ACAA1 Gene Summary [Human]
This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | ACAA1 |
| Official Name | acetyl-CoA acyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:82] |
| Ensembl ID | ENSG00000060971 |
| Bio databases IDs | |
| Aliases | acetyl-CoA acyltransferase 1, peroxisomal 3-oxoacyl-Coenzyme A thiolase |
| Synonyms | ACAA, Acaa1b, acetyl-CoA acyltransferase 1, acetyl-Coenzyme A acyltransferase 1B, Lnc-Myd88, MGC29978, peroxisomal 3-oxoacyl-Coenzyme A thiolase, PTHIO, THIO, THIOL, THIOLASE, Thiolase b |
| 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 ACAA1 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
- cond_enzymes
- acetyl-CoA C-acyltransferase
- peroxisome targeting signal 2
- acetyl-CoA acetyltransferases
- acetate CoA-transferase
- Thiolase, C-terminal domain
- enzyme
- acetyl-CoA C-myristoyltransferase
- protein binding
- Beta-ketoacyl synthase, C-terminal domain
- palmitoyl-CoA oxidase
Pathways
Biological processes and signaling networks where the ACAA1 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
- unstable angina
- disorder of coronary artery
- non-insulin-dependent diabetes mellitus
- COVID-19
- liver cancer
- epithelial cancer
- diabetes mellitus
- cardiotoxicity
- hepatitis B virus-related hepatocellular carcinoma
- coronary disease
role in cell
- binding in
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
- peroxisomal matrix
- secretory granule lumen
- Extracellular Space
- cytosol
- peroxisomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACAA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fatty acid beta-oxidation
- fatty acid beta-oxidation using acyl-CoA oxidase
- alpha-linolenic acid metabolic process
- very long-chain fatty acid metabolic process
- bile acid metabolic process
- phenylacetate catabolic process
Cellular Component
Where in the cell the gene product is active
- peroxisome
- specific granule lumen
- membrane
- cytosol
- peroxisomal matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- acetyl-CoA C-acetyltransferase activity
- protein binding
- acetyl-CoA C-acyltransferase activity
- acetate CoA-transferase activity
- palmitoyl-CoA oxidase activity
- acetyl-CoA C-myristoyltransferase activity