HSD3B1

Also 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.

Gene data

HSD3B1

Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
Type: protein-coding
Position: 119,507,198–119,515,054 (+)
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

steroid biosynthetic process steroid biosynthetic process steroid biosynthetic process steroid biosynthetic process progesterone biosynthetic process androgen biosynthetic process androgen biosynthetic process estrogen biosynthetic process

Molecular function

3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity steroid Delta-isomerase activity steroid Delta-isomerase activity steroid Delta-isomerase activity protein binding

Cellular component

cytoplasm mitochondrial inner membrane mitochondrial intermembrane space endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum membrane smooth endoplasmic reticulum membrane mitochondrial membrane

Pathways

Steroid hormone biosynthesis - Homo sapiens (human)Ovarian steroidogenesis - Homo sapiens (human)Aldosterone synthesis and secretion - Homo sapiens (human)Cortisol synthesis and secretion - Homo sapiens (human)Cushing syndrome - Homo sapiens (human)Metabolism Androgen biosynthesis Mineralocorticoid biosynthesis Glucocorticoid biosynthesis Metabolism of steroid hormones

via MyGene.info

Wikidata facts

Show 5 more facts

exact match: identifiers.org/ncbigene/3283
HomoloGene ID: 133013
genomic start: 120049821
genomic end: 120057681
cytogenetic location: 1p12

Sources (4)

via Wikidata · CC0

~1 min read

Article

3 sections

Contents

Clinical significance
References
Further reading

==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.