MGP Database

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MGP000806

UniProt Annotations

Entry Information
Gene Namealdo-keto reductase family 1, member C2
Protein EntryAK1C2_HUMAN
UniProt IDP52895
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P52895-1; Sequence=Displayed; Name=2; IsoId=P52895-2; Sequence=VSP_043779, VSP_043780; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=260 uM for (s)-tetralol {ECO:0000269|PubMed:8573067}; KM=520 uM for (s)-indan-1-ol {ECO:0000269|PubMed:8573067}; KM=5000 uM for benzene dihydrodiol {ECO:0000269|PubMed:8573067}; KM=1 uM for 5-beta-pregnane-3-alpha,20-alpha-diol {ECO:0000269|PubMed:8573067}; KM=208 uM for 9-alpha,11-beta-PGF2 {ECO:0000269|PubMed:8573067}; KM=0.3 uM for 5-beta-androstane-3,17-dione {ECO:0000269|PubMed:8573067}; KM=79 uM for PGD2 {ECO:0000269|PubMed:8573067};
Catalytic ActivityA 3-alpha-hydroxysteroid + NAD(P)(+) = a 3- oxosteroid + NAD(P)H.
Catalytic ActivityTrans-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + NADPH.
Disease46,XY sex reversal 8 (SRXY8) [MIM:614279]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. {ECO:0000269|PubMed:21802064}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationInhibited by hexestrol with an IC(50) of 2.8 uM, 1,10-phenanthroline with an IC(50) of 2100 uM, 1,7- phenanthroline with an IC(50) of 1500 uM, flufenamic acid with an IC(50) of 0.9 uM, indomethacin with an IC(50) of 75 uM, ibuprofen with an IC(50) of 6.9 uM, lithocholic acid with an IC(50) of 0.07 uM, ursodeoxycholic acid with an IC(50) of 0.08 uM and chenodeoxycholic acid with an IC(50) of 0.13 uM. {ECO:0000269|PubMed:8573067}.
FunctionWorks in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha- DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol). Has a high bile-binding ability. {ECO:0000269|PubMed:15929998, ECO:0000269|PubMed:17034817, ECO:0000269|PubMed:17442338, ECO:0000269|PubMed:8573067}.
SimilarityBelongs to the aldo/keto reductase family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000305}.
Tissue SpecificityExpressed in fetal testes. Expressed in fetal and adult adrenal glands. {ECO:0000269|PubMed:21802064}.
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