AKR1D1 Gene Summary [Human]
The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
Details
| Type | Processed Transcript |
| Official Symbol | AKR1D1 |
| Official Name | aldo-keto reductase family 1 member D1 [Source:HGNC Symbol;Acc:HGNC:388] |
| Ensembl ID | ENSG00000122787 |
| Bio databases IDs | |
| Aliases | aldo-keto reductase family 1 member D1, delta 4-3-ketosteroid-5-beta-reductase |
| Synonyms | 3o5bred, 5 beta-reductase, 5 β R, 5 β-reductase, aldo-keto reductase family 1 member D1, aldo-keto reductase family 1, member D1, CBAS2, delta 4-3-KETOSEROID-5-beta-REDUCTASE, Delta(4)-3-oxosteroid 5-beta-reductase, SRD5B1, δ 4-3-KETOSEROID-5-β-REDUCTASE, δ(4)-3-oxosteroid 5-β-reductase |
| 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 AKR1D1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cortisone beta-reductase
- Aldo-keto reductase (AKR) superfamily
- aldo-keto reductase
- Aldo/keto reductase family
- enzyme
- protein binding
- 3-oxo-5beta-steroid 4-dehydrogenase
- steroid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- congenital bile acid synthesis defect type 2
- liver cancer
- epithelial cancer
- melasma
- acne vulgaris
- congenital bile acid synthesis defect
- hepatitis B virus-related hepatocellular carcinoma
- rosacea
- rheumatoid arthritis
regulates
- cholesterol
- bile acid
- glucocorticoid
- androgen
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AKR1D1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- androgen metabolic process
- cholesterol catabolic process
- digestion
- bile acid catabolic process
- C21-steroid hormone metabolic process
- bile acid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- steroid dehydrogenase activity
- ketosteroid monooxygenase activity
- alditol:NADP+ 1-oxidoreductase activity
- delta4-3-oxosteroid 5beta-reductase activity
- aldo-keto reductase (NADP) activity
- steroid binding