ACSS1 Gene Summary [Human]
This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Details
| Type | Processed Transcript |
| Official Symbol | ACSS1 |
| Official Name | acyl-CoA synthetase short chain family member 1 [Source:HGNC Symbol;Acc:HGNC:16091] |
| Ensembl ID | ENSG00000154930 |
| Bio databases IDs | |
| Aliases | acyl-CoA synthetase short chain family member 1 |
| Synonyms | 1110032O15Rik, Acas2, ACAS2L, ACECS1, AceCS2, AceCS2L, acyl-CoA synthetase short-chain family member 1, LOC681886 |
| 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 ACSS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- acetate--CoA ligase
- Adenylate forming domain, Class I superfamily
- O-succinylbenzoate-CoA ligase
- enzyme
- protein binding
- acetoacetyl-CoA synthase
- Acetyl-coenzyme A synthetase N-terminus
- benzoate-CoA ligase family
- AMP-binding enzyme
- acyl-CoA ligase (AMP-forming), exosortase A-associated
- acetate-CoA ligase
- propionate-CoA ligase
- acetate-CoA ligase (ADP-forming)
- 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.
disease
- lung adenocarcinoma
- lung adenocarcinoma formation
- weight loss
- early onset hypertension
- growth failure
- rotator cuff injury
- diabetes mellitus
- hypoglycemia
role in cell
- expression 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
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ACSS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acetyl-CoA biosynthetic process
- propionate biosynthetic process
- acetate biosynthetic process
- acetyl-CoA biosynthetic process from acetate
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- AMP binding
- acetate-CoA ligase activity
- propionate-CoA ligase activity