HSD3B1

Last updated
HSD3B1
Identifiers
Aliases HSD3B1 , 3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
External IDs OMIM: 109715; MGI: 109598; HomoloGene: 133013; GeneCards: HSD3B1; OMA:HSD3B1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000862
NM_001328615

NM_013821

RefSeq (protein)

NP_000853
NP_001315544

NP_038849

Location (UCSC) Chr 1: 119.51 – 119.52 Mb Chr 3: 98.71 – 98.72 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

HSD3B1 is a human gene that encodes for a 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type I or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1. [5] While it can carry out the same function as HSD3B2, it localizes primarily to different tissues, such as the placenta and nonsteroidogenic tissues. Its requirement for the production of progesterone by the placenta, which has a vital role in pregnancy, may be one reason why no disease based on mutations in this gene has been identified to date, besides prostate cancer.

Contents

Clinical significance

The 1245C allele (HSD3B1 adrenal-permissive homozygous genotype 1245 C/C) encodes for a missense and hyperactive enzyme that increases extragonadal androgen synthesis and is associated with poorer outcomes after androgen deprivation therapy in prostate cancer. [6] [7] [8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000203857 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027869 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: HSD3B1 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1".
  6. Taneja SS (January 2017). "Re: HSD3B1 and Resistance to Androgen-Deprivation Therapy in Prostate Cancer: A Retrospective, Multicohort Study". The Journal of Urology. 197 (1): 150. doi:10.1016/j.juro.2016.10.045. PMID   27979506.
  7. Hearn, Jason (October 2016). "HSD3B1 and resistance to androgen-deprivation therapy in prostate cancer: a retrospective, multicohort study". Lancet Oncology. 17 (10): 1435–1444. doi:10.1016/S1470-2045(16)30227-3. PMC   5135009 . PMID   27575027.
  8. McKay, Rana R.; Nelson, Tyler J.; Pagadala, Meghana S.; Teerlink, Craig C.; Gao, Anthony; Bryant, Alex K.; Agiri, Fatai Y.; Guram, Kripa; Thompson, Reid F.; Pridgen, Kathryn M.; Seibert, Tyler M.; Lee, Kyung Min; Carter, Hannah; Lynch, Julie A.; Hauger, Richard L. (2024-03-20). "Adrenal-Permissive Germline HSD3B1 Allele and Prostate Cancer Outcomes". JAMA Network Open. 7 (3): e242976. doi:10.1001/jamanetworkopen.2024.2976. ISSN   2574-3805. PMC   10955379 . PMID   38506808.

[1]

Further reading


  1. Chang, Kai-Hsiung (August 2013). "A gain-of-function mutation in DHT synthesis in castration-resistant prostate cancer". Cell. 154 (5): 1074–1084. doi:10.1016/j.cell.2013.07.029. PMC   3931012 . PMID   23993097.