:1902860)response to hormone (GO:0009725)response to starvation (GO:0042594)

Expression (TPM)

TFs regulating ACAT1 0 TFs

Transcription factors with Perturb-seq knockdown data for ACAT1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ACAT1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

TF	Mean coef	Binding	Outlier	TF→Gene link

Rows:

Elements linked to ACAT1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ACAT1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Element	Dist. to TSS	Link type	TFs
chr11:107,833,401–107,834,470	287.5 kb	Distal (>10kb) Multiome	123
chr11:107,857,895–107,860,083	262.6 kb	Distal (>10kb) Multiome	916
chr11:107,927,906–107,929,475	193.2 kb	Distal (>10kb) Multiome	653
chr11:108,008,534–108,009,915	112.5 kb	Distal (>10kb) Multiome	1031
chr11:108,121,137–108,122,070	at TSS	At TSS Multiome	878
chr11:108,221,947–108,224,257	101.3 kb	Distal (>10kb) Multiome	939
chr11:108,664,315–108,665,549	543.4 kb	Distal (>10kb) Multiome HiCAR	672
chr11:110,091,940–110,094,243	1971.4 kb	Distal (>10kb) Multiome HiCAR	843

Genome Browser

Genomic view of the ACAT1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.