Human Gene HSD17B1 (uc002hzw.3) Description and Page Index
  Description: Homo sapiens hydroxysteroid (17-beta) dehydrogenase 1 (HSD17B1), mRNA.
RefSeq Summary (NM_000413): This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
Transcript (Including UTRs)
   Position: hg19 chr17:40,703,984-40,707,232 Size: 3,249 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr17:40,704,952-40,706,956 Size: 2,005 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:40,703,984-40,707,232)mRNA (may differ from genome)Protein (328 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Estradiol 17-beta-dehydrogenase 1; EC=; AltName: Full=17-beta-hydroxysteroid dehydrogenase type 1; Short=17-beta-HSD 1; AltName: Full=20 alpha-hydroxysteroid dehydrogenase; Short=20-alpha-HSD; AltName: Full=E2DH; AltName: Full=Placental 17-beta-hydroxysteroid dehydrogenase;
FUNCTION: Favors the reduction of estrogens and androgens. Also has 20-alpha-HSD activity. Uses preferentially NADH.
CATALYTIC ACTIVITY: Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H.
PATHWAY: Steroid biosynthesis; estrogen biosynthesis.
SUBUNIT: Homodimer.
SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family.
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HSD17B1
CDC HuGE Published Literature: HSD17B1
Positive Disease Associations: breast cancer , diabetes, type 2 insulin metabolic syndrome , endometrial cancer , endometriosis , estramustine phospate side-effects , estrogens
Related Studies:
  1. breast cancer
    Wu, A. H. et al. 2003, HSD17B1 and CYP17 polymorphisms and breast cancer risk among Chinese women in Singapore, International journal of cancer. Journal international du cancer. 2003 Apr;104(4):450-7. [PubMed 12584742]
    We observed an elevated joint effect of the CYP17 and HSD17B1 genes on risk
  2. breast cancer
    Wu AH 2003, HSD17B1 and CYP17 polymorphisms and breast cancer risk among Chinese women in Singapore, International journal of cancer. Journal international du cancer. 2003 Apr;104(4):450-7. [PubMed 12584742]
    We observed an elevated joint effect of the CYP17 and HSD17B1 genes on risk
  3. diabetes, type 2 insulin metabolic syndrome
    Lo, J. C. et al. 2006, The association of genetic polymorphisms in sex hormone biosynthesis and action with insulin sensitivity and diabetes mellitus in women at midlife, Am J Med 2006 119(9 Suppl 1) S69-78. [PubMed 16949391]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: HSD17B1
Diseases sorted by gene-association score: acute t cell leukemia (12), endometriosis (8), acute closed-angle glaucoma (7), breast cancer (2), prostate cancer (2), testicular germ cell tumor (2)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.46 RPKM in Brain - Cerebellum
Total median expression: 132.90 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 -377.82968-0.390 Picture PostScript Text
3' UTR -106.90276-0.387 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
IPR011348 - 17beta_DH
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
PF08659 - KR domain
PF13561 - Enoyl-(Acyl carrier protein) reductase

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

- X-ray

- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1EQU - X-ray 1FDS - X-ray MuPIT 1FDT - X-ray MuPIT
1FDU - X-ray MuPIT 1FDV - X-ray MuPIT 1FDW - X-ray MuPIT
1I5R - X-ray MuPIT 1IOL - X-ray 1JTV - X-ray
1QYV - X-ray 1QYW - X-ray 1QYX - X-ray
3DEY - X-ray 3DHE - X-ray 3HB4 - X-ray
3HB5 - X-ray 3KLM - X-ray 3KLP - X-ray
3KM0 - X-ray

