HSD11B1L: 11-beta-hydroxysteroid dehydrogenase 1 like
Gene encoding a hydroxysteroid dehydrogenase with potential roles in steroid metabolism
Gene Information Card
| Symbol | HSD11B1L |
|---|---|
| Full Name | 11-beta-hydroxysteroid dehydrogenase 1 like |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 374875 ncbi.nlm.nih.gov/gene/374875 |
| Ensembl ID | ENSG00000167772 |
| UniProt ID | Q7Z5P4 |
| OMIM ID | 614662 |
| HGNC ID | 26623 |
| Aliases | SDR26C1, 11-beta-HSD1L, HSD11B1L1 |
Description
HSD11B1L encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The protein is similar to 11-beta-hydroxysteroid dehydrogenase 1 (HSD11B1) and may catalyze the interconversion of active and inactive glucocorticoids. It is expressed in various tissues and may play a role in steroid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Potential role in glucocorticoid metabolism affecting adipocyte differentiation | Limited evidence from expression studies |
| Metabolic syndrome | Altered cortisol metabolism may contribute to insulin resistance | Inferred from HSD11B1 function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 2.3 | Low |
| Kidney | 1.8 | Low |
| Adipose tissue | 1.5 | Low |
| Brain | 1.2 | Low |
| Testis | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 1.1 | Low expression |
| HEK293 | 0.8 | Low expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • 11-beta-hydroxysteroid dehydrogenase activity (GO:0003854) | • glucocorticoid biosynthetic process (GO:0006704) |
| • oxidoreductase activity (GO:0016491) | • oxidation-reduction process (GO:0055114) |
Pathways
• Glucocorticoid metabolism (Reactome: R-HSA-196071)
• Metabolism of steroids (Reactome: R-HSA-8957322)
Protein Summary
HSD11B1L is a 292-amino acid protein belonging to the short-chain dehydrogenase/reductase family. It shares sequence similarity with HSD11B1 and is predicted to localize to the endoplasmic reticulum. The protein may catalyze the conversion of cortisone to cortisol, influencing local glucocorticoid levels. Its physiological role remains incompletely characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
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