HSD17B11: Hydroxysteroid 17-Beta Dehydrogenase 11
A member of the short-chain dehydrogenase/reductase (SDR) family involved in steroid metabolism and lipid biosynthesis.
Gene Information Card
| Symbol | HSD17B11 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q22.1 |
| NCBI Gene ID | 51170 ncbi.nlm.nih.gov/gene/51170 |
| Ensembl ID | ENSG00000138669 |
| UniProt ID | Q8NBQ5 |
| OMIM ID | 612830 |
| HGNC ID | 29957 |
| Aliases | 17beta-HSD11, 17betaHSD11, DHRS8, SDR16C2, UNQ309/PRO352 |
Description
HSD17B11 encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The enzyme catalyzes the oxidation of 17β-hydroxysteroids, including estradiol and testosterone, and also functions as a retinol dehydrogenase. It is involved in steroid hormone metabolism and lipid biosynthesis. The gene is located on chromosome 4q22.1 and is expressed in multiple tissues, with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered steroid metabolism may influence androgen levels; HSD17B11 expression changes observed in tumor tissues. | PMID: 19088126 |
| Endometrial cancer | Dysregulation of estrogen metabolism via 17β-HSD activity. | PMID: 21804529 |
| Retinol metabolism disorders | Deficiency in retinol dehydrogenase activity may contribute to vitamin A-related pathologies. | UniProt annotation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 18.5 | High |
| Kidney | 12.3 | Medium |
| Adrenal gland | 9.8 | Medium |
| Prostate | 6.2 | Medium |
| Small intestine | 5.1 | Low |
| Testis | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Liver cancer cell line |
| HEK 293 | 8.9 | Embryonic kidney cells |
| LNCaP | 7.4 | Prostate cancer cells |
| MCF-7 | 5.6 | Breast cancer cells |
| A549 | 3.1 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown significance; rare population variant |
| c.689G>A (p.Arg230His) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in literature.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854) | • retinol dehydrogenase activity (GO:0004745) |
| • oxidoreductase activity (GO:0016491) | • steroid biosynthetic process (GO:0006694) |
| • steroid metabolic process (GO:0008202) | • retinoid metabolic process (GO:0001523) |
| • cytoplasm (GO:0005737) | • endoplasmic reticulum (GO:0005783) |
Pathways
• Steroid hormone biosynthesis (KEGG: hsa00140)
• Retinol metabolism (KEGG: hsa00830)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
HSD17B11 is a 318-amino acid protein (UniProt Q8NBQ5) belonging to the short-chain dehydrogenase/reductase (SDR) family. It localizes to the cytoplasm and endoplasmic reticulum. The enzyme catalyzes the NADP+-dependent oxidation of 17β-hydroxysteroids (e.g., estradiol to estrone, testosterone to androstenedione) and also acts as a retinol dehydrogenase, converting all-trans-retinol to all-trans-retinal. It plays a role in steroid hormone inactivation and retinoid signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B11 Knockout HEK293 Cell Line | EDJ-KQ10960 | Human | 51170 | Details Get a Quote |
| HSD17B11 Knockout HeLa Cell Line | EDJ-KQ37466 | Human | 51170 | 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 |
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