OXCT1 Gene Summary [Human]
This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | OXCT1 |
| Official Name | 3-oxoacid CoA-transferase 1 [Source:HGNC Symbol;Acc:HGNC:8527] |
| Ensembl ID | ENSG00000083720 |
| Bio databases IDs | |
| Aliases | 3-oxoacid CoA-transferase 1, Succinyl-CoA:3-ketoacid-CoA transferase |
| Synonyms | 2610008O03Rik, 3-Oxoacid coa transferase, 3-oxoacid CoA-transferase 1, LOC100359544, LOC678860, LOC690109, LOC690163, OXCT, Oxct1 (predicted), Oxct2a, SCOT, Scot-s, Succinyl coa:3-ketoacid coa transferase, Succinyl COA:3-OXOACID COA TRANSFERASE |
| 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 OXCT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SugarP_isomerase
- 3-oxoacid CoA-transferase
- protein homodimerization
- enzyme
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- non-insulin-dependent diabetes mellitus
- schizophrenia
- facioscapulohumeral muscular dystrophy
- succinyl-coa acetoacetate transferase deficiency
- ketoaciduria
regulates
- ketone body
- LACTB
- ketone
role in cell
- growth
- gemcitabine resistance
- succinylation 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
- pH resistant lipid raft fraction
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OXCT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ketone catabolic process
- ketone body catabolic process
- cellular ketone body metabolic process
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
- 3-oxoacid CoA-transferase activity