HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1)
2007-02-01 AffiliationIdentity
HGNC
LOCATION
1p12
LOCUSID
ALIAS
3BETAHSD,HSD3B,HSDB3,HSDB3A,SDR11E1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3283
MIM: 109715
HGNC: 5217
Ensembl: ENSG00000203857
Variants:
dbSNP: 3283
ClinVar: 3283
TCGA: ENSG00000203857
COSMIC: HSD3B1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000203857 | ENST00000369413 | P14060 |
| ENSG00000203857 | ENST00000528909 | P14060 |
| ENSG00000203857 | ENST00000531340 | E9PRN7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443450 | Asthma | Disease | ClinicalAnnotation | associated | PD | 31932420 | |
| PA452347 | glucocorticoids | Chemical | ClinicalAnnotation | associated | PD | 31932420 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38506808 | 2024 | Adrenal-Permissive Germline HSD3B1 Allele and Prostate Cancer Outcomes. | 0 |
| 38506812 | 2024 | Adrenal-Permissive HSD3B1 Genotype-An Invisible Stimulator of Prostate Cancer Mortality. | 0 |
| 38506808 | 2024 | Adrenal-Permissive Germline HSD3B1 Allele and Prostate Cancer Outcomes. | 0 |
| 38506812 | 2024 | Adrenal-Permissive HSD3B1 Genotype-An Invisible Stimulator of Prostate Cancer Mortality. | 0 |
| 37132223 | 2023 | HSD3B1 is an oxysterol 3β-hydroxysteroid dehydrogenase in human placenta. | 1 |
| 37274334 | 2023 | High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. | 1 |
| 37966114 | 2023 | Intratumoral androgen biosynthesis associated with 3β-hydroxysteroid dehydrogenase 1 promotes resistance to radiotherapy in prostate cancer. | 1 |
| 37132223 | 2023 | HSD3B1 is an oxysterol 3β-hydroxysteroid dehydrogenase in human placenta. | 1 |
| 37274334 | 2023 | High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. | 1 |
| 37966114 | 2023 | Intratumoral androgen biosynthesis associated with 3β-hydroxysteroid dehydrogenase 1 promotes resistance to radiotherapy in prostate cancer. | 1 |
| 34747051 | 2022 | Clinical impact of HSD3B1 polymorphism by metastatic volume and somatic HSD3B1 alterations in advanced prostate cancer. | 1 |
| 35521709 | 2022 | Inheritance of a common androgen synthesis variant allele is associated with female COVID susceptibility in UK Biobank. | 1 |
| 35776258 | 2022 | Association of HSD3B1 Genotype and Clinical Outcomes in Postmenopausal Estrogen-Receptor-Positive Breast Cancer. | 6 |
| 35795973 | 2022 | Role of single nucleotide polymorphisms of the HSD3B1 gene (rs6203 and rs33937873) in the prediction of prostate cancer risk. | 0 |
| 35947687 | 2022 | Association Between Adrenal-Restrictive HSD3B1 Inheritance and Hormone-Independent Subtypes of Endometrial and Breast Cancer. | 1 |
Citation
Dessen P
HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43937/hsd3b1
