Human Gene HSD17B6 (ENST00000555159.5) from GENCODE V43
Description: NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3- alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha- androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids. (from UniProt O14756) RefSeq Summary (NM_003725): The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]. Gencode Transcript: ENST00000555159.5 Gencode Gene: ENSG00000025423.11 Transcript (Including UTRs) Position: hg38 chr12:56,752,161-56,787,736 Size: 35,576 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr12:56,773,853-56,787,342 Size: 13,490 Coding Exon Count: 4
ID:H17B6_HUMAN DESCRIPTION: RecName: Full=17-beta-hydroxysteroid dehydrogenase type 6; Short=17-beta-HSD 6; Short=17-beta-HSD6; EC=1.1.1.105; EC=1.1.1.62; EC=1.1.1.63; AltName: Full=3-alpha->beta-hydroxysteroid epimerase; Short=3-alpha->beta-HSE; AltName: Full=Oxidative 3-alpha hydroxysteroid dehydrogenase; Flags: Precursor; FUNCTION: NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3- alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha- androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids. CATALYTIC ACTIVITY: Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H. CATALYTIC ACTIVITY: Testosterone + NAD(+) = androst-4-ene-3,17- dione + NADH. CATALYTIC ACTIVITY: All-trans-retinol-[cellular-retinol-binding- protein] + NAD(+) = all-trans-retinal-[cellular-retinol-binding- protein] + NADH. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.19 uM for NAD; KM=0.18 uM for NADH; KM=54 uM for NADPH; KM=940 uM for NADP; KM=3.2 uM for all-trans-retinol; KM=0.24 uM for allopregnanolone; KM=0.13 uM for 3-alpha-androstanediol; KM=0.23 uM for androsterone; KM=0.13 uM for dehydroepiandrosterone; Vmax=1.2 nmol/min/mg enzyme with all-trans-retinol; Vmax=14.7 nmol/min/mg enzyme with allopregnanolone; Vmax=16.5 nmol/min/mg enzyme with 3-alpha-androstanediol; Vmax=35 nmol/min/mg enzyme with androsterone; Vmax=0.90 nmol/min/mg enzyme with dehydroepiandrosterone; Note=The kinetic parameters were determined using microsomes from transfected cells; SUBCELLULAR LOCATION: Microsome membrane; Peripheral membrane protein; Lumenal side. Early endosome membrane; Peripheral membrane protein; Lumenal side (Potential). TISSUE SPECIFICITY: Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta, prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at lower levels in amygdala, corpus callosum, hippocampus, substantia nigra and thalamus. Detected in fetal lung, liver and brain. SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family. SEQUENCE CAUTION: Sequence=AAB88252.1; Type=Frameshift; Positions=158, 174;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O14756
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006629 lipid metabolic process GO:0006702 androgen biosynthetic process GO:0006710 androgen catabolic process GO:0008202 steroid metabolic process GO:0022900 electron transport chain GO:0055114 oxidation-reduction process
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