AKR1D1
Aldo-Keto Reductase Family 1 Member D1
Gene Information Card
| Symbol | AKR1D1 |
|---|---|
| Full Name | Aldo-Keto Reductase Family 1 Member D1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 6718 ncbi.nlm.nih.gov/gene/6718 |
| Ensembl ID | ENSG00000122787 |
| UniProt ID | P51857 |
| OMIM ID | 604741 |
| HGNC ID | 388 |
| Aliases | 5β-RED, CBAS2, SRD5B1 |
Description
AKR1D1 encodes steroid 5β-reductase, a key enzyme in bile acid biosynthesis that catalyzes the reduction of Δ4-3-ketosteroids to 5β-dihydrosteroids. This reaction is essential for the conversion of cholesterol into primary bile acids. Mutations in AKR1D1 cause congenital bile acid synthesis defect type 2 (CBAS2), leading to progressive cholestatic liver disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital bile acid synthesis defect type 2 (CBAS2) | Loss-of-function mutations impair 5β-reduction of steroid intermediates, blocking bile acid synthesis and causing accumulation of toxic metabolites. | OMIM #604741; ClinVar pathogenic variants |
| Cholestasis, progressive familial intrahepatic | Deficient bile acid production leads to impaired bile flow and hepatocyte injury. | NCBI Gene; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small intestine | 1.2 | Low |
| Kidney | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.3 | Hepatocellular carcinoma cell line |
| Huh-7 | 9.1 | Hepatoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.666G>A (p.Trp222*) | Nonsense | Rare | Loss of function; truncated protein |
| c.916A>G (p.Asn306Asp) | Missense | Rare | Reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Most reported AKR1D1 mutations result in loss of 5β-reductase activity, leading to bile acid deficiency.
Gain of Function (GOF)
Not described in literature.
Dominant Negative (DN)
Not described in literature.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003854 - 3-oxo-5β-steroid 4-dehydrogenase activity | • GO:0008202 - steroid metabolic process |
| • GO:0006699 - bile acid biosynthetic process | • GO:0005737 - cytoplasm |
Pathways
• Bile acid biosynthesis (Reactome R-HSA-193368)
• Metabolism of steroids (Reactome R-HSA-8957322)
Protein Summary
Steroid 5β-reductase (AKR1D1) is a 37 kDa cytosolic enzyme that catalyzes the NADPH-dependent reduction of Δ4-3-ketosteroids to 5β-dihydrosteroids. This reaction is the rate-limiting step in the conversion of cholesterol to primary bile acids. The enzyme is highly expressed in the liver and belongs to the aldo-keto reductase superfamily.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKR1D1 Knockout HEK293 Cell Line | EDJ-KQ5840 | Human | 6718 | Details Get a Quote |
| AKR1D1 Knockout HeLa Cell Line | EDJ-KQ54562 | Human | 6718 | Details Get a Quote |
| AKR1D1 Knockout A-549 Cell Line | EDJ-KQ63046 | Human | 6718 | Details Get a Quote |
| AKR1D1 Knockout HCT 116 Cell Line | EDJ-KQ71521 | Human | 6718 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
