Human Gene HSD17B3 (ENST00000375263.8) from GENCODE V44
  Description: Homo sapiens hydroxysteroid 17-beta dehydrogenase 3 (HSD17B3), mRNA. (from RefSeq NM_000197)
RefSeq Summary (NM_000197): This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000375263.8
Gencode Gene: ENSG00000130948.10
Transcript (Including UTRs)
   Position: hg38 chr9:96,235,306-96,302,176 Size: 66,871 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr9:96,235,460-96,302,104 Size: 66,645 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:96,235,306-96,302,176)mRNA (may differ from genome)Protein (310 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q6FH62_HUMAN
DESCRIPTION: SubName: Full=HSD17B3 protein; SubName: Full=Hydroxysteroid (17-beta) dehydrogenase 3;
SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HSD17B3
Diseases sorted by gene-association score: pseudohermaphroditism, male, with gynecomastia* (1650), gynecomastia (45), pseudohermaphroditism (32), hypospadias (14), leydig cell hypoplasia (10), sex differentiation disease (5)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.57 RPKM in Testis
Total median expression: 76.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.7072-0.246 Picture PostScript Text
3' UTR -52.40154-0.340 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

ModBase Predicted Comparative 3D Structure on Q6FH62
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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 Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016491 oxidoreductase activity
GO:0047045 testosterone 17-beta-dehydrogenase (NADP+) activity

Biological Process:
GO:0030539 male genitalia development
GO:0055114 oxidation-reduction process
GO:0061370 testosterone biosynthetic process


-  Descriptions from all associated GenBank mRNAs
  BC034281 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3, mRNA (cDNA clone MGC:34508 IMAGE:5168012), complete cds.
U05659 - Human 17beta-hydroxysteroid dehydrogenase type 3 mRNA, complete cds.
JD179239 - Sequence 160263 from Patent EP1572962.
JD541026 - Sequence 522050 from Patent EP1572962.
JD470351 - Sequence 451375 from Patent EP1572962.
JD067439 - Sequence 48463 from Patent EP1572962.
JD096861 - Sequence 77885 from Patent EP1572962.
KJ891397 - Synthetic construct Homo sapiens clone ccsbBroadEn_00791 HSD17B3 gene, encodes complete protein.
KR710806 - Synthetic construct Homo sapiens clone CCSBHm_00017262 HSD17B3 (HSD17B3) mRNA, encodes complete protein.
KR710807 - Synthetic construct Homo sapiens clone CCSBHm_00017266 HSD17B3 (HSD17B3) mRNA, encodes complete protein.
KR710808 - Synthetic construct Homo sapiens clone CCSBHm_00017268 HSD17B3 (HSD17B3) mRNA, encodes complete protein.
KR710809 - Synthetic construct Homo sapiens clone CCSBHm_00017280 HSD17B3 (HSD17B3) mRNA, encodes complete protein.
BT019371 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 mRNA, complete cds.
CR541894 - Homo sapiens full open reading frame cDNA clone RZPDo834D0833D for gene HSD17B3, hydroxysteroid (17-beta) dehydrogenase 3; complete cds, incl. stopcodon.
DQ891812 - Synthetic construct clone IMAGE:100004442; FLH180167.01X; RZPDo839G10132D hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) gene, encodes complete protein.
DQ894995 - Synthetic construct Homo sapiens clone IMAGE:100009455; FLH180163.01L; RZPDo839G10131D hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) gene, encodes complete protein.
KU178130 - Homo sapiens hydroxysteroid dehydrogenase 3 isoform 1 (HSD17B3) mRNA, partial cds.
KU178131 - Homo sapiens hydroxysteroid dehydrogenase 3 isoform 2 (HSD17B3) mRNA, complete cds, alternatively spliced.
KU178132 - Homo sapiens hydroxysteroid dehydrogenase 3 isoform 3 (HSD17B3) mRNA, complete cds, alternatively spliced.
KU178133 - Homo sapiens hydroxysteroid dehydrogenase 3 isoform 4 (HSD17B3) mRNA, complete cds, alternatively spliced.
KU178134 - Homo sapiens hydroxysteroid dehydrogenase 3 isoform 5 (HSD17B3) mRNA, complete cds, alternatively spliced.
CU689848 - Synthetic construct Homo sapiens gateway clone IMAGE:100023280 5' read HSD17B3 mRNA.
JD154642 - Sequence 135666 from Patent EP1572962.

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

BioCyc Knowledge Library
PWY-7305 - superpathway of steroid hormone biosynthesis
PWY-8202 - 11-oxyandrogens biosynthesis
PWY66-378 - androgen biosynthesis
PWY66-380 - estradiol biosynthesis I (via estrone)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000375263.1, ENST00000375263.2, ENST00000375263.3, ENST00000375263.4, ENST00000375263.5, ENST00000375263.6, ENST00000375263.7, hCG_33005, NM_000197, Q6FH62, Q6FH62_HUMAN, RP11-240L7.3-005, uc004awa.1, uc004awa.2, uc004awa.3
UCSC ID: ENST00000375263.8
RefSeq Accession: NM_000197
Protein: Q6FH62 CCDS: CCDS6716.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.