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Gene Review

HSD17B1  -  hydroxysteroid (17-beta) dehydrogenase 1

Homo sapiens

Synonyms: 17-beta-HSD 1, 17-beta-hydroxysteroid dehydrogenase type 1, 20 alpha-hydroxysteroid dehydrogenase, 20-alpha-HSD, E17KSR, ...
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Disease relevance of HSD17B1


Psychiatry related information on HSD17B1


High impact information on HSD17B1


Chemical compound and disease context of HSD17B1


Biological context of HSD17B1

  • However, reporter gene analysis revealed that the influence of Ro41 on the transcription of the HSD17B1 gene, which encodes 17HSD1, is considerably milder in JEG-3 cells, and it only additively enhanced the effect of at-RA [13].
  • RESULTS: Individuals having at least one A-allele (A/G or A/A genotype) of HSD17B1 showed a significantly increased risk of endometriosis (A/G genotype: adjusted OR, 3.06; 95%CI 1.21-7.74; A/A genotype: adjusted OR, 3.02; 95%CI 1.08-8.43) [2].
  • These data implicate the involvement of the cAMP-protein kinase signal transduction pathway in regulating lymphocyte expression of HSD17B1 [14].
  • The human estradiol 17 beta-hydroxysteroid dehydrogenase II (17 beta-HSD II) gene has been assigned by somatic cell hybridization to chromosome 17q11-q21, near the region of assignment of the gene BRCA1, which is involved in hereditary breast-ovarian cancer [15].
  • The nucleotide sequence of 17 beta-HSD II was completely determined in four unrelated individuals [15].

Anatomical context of HSD17B1


Associations of HSD17B1 with chemical compounds


Physical interactions of HSD17B1

  • CONCLUSIONS: The helices present in 17 beta-HSD that were not in the two previous short-chain dehydrogenase structures are located at one end of the substrate-binding cleft away from the catalytic triad [20].

Enzymatic interactions of HSD17B1


Other interactions of HSD17B1

  • In all, 32 tumors (14.5%) showed amplification of HSD17B1 and 21% were amplified for ERBB2 [1].
  • Treatment with 10 or 50 microM forskolin resulted in a 20-60% reduction of expression for HSD17B1 (encoding 17beta-HSD I) in T and B lymphoid cell lines and peripheral blood mononuclear cells, although such a change was not observed in the expression of SRD5A1 (encoding 5alpha-reductase I) [14].
  • The 17 beta-HSD3 gene is mutated in male pseudohermaphrodites with the genetic disease 17 beta-HSD deficiency [17].
  • 17 beta-HSD5 was the predominant androgenic form of 17 beta-HSD expressed in human ovary [23].
  • METHODS: We used primers specific for each type of 17 beta-HSD to identify quantitatively and directly sequence the polymerase chain reaction products of a human ovary library [23].

