Human Gene HSD17B8 (uc011hgz.2) Description and Page Index
Description: Homo sapiens hydroxysteroid (17-beta) dehydrogenase 8 (HSD17B8), mRNA. RefSeq Summary (NM_014234): In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC008185.1, D82061.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## Transcript (Including UTRs) Position: chr6_mann_hap4:4,629,730-4,631,928 Size: 2,199 Total Exon Count: 9 Strand: + Coding Region Position: chr6_mann_hap4:4,629,762-4,631,751 Size: 1,990 Coding Exon Count: 9
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Comments and Description Text from UniProtKB
ID:DHB8_HUMAN DESCRIPTION: RecName: Full=Estradiol 17-beta-dehydrogenase 8; EC=18.104.22.168; AltName: Full=17-beta-hydroxysteroid dehydrogenase 8; Short=17-beta-HSD 8; AltName: Full=3-oxoacyl-[acyl-carrier-protein] reductase; EC=1.1.1.-; AltName: Full=Protein Ke6; Short=Ke-6; AltName: Full=Really interesting new gene 2 protein; AltName: Full=Testosterone 17-beta-dehydrogenase 8; EC=22.214.171.124; FUNCTION: NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol. Has very low activity towards testosterone. The heteroteramer with CBR4 has NADH-dependent 3- ketoacyl-acyl carrier protein reductase activity. May play a role in biosynthesis of fatty acids in mitochondria. CATALYTIC ACTIVITY: 17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H. CATALYTIC ACTIVITY: Testosterone + NAD(+) = androstenedione + NADH. PATHWAY: Steroid biosynthesis; estrogen biosynthesis. PATHWAY: Lipid metabolism; fatty acid biosynthesis. SUBUNIT: Heterotetramer with CBR4; contains two molecules of HSD17B8 and CBR4. SUBCELLULAR LOCATION: Mitochondrion matrix. TISSUE SPECIFICITY: Highly expressed in placenta, liver and pancreas, lower in the skeletal muscle and kidney. Widely expressed. INDUCTION: Up-regulated by estradiol. SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database: HSD17B8 CDC HuGE Published Literature: HSD17B8
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 Q92506
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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.