AlphaFold predicted structure
AKR1D1 · P51857
Mean pLDDT
97.1/ 100
Very high
326 residues
Confidence breakdown
- Very high(≥ 90)96%
- Confident(70–90)4%
- Low(50–70)0%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
AKR1D1
Chr 7q33aldo-keto reductase family 1 member D1
- MANE:
- ENST00000242375.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cholestasis
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalNeonatal cholestasis
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
congenital bile acid synthesis defect 2
0.80Congenital bile acid synthesis defect type 2
0.68Hepatic failure
0.47liver failure
0.47cholestasis
0.47congenital bile acid synthesis defect
0.44alcohol drinking
0.38injury
0.31viral pneumonia
0.29temporomandibular joint disorder
0.26
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Aldo-keto reductase family 1 member D1
Catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure to yield an A/B cis-ring junction. This cis-configuration is crucial for bile acid biosynthesis and plays important roles in steroid metabolism. Capable of reducing a broad range of delta-(4)-3-ketosteroids from C18 (such as, 17beta-hydroxyestr-4-en-3-one) to C27 (such as, 7alpha-hydroxycholest-4-en-3-one)