ADHFE1 Gene Summary [Human]
The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | ADHFE1 |
| Official Name | alcohol dehydrogenase iron containing 1 [Source:HGNC Symbol;Acc:HGNC:16354] |
| Ensembl ID | ENSG00000147576 |
| Bio databases IDs | |
| Aliases | alcohol dehydrogenase iron containing 1, hydroxyacid-oxoacid transhydrogenase |
| Synonyms | 6330565B14Rik, ADH8, alcohol dehydrogenase iron containing 1, alcohol dehydrogenase, iron containing, 1, GHB dehydrogenase, HMFT2263, HOT |
| 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 ADHFE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alcohol dehydrogenase
- enzyme
- dehydroquinate synthase-like
- Iron-containing alcohol dehydrogenase
- hydroxyacid-oxoacid transhydrogenase
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ADHFE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glutamate catabolic process via 2-oxoglutarate
- lipid metabolic process
- 2-oxoglutarate 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
- metal ion binding
- alcohol dehydrogenase (NAD) activity
- hydroxyacid-oxoacid transhydrogenase activity