LMPD Database

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LMP000324

UniProt Annotations

Entry Information
Gene Namehydroxysteroid (17-beta) dehydrogenase 10
Protein EntryHCD2_HUMAN
UniProt IDQ99714
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99714-1; Sequence=Displayed; Name=2; IsoId=Q99714-2; Sequence=VSP_007830; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=25.7 uM for acetoacetyl-CoA (in the presence of 0.2 mM NADH, at pH 7.0 and 25 degrees Celsius) ; KM=85.2 uM for beta-hydroxybutyryl-CoA (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=41 uM for androsterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=5 uM for 5-alpha-pregnan-20-beta-ol-3-one (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=219 uM for isoursodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=36.4 uM for chenodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=1.7 uM for dehydrocorticosterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=30.6 uM for NADH (in the presence of acetoacetyl-CoA, at pH 7.0 and 25 degrees Celsius) ; KM=42.3 uM for NAD (in the presence of beta-hydroxybutyryl-CoA, at pH 9.3 and 25 degrees Celsius) ; pH dependence: Optimum pH is 9.3 for the dehydrogenase reaction at 25 degrees Celsius, and 7.0 for the reductase reaction at 25 degrees Celsius. ;
Catalytic Activity(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methylacetoacetyl-CoA + NADH.
Catalytic Activity(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
Catalytic ActivityTestosterone + NAD(P)(+) = androst-4-ene-3,17- dione + NAD(P)H.
Disease2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM
DiseaseMental retardation, X-linked 17 (MRX17) [MIM
DiseaseMental retardation, X-linked, syndromic, 10 (MRXS10) [MIM
FunctionFunctions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. Catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha-hydroxysteroid dehydrogenase activity with androsterone. Catalyzes the third step in the beta-oxidation of fatty acids. Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids. Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). {ECO
InteractionP05067:APP; NbExp=4; IntAct=EBI-79964, EBI-77613; Q7L0Y3:TRMT10C; NbExp=4; IntAct=EBI-79964, EBI-2107046;
SimilarityBelongs to the short-chain dehydrogenases/reductases (SDR) family.
Subcellular LocationMitochondrion {ECO
SubunitHomotetramer (By similarity). Interacts with MRPP1/TRMT10C and MRPP3/KIAA0391. {ECO
Tissue SpecificityUbiquitously expressed in normal tissues but is overexpressed in neurons affected in AD.