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
  Press "+" in the title bar above to open this section.

-  Comments and Description Text from UniProtKB
  ID: DHB8_HUMAN
DESCRIPTION: RecName: Full=Estradiol 17-beta-dehydrogenase 8; EC=1.1.1.62; 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=1.1.1.239;
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

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
Ratios
      
      
      
     
    
     
Absolute
      
       
      
      
     
    
Ratios
      
       
      
      
     
    
Absolute
   
     
     
Ratios
   
     
     
Absolute

GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
Ratios
      
    
     
      
    
    
Absolute
      
      
      
Ratios
      
      
      
Absolute

-  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
  InterPro Domains: Graphical view of domain structure
IPR002198 - DH_sc/Rdtase_SDR
IPR002347 - Glc/ribitol_DH
IPR016040 - NAD(P)-bd_dom
IPR020904 - Sc_DH/Rdtase_CS

Pfam Domains:
PF00106 - short chain dehydrogenase

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains

Protein Data Bank (PDB) 3-D Structure

2PD6
- X-ray Chimera LS-SNP
Chimera help

ModBase Predicted Comparative 3D Structure on Q92506
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  BC008185 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 8, mRNA (cDNA clone MGC:17181 IMAGE:4213813), complete cds.
AB528151 - Synthetic construct DNA, clone: pF1KE0156, Homo sapiens HSD17B8 gene for hydroxysteroid (17-beta) dehydrogenase 8, without stop codon, in Flexi system.
AM393508 - Synthetic construct Homo sapiens clone IMAGE:100002015 for hypothetical protein (HSD17B8 gene).
CU678883 - Synthetic construct Homo sapiens gateway clone IMAGE:100018655 5' read HSD17B8 mRNA.
BT007239 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 8 mRNA, complete cds.
D82061 - Homo sapiens mRNA for a member of the short-chain alcohol dehydrogenase family, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00140 - Steroid hormone biosynthesis
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLX7, DHB8_HUMAN, FABGL, HKE6, NM_014234, NP_055049, Q5STP7, Q92506, Q9UIQ1, RING2, uc011hgz.1
UCSC ID: uc011hgz.2
RefSeq Accession: NM_014234
Protein: Q92506 (aka DHB8_HUMAN