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Literature summary extracted from
- Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency (2010), J. Biol. Chem., 285, 24529-24537.
Cloned(Commentary)
| EC Number | Cloned (Comment) | Organism |
|---|---|---|
| 1.3.1.3 | expression in Escherichia coli and HEK-293 cell | Homo sapiens |
| 1.3.1.3 | recombinant expression of AKR1D1 enzyme mutants in HEK-293 cells | Homo sapiens |
Protein Variants
| EC Number | Protein Variants | Comment | Organism |
|---|---|---|---|
| 1.3.1.3 | G223E | naturally occuring mutation, identified in patients with functional bile acid deficiency, inactive mutant | Homo sapiens |
| 1.3.1.3 | L106F | mutant identified in patient with reduced enzymic activity | Homo sapiens |
| 1.3.1.3 | L106F | naturally occuring mutation, identified in patients with functional bile acid deficiency, almost inactive mutant | Homo sapiens |
| 1.3.1.3 | P133R | mutant identified in patient with reduced enzymic activity | Homo sapiens |
| 1.3.1.3 | P133R | mutant identified in patient with reduced enzymic activity. Mutant displays a highly reduced Km and Vmax reminiscent of uncompetitive kinetics with 4-cholesten-7alpha-ol-3-one as substrate. Mutant displays no change in cofactor affinity but is more thermolabile in the absence of NADPH | Homo sapiens |
| 1.3.1.3 | P133R | naturally occuring mutation, identified in patients with functional bile acid deficiency, AKR1D1-P133R activity is significantly reduced compared with wild-type enzyme | Homo sapiens |
| 1.3.1.3 | P198L | mutant identified in patient with reduced enzymic activity | Homo sapiens |
| 1.3.1.3 | P198L | naturally occuring mutation, identified in patients with functional bile acid deficiency, inactive mutant | Homo sapiens |
| 1.3.1.3 | R261C | mutant identified in patient with reduced enzymic activity | Homo sapiens |
| 1.3.1.3 | R261C | naturally occuring mutation, identified in patients with functional bile acid deficiency, almost inactive mutant | Homo sapiens |
Inhibitors
| EC Number | Inhibitors | Comment | Organism | Structure |
|---|---|---|---|---|
| 1.3.1.3 | testosterone | substrate inhibition; substrate inhibition of the wild-type enzyme | Homo sapiens |  |
KM Value [mM]
| EC Number | KM Value [mM] | KM Value Maximum [mM] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 1.3.1.3 | additional information | - |
additional information | Henri-Michaelis-Menten steady-state kinetics of mutant enzyme P133R | Homo sapiens | |
| 1.3.1.3 | 0.0013 | - |
cortisone | mutant P133R, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 0.0013 | - |
cortisone | pH 6.0, 37°C, mutant P133R | Homo sapiens | |
| 1.3.1.3 | 0.0027 | - |
testosterone | pH 6.0, 37°C, wild-type enzyme | Homo sapiens | |
| 1.3.1.3 | 0.0027 | - |
testosterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 0.0127 | - |
testosterone | mutant P133R, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 0.0127 | - |
testosterone | pH 6.0, 37°C, mutant P133R | Homo sapiens | |
| 1.3.1.3 | 0.0151 | - |
cortisone | pH 6.0, 37°C, wild-type enzyme | Homo sapiens | |
| 1.3.1.3 | 0.0151 | - |
cortisone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
Natural Substrates/ Products (Substrates)
| EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 1.3.1.3 | cortisone + NADPH + H+ | Homo sapiens | - |
17,21-dihydroxy-5beta-pregnane-3,11,20-trione + NADP+ | - |
? | |
| 1.3.1.3 | testosterone + NADPH + H+ | Homo sapiens | - |
(5beta,17beta)-17-hydroxyandrostan-3-one + NADP+ | - |
? | |
Organism
| EC Number | Organism | UniProt | Comment | Textmining |
|---|---|---|---|---|
| 1.3.1.3 | Homo sapiens | - |
- |
- |
| 1.3.1.3 | Homo sapiens | P51857 | - |
- |
Purification (Commentary)
| EC Number | Purification (Comment) | Organism |
