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
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 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]

Related Research Articles

<span class="mw-page-title-main">11β-Hydroxysteroid dehydrogenase type 1</span> Mammalian protein found in Homo sapiens

11β-Hydroxysteroid dehydrogenase type 1, also known as cortisone reductase, is an NADPH-dependent enzyme highly expressed in key metabolic tissues including liver, adipose tissue, and the central nervous system. In these tissues, HSD11B1 reduces cortisone to the active hormone cortisol that activates glucocorticoid receptors. It belongs to the family of short-chain dehydrogenases. It is encoded by the HSD11B1 gene.

3β-Hydroxysteroid dehydrogenase/Δ5-4 isomerase (3β-HSD) is an enzyme that catalyzes the biosynthesis of the steroid progesterone from pregnenolone, 17α-hydroxyprogesterone from 17α-hydroxypregnenolone, and androstenedione from dehydroepiandrosterone (DHEA) in the adrenal gland. It is the only enzyme in the adrenal pathway of corticosteroid synthesis that is not a member of the cytochrome P450 family. It is also present in other steroid-producing tissues, including the ovary, testis and placenta. In humans, there are two 3β-HSD isozymes encoded by the HSD3B1 and HSD3B2 genes.

17β-Hydroxysteroid dehydrogenases, also 17-ketosteroid reductases (17-KSR), are a group of alcohol oxidoreductases which catalyze the reduction of 17-ketosteroids and the dehydrogenation of 17β-hydroxysteroids in steroidogenesis and steroid metabolism. This includes interconversion of DHEA and androstenediol, androstenedione and testosterone, and estrone and estradiol.

<span class="mw-page-title-main">SRD5A2</span> Protein-coding gene in the species Homo sapiens

The human gene SRD5A2 encodes the 3-oxo-5α-steroid 4-dehydrogenase 2 enzyme, also known as 5α-reductase type 2 (5αR2), one of three isozymes of 5α-reductase.

<span class="mw-page-title-main">HSD17B1</span> Protein-coding gene in the species Homo sapiens

17β-Hydroxysteroid dehydrogenase 1 (17β-HSD1) is an enzyme that in humans is encoded by the HSD17B1 gene. This enzyme oxidizes or reduces the C17 hydroxy/keto group of androgens and estrogens and hence is able to regulate the potency of these sex steroids

<span class="mw-page-title-main">HSD3B2</span> Protein-coding gene in the species Homo sapiens

HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. It is expressed principally in steroidogenic tissues and is essential for steroid hormone production. A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.

<span class="mw-page-title-main">AKR1C3</span> Protein-coding gene in the species Homo sapiens

Aldo-keto reductase family 1 member C3 (AKR1C3), also known as 17β-hydroxysteroid dehydrogenase type 5 is a key steroidogenic enzyme that in humans is encoded by the AKR1C3 gene.

<span class="mw-page-title-main">AKR1C1</span> Protein-coding gene in the species Homo sapiens

Aldo-keto reductase family 1 member C1 also known as 20α-hydroxysteroid dehydrogenase, 3α-hydroxysteroid dehydrogenase, and dihydrodiol dehydrogenase 1/2 is an enzyme that in humans is encoded by the AKR1C1 gene.

<span class="mw-page-title-main">HSD17B4</span> Protein-coding gene in the species Homo sapiens

D-bifunctional protein (DBP), also known as peroxisomal multifunctional enzyme type 2 (MFP-2), as well as 17β-hydroxysteroid dehydrogenase type IV is a protein that in humans is encoded by the HSD17B4 gene. It's an alcohol oxidoreductase, specifically 17β-Hydroxysteroid dehydrogenase. It is involved in fatty acid β-oxidation and steroid metabolism.

<span class="mw-page-title-main">HSD17B2</span> Protein-coding gene in the species Homo sapiens

17β-Hydroxysteroid dehydrogenase 2 (17β-HSD2) is an enzyme of the 17β-hydroxysteroid dehydrogenase (17β-HSD) family that in humans is encoded by the HSD17B2 gene.

<span class="mw-page-title-main">3α-Hydroxysteroid dehydrogenase</span> Protein-coding gene in the species Homo sapiens

3α-Hydroxysteroid dehydrogenase is an enzyme that in humans is encoded by the AKR1C4 gene. It is known to be necessary for the synthesis of the endogenous neurosteroids allopregnanolone, THDOC, and 3α-androstanediol. It is also known to catalyze the reversible conversion of 3α-androstanediol (5α-androstane-3α,17β-diol) to dihydrotestosterone and vice versa.

<span class="mw-page-title-main">HSD17B3</span> Protein-coding gene in the species Homo sapiens

17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) is an enzyme that in humans is encoded by the HSD17B3 gene and is involved in androgen steroidogenesis.

<span class="mw-page-title-main">HSD17B12</span> Protein-coding gene in the species Homo sapiens

Estradiol 17-beta-dehydrogenase 12 is an enzyme that in humans is encoded by the HSD17B12 gene.

<span class="mw-page-title-main">HSD17B6</span>

Hydroxysteroid 17-beta dehydrogenase 6 is an enzyme that in humans is encoded by the HSD17B6 gene.

<span class="mw-page-title-main">Epiandrosterone</span> Chemical compound

Epiandrosterone, or isoandrosterone, also known as 3β-androsterone, 3β-hydroxy-5α-androstan-17-one, or 5α-androstan-3β-ol-17-one, is a steroid hormone with weak androgenic activity. It is a metabolite of testosterone and dihydrotestosterone (DHT). It was first isolated in 1931, by Adolf Friedrich Johann Butenandt and Kurt Tscherning. They distilled over 17,000 litres of male urine, from which they got 50 milligrams of crystalline androsterone, which was sufficient to find that the chemical formula was very similar to estrone.

<span class="mw-page-title-main">3β-Androstanediol</span> Chemical compound

3β-Androstanediol, also known as 5α-androstane-3β,17β-diol, and sometimes shortened in the literature to 3β-diol, is an endogenous steroid hormone and a metabolite of androgens like dehydroepiandrosterone (DHEA) and dihydrotestosterone (DHT).

<span class="mw-page-title-main">11α-Hydroxyprogesterone</span> Chemical compound

11α-Hydroxyprogesterone (11α-OHP), or 11α-hydroxypregn-4-ene-3,20-dione is an endogenous steroid and metabolite of progesterone. It is a weak antiandrogen, and is devoid of androgenic, estrogenic, and progestogenic activity.

<span class="mw-page-title-main">Steroidogenic enzyme</span>

Steroidogenic enzymes are enzymes that are involved in steroidogenesis and steroid biosynthesis. They are responsible for the biosynthesis of the steroid hormones, including sex steroids and corticosteroids, as well as neurosteroids, from cholesterol. Steroidogenic enzymes are most highly expressed in classical steroidogenic tissues, such as the testis, ovary, and adrenal cortex, but are also present in other tissues in the body.

The androgen backdoor pathway is a collective name for all metabolic pathways where clinically relevant androgens are synthesized from 21-carbon steroids (pregnanes) by their 5α-reduction, bypassing testosterone and/or androstenedione.

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.

[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.