ModBase Predicted Comparative 3D Structure on P14061
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
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Protein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004303 estradiol 17-beta-dehydrogenase activity
GO:0005496 steroid binding
GO:0016491 oxidoreductase activity
GO:0070401 NADP+ binding
GO:1903924 estradiol binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006694 steroid biosynthetic process
GO:0006703 estrogen biosynthetic process
GO:0008210 estrogen metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  LF212454 - JP 2014500723-A/19957: Polycomb-Associated Non-Coding RNAs.
AK127832 - Homo sapiens cDNA FLJ45935 fis, clone PLACE7003985, highly similar to Estradiol 17-beta-dehydrogenase 1 (EC
JD539400 - Sequence 520424 from Patent EP1572962.
JD543887 - Sequence 524911 from Patent EP1572962.
JD334015 - Sequence 315039 from Patent EP1572962.
JD094648 - Sequence 75672 from Patent EP1572962.
JD050621 - Sequence 31645 from Patent EP1572962.
JD406548 - Sequence 387572 from Patent EP1572962.
JD400311 - Sequence 381335 from Patent EP1572962.
JD127132 - Sequence 108156 from Patent EP1572962.
AK316292 - Homo sapiens cDNA, FLJ79191 complete cds, highly similar to Estradiol 17-beta-dehydrogenase 1 (EC
JD373789 - Sequence 354813 from Patent EP1572962.
JD477838 - Sequence 458862 from Patent EP1572962.
JD182264 - Sequence 163288 from Patent EP1572962.
BC111935 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 1, mRNA (cDNA clone MGC:138140 IMAGE:8327403), complete cds.
BC104752 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 1, mRNA (cDNA clone MGC:132412 IMAGE:8143755), complete cds.
JD383796 - Sequence 364820 from Patent EP1572962.
AK300159 - Homo sapiens cDNA FLJ57084 complete cds, highly similar to Estradiol 17-beta-dehydrogenase 1 (EC
AK300143 - Homo sapiens cDNA FLJ57082 complete cds, moderately similar to Estradiol 17-beta-dehydrogenase 1 (EC
AK300452 - Homo sapiens cDNA FLJ50217 complete cds, highly similar to Estradiol 17-beta-dehydrogenase 1 (EC
M36263 - Human placental 17-beta-hydroxysteroid dehydrogenase mRNA, complete cds.
X13440 - Human mRNA for 17-beta-hydroxysteroid dehydrogenase (17-HSD) (EC
KJ897010 - Synthetic construct Homo sapiens clone ccsbBroadEn_06404 HSD17B1 gene, encodes complete protein.
KR711992 - Synthetic construct Homo sapiens clone CCSBHm_00034521 HSD17B1 (HSD17B1) mRNA, encodes complete protein.
DQ469954 - Homo sapiens hydroxysteroid (17-beta) dehydrogenase 1 isoform mRNA, complete cds.
LF213270 - JP 2014500723-A/20773: Polycomb-Associated Non-Coding RNAs.
JD213705 - Sequence 194729 from Patent EP1572962.
JD391112 - Sequence 372136 from Patent EP1572962.
JD231742 - Sequence 212766 from Patent EP1572962.
JD545885 - Sequence 526909 from Patent EP1572962.
JD406613 - Sequence 387637 from Patent EP1572962.
JD543889 - Sequence 524913 from Patent EP1572962.
JD543890 - Sequence 524914 from Patent EP1572962.
JD480655 - Sequence 461679 from Patent EP1572962.
JD467135 - Sequence 448159 from Patent EP1572962.
JD547719 - Sequence 528743 from Patent EP1572962.
JD140337 - Sequence 121361 from Patent EP1572962.
JD560080 - Sequence 541104 from Patent EP1572962.
JD329027 - Sequence 310051 from Patent EP1572962.
JD319162 - Sequence 300186 from Patent EP1572962.
JD382454 - Sequence 363478 from Patent EP1572962.
JD176642 - Sequence 157666 from Patent EP1572962.
JD067122 - Sequence 48146 from Patent EP1572962.
MA448031 - JP 2018138019-A/19957: Polycomb-Associated Non-Coding RNAs.
MA448847 - JP 2018138019-A/20773: Polycomb-Associated Non-Coding RNAs.

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

BioCyc Knowledge Library
PWY3DJ-2 - biosynthesis of estrogens

Reactome (by CSHL, EBI, and GO)

Protein P14061 (Reactome details) participates in the following event(s):

R-HSA-804969 HSD17B1 hydrogenates E1 to EST17b
R-HSA-2464803 RDH8 reduces atRAL to atROL
R-HSA-193144 Estrogen biosynthesis
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)
R-HSA-196071 Metabolism of steroid hormones
R-HSA-209943 Steroid hormones
R-HSA-2187338 Visual phototransduction
R-HSA-8957322 Metabolism of steroids
R-HSA-418594 G alpha (i) signalling events
R-HSA-556833 Metabolism of lipids
R-HSA-388396 GPCR downstream signalling
R-HSA-1430728 Metabolism
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B3KXS1, DHB1_HUMAN, E17KSR, EDH17B1, EDH17B2, EDHB17, NM_000413, NP_000404, P14061, Q2M2L8
UCSC ID: uc002hzw.3
RefSeq Accession: NM_000413
Protein: P14061 (aka DHB1_HUMAN)
CCDS: CCDS11428.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_000413.2
exon count: 6CDS single in 3' UTR: no RNA size: 2248
ORF size: 987CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1638.50frame shift in genome: no % Coverage: 99.24
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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