|---|---|---|
| 1.3.1.3 | recombinant AKR1D1 enzyme mutant P133R from HEK-293 cells, the other expressed mutants cannot be purified | Homo sapiens |
Substrates and Products (Substrate)
| EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|---|
| 1.3.1.3 | cortisone + NADPH + H+ | - |
Homo sapiens | 17,21-dihydroxy-5beta-pregnane-3,11,20-trione + NADP+ | - |
? | |
| 1.3.1.3 | additional information | the enzyme catalyzes stereo-specifically reduces the DELTA4 double bond in 3-keto steroids and sterols to yield the 5beta-hydrogenated product | Homo sapiens | ? | - |
? | |
| 1.3.1.3 | testosterone + NADPH + H+ | - |
Homo sapiens | (5beta,17beta)-17-hydroxyandrostan-3-one + NADP+ | - |
? | |
Subunits
| EC Number | Subunits | Comment | Organism |
|---|---|---|---|
| 1.3.1.3 | More | structure-function relationship, overview | Homo sapiens |
Synonyms
| EC Number | Synonyms | Comment | Organism |
|---|---|---|---|
| 1.3.1.3 | AKR1D1 | - |
Homo sapiens |
| 1.3.1.3 | aldo-keto reductase 1D1 | - |
Homo sapiens |
Temperature Optimum [°C]
| EC Number | Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
|---|---|---|---|---|
| 1.3.1.3 | 37 | - |
assay at | Homo sapiens |
Turnover Number [1/s]
| EC Number | Turnover Number Minimum [1/s] | Turnover Number Maximum [1/s] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 1.3.1.3 | 0.01 | - |
cortisone | mutant P133R, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 0.01 | - |
cortisone | pH 6.0, 37°C, mutant P133R | Homo sapiens | |
| 1.3.1.3 | 0.012 | - |
testosterone | pH 6.0, 37°C, wild-type enzyme | Homo sapiens | |
| 1.3.1.3 | 0.045 | - |
testosterone | pH 6.0, 37°C, mutant P133R | Homo sapiens | |
| 1.3.1.3 | 0.05 | - |
testosterone | mutant P133R, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 0.12 | - |
testosterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 0.165 | - |
cortisone | pH 6.0, 37°C, wild-type enzyme | Homo sapiens | |
| 1.3.1.3 | 0.17 | - |
cortisone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
pH Optimum
| EC Number | pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
|---|---|---|---|---|
| 1.3.1.3 | 6 | - |
assay at | Homo sapiens |
Cofactor
| EC Number | Cofactor | Comment | Organism | Structure |
|---|---|---|---|---|
| 1.3.1.3 | NADPH | - |
Homo sapiens | |
Ki Value [mM]
| EC Number | Ki Value [mM] | Ki Value maximum [mM] | Inhibitor | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 1.3.1.3 | 0.0145 | - |
testosterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 0.0145 | - |
testosterone | pH 6.0, 37°C, wild-type enzyme | Homo sapiens | |
General Information
| EC Number | General Information | Comment | Organism |
|---|---|---|---|
| 1.3.1.3 | additional information | structure-function relationship, overview | Homo sapiens |
kcat/KM [mM/s]
| EC Number | kcat/KM Value [1/mMs-1] | kcat/KM Value Maximum [1/mMs-1] | Substrate | Comment | Organism | Structure |
|---|---|---|---|---|---|---|
| 1.3.1.3 | 3.5 | - |
testosterone | mutant P133R, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 3.54 | - |
testosterone | pH 6.0, 37°C, mutant P133R | Homo sapiens | |
| 1.3.1.3 | 4.44 | - |
testosterone | pH 6.0, 37°C, wild-type enzyme | Homo sapiens | |
| 1.3.1.3 | 7.69 | - |
cortisone | pH 6.0, 37°C, mutant P133R | Homo sapiens | |
| 1.3.1.3 | 7.7 | - |
cortisone | mutant P133R, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 10.93 | - |
cortisone | pH 6.0, 37°C, wild-type enzyme | Homo sapiens | |
| 1.3.1.3 | 11 | - |
cortisone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
| 1.3.1.3 | 43.8 | - |
testosterone | wild-type, pH not specified in the publication, temperature not specified in the publication | Homo sapiens | |
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