HSD11B1 Gene: 11-beta-hydroxysteroid dehydrogenase type 1
Key regulator of glucocorticoid metabolism and metabolic syndrome
Gene Information Card
| Symbol | HSD11B1 |
|---|---|
| Full Name | hydroxysteroid 11-beta dehydrogenase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.2 |
| NCBI Gene ID | 3290 ncbi.nlm.nih.gov/gene/3290 |
| Ensembl ID | ENSG00000116194 |
| UniProt ID | P28845 |
| OMIM ID | 600713 |
| HGNC ID | 5208 |
| Aliases | HSD11, HSD11L, 11-beta-HSD1, SDR26C1 |
Description
HSD11B1 encodes the enzyme 11-beta-hydroxysteroid dehydrogenase type 1, which catalyzes the conversion of inactive cortisone to active cortisol in the liver, adipose tissue, and other tissues. This enzyme plays a central role in glucocorticoid metabolism, influencing glucose homeostasis, insulin sensitivity, and inflammation. Dysregulation of HSD11B1 is implicated in metabolic syndrome, obesity, type 2 diabetes, and Cushing's syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | Increased local cortisol production in adipose tissue promotes insulin resistance and central obesity | OMIM #600713; multiple association studies |
| Type 2 diabetes | Enhanced hepatic cortisol regeneration exacerbates hyperglycemia and insulin resistance | ClinVar; PMID: 15668382 |
| Obesity | Adipose-specific overexpression of HSD11B1 correlates with visceral fat accumulation | NCBI Gene; PMID: 11549699 |
| Cushing's syndrome | Aberrant HSD11B1 activity contributes to glucocorticoid excess phenotype | OMIM; PMID: 10810058 |
| Polycystic ovary syndrome | Altered cortisol metabolism may influence androgen excess | ClinVar; PMID: 16968795 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | High |
| Adipose tissue | 8.7 | Medium |
| Lung | 5.1 | Medium |
| Kidney | 2.4 | Low |
| Brain | 1.8 | Low |
| Heart | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocyte cell line |
| 3T3-L1 (adipocyte) | 10.5 | Differentiated adipocytes |
| A549 | 6.3 | Lung epithelial cells |
| HEK293 | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83G>A (p.Gly28Asp) | Missense | <0.01% | Reduced enzyme activity; associated with cortisone reductase deficiency |
| c.437C>T (p.Ala146Val) | Missense | <0.01% | Loss of function; linked to metabolic syndrome |
| c.544G>A (p.Glu182Lys) | Missense | <0.01% | Decreased catalytic efficiency |
| c.726_727insA | Frameshift | <0.01% | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Gly28Asp and p.Ala146Val reduce or abolish enzyme activity, leading to cortisone reductase deficiency and altered glucocorticoid metabolism.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in HSD11B1.
Dominant Negative (DN)
No dominant-negative mutations described for HSD11B1.
View complete mutation data：
Gene Ontology (GO)
| • 11-beta-hydroxysteroid dehydrogenase activity | • oxidoreductase activity |
| • cortisol metabolic process | • glucocorticoid metabolic process |
| • response to glucocorticoid | • lipid metabolism |
Pathways
• Cortisol synthesis and secretion
• Glucocorticoid metabolism
• Metabolic syndrome pathway
• Steroid hormone biosynthesis
Protein Summary
The HSD11B1 protein is a 292-amino acid microsomal enzyme with a molecular weight of approximately 32 kDa. It functions as a homodimer and requires NADPH as a cofactor. The enzyme is primarily expressed in the liver and adipose tissue, where it converts cortisone to cortisol, thereby amplifying local glucocorticoid action. Its activity is regulated by transcription factors such as C/EBP and PPARγ, and it is a therapeutic target for metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD11B1 Knockout HEK293 Cell Line | EDJ-KQ2543 | Human | 3290 | Details Get a Quote |
| HSD11B1L Knockout HEK293 Cell Line | EDJ-KQ13782 | Human | 374875 | Details Get a Quote |
| HSD11B1L Knockout A-549 Cell Line | EDJ-KQ43570 | Human | 374875 | Details Get a Quote |
| HSD11B1L Knockout HCT 116 Cell Line | EDJ-KQ43571 | Human | 374875 | Details Get a Quote |
| HSD11B1L Knockout HeLa Cell Line | EDJ-KQ43572 | Human | 374875 | Details Get a Quote |
| HSD11B1 Knockout HeLa Cell Line | EDJ-KQ53576 | Human | 3290 | Details Get a Quote |
| HSD11B1 Knockout A-549 Cell Line | EDJ-KQ62042 | Human | 3290 | Details Get a Quote |
| HSD11B1 Knockout HCT 116 Cell Line | EDJ-KQ70524 | Human | 3290 | Details Get a Quote |
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