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
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
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
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]
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 P14061
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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.
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