Analytical, diagnostic and therapeutic context of HSD17B1


  1. Amplification of HSD17B1 and ERBB2 in primary breast cancer. Gunnarsson, C., Ahnström, M., Kirschner, K., Olsson, B., Nordenskjöld, B., Rutqvist, L.E., Skoog, L., Stål, O. Oncogene (2003) [Pubmed]
  2. Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19. Tsuchiya, M., Nakao, H., Katoh, T., Sasaki, H., Hiroshima, M., Tanaka, T., Matsunaga, T., Hanaoka, T., Tsugane, S., Ikenoue, T. Hum. Reprod. (2005) [Pubmed]
  3. Molecular expression of 17 beta hydroxysteroid dehydrogenase types in relation to their activity in intact human prostate cancer cells. Carruba, G., Adamski, J., Calabrò, M., Miceli, M.D., Cataliotti, A., Bellavia, V., Lo Bue, A., Polito, L., Castagnetta, L.A. Mol. Cell. Endocrinol. (1997) [Pubmed]
  4. Human placental 17 beta-hydroxysteroid dehydrogenase is homologous to NodG protein of Rhizobium meliloti. Baker, M.E. Mol. Endocrinol. (1989) [Pubmed]
  5. Retinoid receptors in the human endometrium and its disorders: a possible modulator of 17 beta-hydroxysteroid dehydrogenase. Ito, K., Suzuki, T., Moriya, T., Utsunomiya, H., Sugawara, A., Konno, R., Sato, S., Sasano, H. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  6. Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy. Gross, D.J., Landau, H., Kohn, G., Farkas, A., Elrayyes, E., el-Shawwa, R., Lasch, E.E., Rösler, A. Acta Endocrinol. (1986) [Pubmed]
  7. Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Geissler, W.M., Davis, D.L., Wu, L., Bradshaw, K.D., Patel, S., Mendonca, B.B., Elliston, K.O., Wilson, J.D., Russell, D.W., Andersson, S. Nat. Genet. (1994) [Pubmed]
  8. Human endometrial adenocarcinoma transplanted into nude mice: growth regulation by estradiol. Satyaswaroop, P.G., Zaino, R.J., Mortel, R. Science (1983) [Pubmed]
  9. 17 beta-Hydroxysteroid dehydrogenase type 2: chromosomal assignment and progestin regulation of gene expression in human endometrium. Casey, M.L., MacDonald, P.C., Andersson, S. J. Clin. Invest. (1994) [Pubmed]
  10. Synthesis of 16-(bromoalkyl)-estradiols having inhibitory effect on human placental estradiol 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD type 1). Tremblay, M.R., Auger, S., Poirier, D. Bioorg. Med. Chem. (1995) [Pubmed]
  11. Paradoxical effect of estradiol: it can block its own bioformation in human breast cancer cells. Pasqualini, J.R., Chetrite, G. J. Steroid Biochem. Mol. Biol. (2001) [Pubmed]
  12. Aromatase, 17 beta-hydroxysteroid dehydrogenase and intratissular sex hormone concentrations in cancerous and normal glandular breast tissue in postmenopausal women. Vermeulen, A., Deslypere, J.P., Paridaens, R., Leclercq, G., Roy, F., Heuson, J.C. European journal of cancer & clinical oncology. (1986) [Pubmed]
  13. Retinoic acids promote the action of aromatase and 17beta-hydroxysteroid dehydrogenase type 1 on the biosynthesis of 17beta-estradiol in placental cells. Zhu, S.J., Li, Y., Li, H., Wang, Y.L., Xiao, Z.J., Vihko, P., Piao, Y.S. J. Endocrinol. (2002) [Pubmed]
  14. Regulation of HSD17B1 and SRD5A1 in lymphocytes. Zhou, Z., Speiser, P.W. Mol. Genet. Metab. (1999) [Pubmed]
  15. Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21. Normand, T., Narod, S., Labrie, F., Simard, J. Hum. Mol. Genet. (1993) [Pubmed]
  16. Human ovarian expression of 17 beta-hydroxysteroid dehydrogenase types 1, 2, and 3. Zhang, Y., Word, R.A., Fesmire, S., Carr, B.R., Rainey, W.E. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  17. The molecular biology of androgenic 17 beta-hydroxysteroid dehydrogenases. Andersson, S., Geissler, W.M., Patel, S., Wu, L. J. Steroid Biochem. Mol. Biol. (1995) [Pubmed]
  18. Expression cloning and characterization of human 17 beta-hydroxysteroid dehydrogenase type 2, a microsomal enzyme possessing 20 alpha-hydroxysteroid dehydrogenase activity. Wu, L., Einstein, M., Geissler, W.M., Chan, H.K., Elliston, K.O., Andersson, S. J. Biol. Chem. (1993) [Pubmed]
  19. Expression of types 1, 2, and 3 17 beta-hydroxysteroid dehydrogenase in subcutaneous abdominal and intra-abdominal adipose tissue of women. Corbould, A.M., Judd, S.J., Rodgers, R.J. J. Clin. Endocrinol. Metab. (1998) [Pubmed]
  20. Structure of human estrogenic 17 beta-hydroxysteroid dehydrogenase at 2.20 A resolution. Ghosh, D., Pletnev, V.Z., Zhu, D.W., Wawrzak, Z., Duax, W.L., Pangborn, W., Labrie, F., Lin, S.X. Structure (1995) [Pubmed]
  21. Regulation of aromatase cytochrome P-450 and 17 beta-hydroxysteroid dehydrogenase messenger ribonucleic acid levels in choriocarcinoma cells. Ritvos, O., Voutilainen, R. Endocrinology (1992) [Pubmed]
  22. Characterization of 17 beta-hydroxysteroid dehydrogenase activity and mRNA abundance in human meningioma tumors. Carsol, J.L., Martin, P.M., de Launoit, Y. Neuroendocrinology (1994) [Pubmed]
  23. Expression of 17 beta-hydroxysteroid dehydrogenase type 5 in human ovary: a pilot study. Qin, K.N., Rosenfield, R.L. J. Soc. Gynecol. Investig. (2000) [Pubmed]
  24. Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. Feigelson, H.S., Cox, D.G., Cann, H.M., Wacholder, S., Kaaks, R., Henderson, B.E., Albanes, D., Altshuler, D., Berglund, G., Berrino, F., Bingham, S., Buring, J.E., Burtt, N.P., Calle, E.E., Chanock, S.J., Clavel-Chapelon, F., Colditz, G., Diver, W.R., Freedman, M.L., Haiman, C.A., Hankinson, S.E., Hayes, R.B., Hirschhorn, J.N., Hunter, D., Kolonel, L.N., Kraft, P., LeMarchand, L., Linseisen, J., Modi, W., Navarro, C., Peeters, P.H., Pike, M.C., Riboli, E., Setiawan, V.W., Stram, D.O., Thomas, G., Thun, M.J., Tjonneland, A., Trichopoulos, D. Cancer Res. (2006) [Pubmed]
  25. Building a multigenic model of breast cancer susceptibility: CYP17 and HSD17B1 are two important candidates. Feigelson, H.S., McKean-Cowdin, R., Coetzee, G.A., Stram, D.O., Kolonel, L.N., Henderson, B.E. Cancer Res. (2001) [Pubmed]
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