ACSF3 Gene Summary [Human]
This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]
Details
| Type | Protein Coding |
| Official Symbol | ACSF3 |
| Official Name | acyl-CoA synthetase family member 3 [Source:HGNC Symbol;Acc:HGNC:27288] |
| Ensembl ID | ENSG00000176715 |
| Bio databases IDs | |
| Aliases | acyl-CoA synthetase family member 3, malonyl-CoA synthetase |
| Synonyms | acyl-CoA synthetase family member 3 |
| 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 ACSF3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- fatty-acid ligase
- benzoate-CoA ligase family
- AMP-binding enzyme
- acid-thiol ligase
- CoA-ligase
- Adenylate forming domain, Class I superfamily
- O-succinylbenzoate-CoA ligase
- acyl-CoA ligase (AMP-forming), exosortase A-associated
- enzyme
- protein binding
- AMP-binding enzyme C-terminal domain
- amino acid adenylation domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Mitochondria
- mitochondrial matrix
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACSF3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- malonate catabolic process
- long-chain fatty-acyl-CoA biosynthetic process
- fatty acid biosynthetic process
- fatty acid metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- very long-chain fatty acid-CoA ligase activity
- ATP binding
- acid-thiol ligase activity
- protein binding
- malonyl-CoA synthetase activity