ACAT1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ACAT1 |
| Official Name | acetyl-CoA acetyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:93] |
| Ensembl ID | ENSG00000075239 |
| Bio databases IDs | |
| Aliases | acetyl-CoA acetyltransferase 1, acetoacetyl Coenzyme A thiolase |
| Synonyms | 3-Ketothiolase, 6330585C21Rik, ACAT, Acetyl-CoA acetlytransferase 1, acetyl-CoA acetyltransferase 1, acetyl-Coenzyme A acetyltransferase 1, Acyl-coa acetyltransferase, Acyl-coa acetyltransferase 1, LOC107984383, MAT, RATACAL, T2, THIL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ACAT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Thiolase, N-terminal domain
- sterol O-acyltransferase
- acetyl-CoA acetyltransferases
- C-acetyltransferase
- acetyl-CoA C-acetyltransferase
- metal ion binding
- enzyme binding
- enzyme
- Beta-ketoacyl synthase, C-terminal domain
- identical protein binding
- cond_enzymes
- binding protein
- Thiolase, C-terminal domain
Pathways
Biological processes and signaling networks where the ACAT1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- obesity
- hepatocellular carcinoma
- liver cancer
- alpha-methylacetoacetic aciduria
- hereditary disorder
- renal clear cell adenocarcinoma
- renal clear cell cancer
- atherosclerosis
role in cell
- expression in
- migration
- generation in
- invasion
- quantity
- proliferation
- cell death
- differentiation
- signaling in
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Endoplasmic Reticulum
- Mitochondria
- microsome
- mitochondrial matrix
- mitochondrial intermembrane space
- mitochondrial outer membrane
- mitochondrial inner membrane
- cytoplasmic droplets
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACAT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acetyl-CoA biosynthetic process
- ketone body catabolic process
- response to starvation
- isoleucine catabolic process
- acetyl-CoA catabolic process
- response to organic cyclic compound
- response to hormone stimulus
- adipose tissue development
- fatty acid beta-oxidation
- liver development
- coenzyme A biosynthetic process
- coenzyme A metabolic process
- metanephric proximal convoluted tubule development
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- mitochondrial matrix
- mitochondrion
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- acetyl-CoA C-acetyltransferase activity
- identical protein binding
- potassium ion binding
- C-acetyltransferase activity
- cholesterol O-acyltransferase activity
- enzyme binding