HSD17B1 Gene: Hydroxysteroid 17-Beta Dehydrogenase 1
Key enzyme in estrogen biosynthesis and hormone-dependent cancers
Gene Information Card
| Symbol | HSD17B1 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 3292 ncbi.nlm.nih.gov/gene/3292 |
| Ensembl ID | ENSG00000108796 |
| UniProt ID | P14061 |
| OMIM ID | 109684 |
| HGNC ID | 5210 |
| Aliases | 17β-HSD1, EDH17B2, E17HSD1, HSD17, SDR28C1 |
Description
HSD17B1 encodes 17β-hydroxysteroid dehydrogenase 1, a cytosolic enzyme that catalyzes the reduction of estrone (E1) to the potent estrogen estradiol (E2) using NADPH as a cofactor. This enzyme plays a critical role in estrogen biosynthesis in ovarian granulosa cells, placenta, and peripheral tissues. Overexpression is linked to hormone-dependent cancers, particularly breast and endometrial cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Increased local estradiol production via HSD17B1 overexpression promotes estrogen receptor signaling and tumor growth. | NCBI Gene, OMIM |
| Endometriosis | Elevated HSD17B1 activity in endometriotic lesions enhances local estradiol levels, contributing to lesion proliferation. | NCBI Gene, OMIM |
| Endometrial Cancer | Similar mechanism as breast cancer; high HSD17B1 expression correlates with poor prognosis. | NCBI Gene, OMIM |
| Polycystic Ovary Syndrome (PCOS) | Altered HSD17B1 expression may contribute to hyperandrogenism and anovulation. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 125.4 | High |
| Ovary | 42.1 | Medium |
| Breast | 8.3 | Low |
| Endometrium | 6.7 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF-7 (breast cancer) | 15.2 | Estrogen-responsive cell line |
| JEG-3 (placental choriocarcinoma) | 98.7 | High expression |
| KGN (ovarian granulosa) | 34.5 | Steroidogenic cell line |
| HepG2 (liver) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325G>A (p.Gly109Ser) | Missense | <0.01% | Reduced catalytic activity in vitro |
| c.937G>A (p.Ala313Thr) | Missense | <0.01% | Unknown functional effect |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Gly109Ser) show reduced enzymatic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in HSD17B1.
Dominant Negative (DN)
Not described for HSD17B1.
View complete mutation data：
Gene Ontology (GO)
| • estradiol 17-beta-dehydrogenase activity (GO:0004303) | • NAD binding (GO:0051287) |
| • estrogen biosynthetic process (GO:0006703) | • cytoplasm (GO:0005737) |
| • nucleoplasm (GO:0005654) |
Pathways
• Estrogen biosynthesis (Reactome: R-HSA-193144)
• Steroid hormone biosynthesis (KEGG: hsa00140)
• Metabolism of steroids (Reactome: R-HSA-8957322)
Protein Summary
The HSD17B1 protein (17β-HSD1) is a 327-amino acid short-chain dehydrogenase/reductase (SDR) that functions as a homodimer. It preferentially uses NADPH to reduce estrone to estradiol. The enzyme is membrane-associated in the endoplasmic reticulum and is highly expressed in placental syncytiotrophoblasts and ovarian granulosa cells. Its crystal structure reveals a Rossmann fold cofactor-binding domain and a catalytic triad (Ser142, Tyr155, Lys159).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B1 Knockout HEK293 Cell Line | EDJ-KQ4942 | Human | 3292 | Details Get a Quote |
| HSD17B12 Knockout HEK293 Cell Line | EDJ-KQ10944 | Human | 51144 | Details Get a Quote |
| HSD17B11 Knockout HEK293 Cell Line | EDJ-KQ10960 | Human | 51170 | Details Get a Quote |
| HSD17B14 Knockout HEK293 Cell Line | EDJ-KQ10961 | Human | 51171 | Details Get a Quote |
| HSD17B13 Knockout HEK293 Cell Line | EDJ-KQ17880 | Human | 345275 | Details Get a Quote |
| HSD17B1 Knockout A-549 Cell Line | EDJ-KQ27795 | Human | 3292 | Details Get a Quote |
| HSD17B1 Knockout HCT 116 Cell Line | EDJ-KQ27796 | Human | 3292 | Details Get a Quote |
| HSD17B1 Knockout HeLa Cell Line | EDJ-KQ27797 | Human | 3292 | Details Get a Quote |
| HSD17B11 Knockout HeLa Cell Line | EDJ-KQ37466 | Human | 51170 | Details Get a Quote |
| HSD17B12 Knockout A-549 Cell Line | EDJ-KQ38739 | Human | 51144 | Details Get a Quote |
| HSD17B12 Knockout HCT 116 Cell Line | EDJ-KQ38740 | Human | 51144 | Details Get a Quote |
| HSD17B12 Knockout HeLa Cell Line | EDJ-KQ38741 | Human | 51144 | Details Get a Quote |
| HSD17B11 Knockout A-549 Cell Line | EDJ-KQ38766 | Human | 51170 | Details Get a Quote |
| HSD17B11 Knockout HCT 116 Cell Line | EDJ-KQ38767 | Human | 51170 | Details Get a Quote |
| HSD17B14 Knockout A-549 Cell Line | EDJ-KQ38769 | Human | 51171 | Details Get a Quote |
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