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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HSD3B1
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
Chromosome 1 · 1p12
NCBI Gene: 3283Ensembl: ENSG00000203857.10HGNC: HGNC:5217UniProt: P14060
133PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumprotein bindingprogesterone biosynthetic processmitochondrial inner membraneneoplasmbreast cancerblood coagulation diseasebenign prostatic hyperplasia
✦AI Summary

HSD3B1 encodes 3β-hydroxysteroid dehydrogenase-1, a rate-limiting enzyme that catalyzes the conversion of adrenal precursor steroids, particularly dehydroepiandrosterone (DHEA), into potent androgens including dihydrotestosterone (DHT) 1. This enzyme is essential for androgen synthesis in peripheral tissues, including prostate cancer cells 2. A common genetic polymorphism (rs1047303, 1245 A→C) creates two functional variants: the adrenal-restrictive HSD3B1(1245A) allele that limits androgen synthesis, and the adrenal-permissive HSD3B1(1245C) allele that produces a more stable protein resistant to degradation, leading to increased androgen production 1. In prostate cancer, the adrenal-permissive variant confers worse outcomes and shorter survival after castration therapy, particularly in low-volume disease 2, but paradoxically shows better response to combination therapy with androgen deprivation therapy plus CYP17A1 inhibitors 3. The polymorphism also influences androgenic phenotypes in other conditions, as demonstrated by its association with female pattern hair loss in women with polycystic ovary syndrome 4. Importantly, HSD3B1 expression is minimal in adrenal cortex, distinguishing it from HSD3B2 which handles adrenocortical steroidogenesis 5.

Sources cited
1
HSD3B1 encodes enzyme that converts adrenal precursors to potent androgens and genetic variants create adrenal-restrictive vs adrenal-permissive phenotypes
PMID: 31271415
2
The adrenal-permissive variant confers worse outcomes after castration in prostate cancer
PMID: 32866512
3
Meta-analysis showing HSD3B1 variant effects on androgen deprivation therapy outcomes
PMID: 33141329
4
HSD3B1 polymorphism association with female pattern hair loss in PCOS
PMID: 31056381
5
HSD3B1 expression is minimal in adrenal cortex, distinguishing it from HSD3B2
PMID: 24951726
Disease Associationsⓘ20
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
blood coagulation diseaseOpen Targets
0.06Suggestive
benign prostatic hyperplasiaOpen Targets
0.06Suggestive
prostate cancerOpen Targets
0.05Suggestive
Crohn's diseaseOpen Targets
0.05Suggestive
secondary malignant neoplasmOpen Targets
0.05Suggestive
endocarditisOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.04Suggestive
pachyonychia congenitaOpen Targets
0.03Suggestive
congenital adrenal hyperplasiaOpen Targets
0.03Suggestive
psoriasisOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
endometrial cancerOpen Targets
0.03Suggestive
HirsutismOpen Targets
0.03Suggestive
primary aldosteronismOpen Targets
0.03Suggestive
polycystic ovary syndromeOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LSSProtein interaction100%SQLEProtein interaction100%FSHRProtein interaction100%NR5A1Protein interaction100%INSL3Protein interaction100%HSD17B7Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
89%
Ovary
11%
Lung
11%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HSD3B1LSSSQLEFSHRNR5A1INSL3HSD17B7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P14060
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.61LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.62–1.61]
RankingsWhere HSD3B1 stands among ~20K protein-coding genes
  • #3,484of 20,598
    Most Researched133 · top quartile
  • #15,694of 17,882
    Most Constrained (LOEUF)1.61
Genes detectedHSD3B1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hormonal Therapy for Prostate Cancer.
PMID: 33480983
Endocr Rev · 2021
1.00
2
Expression and gene variation studies deny association of human HSD3B1 gene with aldosterone production or blood pressure.
PMID: 24951726
Am J Hypertens · 2015
0.90
3
Spatial transcriptomics reveals altered lipid metabolism and inflammation-related gene expression of sebaceous glands in psoriasis and atopic dermatitis.
PMID: 38433843
Front Immunol · 2024
0.80
4
HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond.
PMID: 31271415
Endocrinology · 2019
0.70
5
HSD3B1 variant and androgen-deprivation therapy outcome in prostate cancer.
PMID: 33141329
Cancer Chemother Pharmacol · 2021
0.60