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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Estradiol 17-beta-dehydrogenase 8; EC=; 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=;
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
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.6032-0.206 Picture PostScript Text
3' UTR -55.95177-0.316 Picture PostScript Text

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.

+  Protein Domain and Structure Information
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+  Orthologous Genes in Other Species
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+  Descriptions from all associated GenBank mRNAs
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-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00140 - Steroid hormone biosynthesis
hsa01100 - Metabolic pathways

+  Other Names for This Gene
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-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_014234.4
exon count: 9CDS single in 3' UTR: no RNA size: 1002
ORF size: 786CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1772.00frame shift in genome: no % Coverage: 99.30
has start codon: yes stop codon in genome: no # of Alignments: 6
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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+  Methods, Credits, and Use Restrictions
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