HSD3B1
Sign in to saveAlso known as 3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
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. 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.
In the Vinony graph
Within Vinony's link graph, HSD3B1 is referenced by 51 other articles, and connects out to PubMed, human chromosome 1 and Ensembl genome database project.
It is catalogued under topics including Genes on human chromosome 1 and Long stubs with short prose.
Its subject is documented across 6 Wikipedia language editions.
Gene data
HSD3B1- Name
- hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
- Type
- protein-coding
- Position
- 119,493,057–119,529,426 (+)
- Aliases
- 3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
- Ensembl
- ENSG00000203857
- RefSeq RNA
- NM_000862.3, NM_001328615.1
- RefSeq protein
- NP_000853.1, NP_001315544.1
The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
- Symbol
- HSD3B1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:119,493,057-119,529,426
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- exact match
- identifiers.org/ncbigene/3283
- HomoloGene ID
- 133013
- found in taxon
- Homo sapiens
- chromosome
- human chromosome 1
- genomic start
- 120049821
- genomic end
- 120057681
- cytogenetic location
- 1p12
- expressed in
- islet of Langerhans
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- Clinical significance
- References
- Further reading
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. 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.
==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.
Excerpted from Wikipedia’s “HSD3B1” article, available under the CC BY-SA 4.0 licence.