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MGP002975

UniProt Annotations

Entry Information
Gene Namealdo-keto reductase family 1, member D1
Protein EntryAK1D1_HUMAN
UniProt IDP51857
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51857-1; Sequence=Displayed; Name=2; IsoId=P51857-2; Sequence=VSP_042901; Note=No experimental confirmation available.; Name=3; IsoId=P51857-3; Sequence=VSP_042913; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=2.7 uM for testosterone {ECO:0000269|PubMed:18407998};
Catalytic Activity17,21-dihydroxy-5-beta-pregnane-3,11,20-trione + NADP(+) = cortisone.
Catalytic Activity5-beta-cholestan-3-one + NADP(+) = cholest-4- en-3-one + NADPH.
DiseaseCongenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]: A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. {ECO:0000269|PubMed:12970144, ECO:0000269|PubMed:15030995}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationSubject to inhibition by high substrate concentrations. Inhibited by testosterone concentrations above 10 uM. {ECO:0000269|PubMed:18407998}.
FunctionEfficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7- alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4- cholesten-3-one can also act as substrates.
SimilarityBelongs to the aldo/keto reductase family. {ECO:0000305}.
Subcellular LocationCytoplasm.
Tissue SpecificityHighly expressed in liver. Expressed in testis and weakly in colon. {ECO:0000269|PubMed:11342103}.
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