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Literature summary extracted from

  • Mindnich, R.; Drury, J.E.; Penning, T.M.
    The effect of disease associated point mutations on 5beta-reductase (AKR1D1) enzyme function (2011), Chem. Biol. Interact., 191, 250-254.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.1.3 recombinant expression of AKR1D1 enzyme mutants in HEK-293 cells only at low levels possible and with low activities 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, a non-synonymous point mutations in highly conserved portions of the AKR1D1 gene Homo sapiens
1.3.1.3 L106F naturally occuring mutation, identified in patients with functional bile acid deficiency, a non-synonymous point mutations in highly conserved portions of the AKR1D1 gene Homo sapiens
1.3.1.3 P133R naturally occuring mutation, identified in patients with functional bile acid deficiency, a non-synonymous point mutations in highly conserved portions of the AKR1D1 gene. The mutant exhibits reduced Km and kcat with the bile acid intermediate DELTA4-cholesten-7alpha-ol-3-one as substrate reminiscent of uncompetitive inhibition Homo sapiens
1.3.1.3 P198L naturally occuring mutation, identified in patients with functional bile acid deficiency, a non-synonymous point mutations in highly conserved portions of the AKR1D1 gene Homo sapiens
1.3.1.3 R261C naturally occuring mutation, identified in patients with functional bile acid deficiency, a non-synonymous point mutations in highly conserved portions of the AKR1D1 gene 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 DELTA 4-cholestene-7alpha,12alpha-diol-3-one + NADPH + H+ Homo sapiens a bile acid intermediate 5beta-cholestane-7alpha,12alpha-diol-3-one + NADP+
-
 ?
1.3.1.3 DELTA4-cholesten-7alpha-ol-3-one + NADPH + H+ Homo sapiens a bile acid intermediate 5beta-cholestan-7alpha-ol-3-one + NADP+
-
 ?
1.3.1.3 additional information Homo sapiens AKR1D1 catalyzes the central 5beta-reduction step and reduces bile acid precursors such as DELTA4-cholesten-7alpha-ol-3-one and DELTA 4-cholestene-7alpha,12alpha-diol-3-one to 5beta-cholestan-7alpha-ol-3-one and 5beta-cholestane-7alpha,12alpha-diol-3-one, respectively ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.3.1.3 Homo sapiens
-
 gene AKR1D1
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.1.3 DELTA 4-cholestene-7alpha,12alpha-diol-3-one + NADPH + H+ a bile acid intermediate Homo sapiens 5beta-cholestane-7alpha,12alpha-diol-3-one + NADP+
-
 ?
1.3.1.3 DELTA4-cholesten-7alpha-ol-3-one + NADPH + H+ a bile acid intermediate Homo sapiens 5beta-cholestan-7alpha-ol-3-one + NADP+
-
 ?
1.3.1.3 additional information AKR1D1 catalyzes the central 5beta-reduction step and reduces bile acid precursors such as DELTA4-cholesten-7alpha-ol-3-one and DELTA 4-cholestene-7alpha,12alpha-diol-3-one to 5beta-cholestan-7alpha-ol-3-one and 5beta-cholestane-7alpha,12alpha-diol-3-one, respectively Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.3.1.3 AKR1D1
-
 Homo sapiens
1.3.1.3 steroid 5beta-reductase
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.3.1.3 NADPH
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.3.1.3 evolution the enzyme is a member of the aldo-keto reductase (AKR) family Homo sapiens
1.3.1.3 malfunction deficient 5beta-reductase activity can lead to cholestasis and neo-natal liver failure and is often lethal if it remains untreated Homo sapiens
1.3.1.3 physiological function the human enzyme, AKR1D1, plays an essential role in bile-acid biosynthesis since the 5beta-configuration is required for the emulsifying properties of bile Homo sapiens