HSD11B1 Gene Summary [Human]
The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]
Details
| Type | Protein Coding |
| Official Symbol | HSD11B1 |
| Official Name | hydroxysteroid 11-beta dehydrogenase 1 [Source:HGNC Symbol;Acc:HGNC:5208] |
| Ensembl ID | ENSG00000117594 |
| Bio databases IDs | |
| Aliases | hydroxysteroid 11-beta dehydrogenase 1, short chain dehydrogenase/reductase family 26C, member 1 |
| Synonyms | 11 beta HSD, 11-beta-HSD1, 11-DH, 11 β HSD, 11-β HSD-1, CORTRD2, HDL, HSD11, HSD11B, HSD11L, Hsdrla, hydroxysteroid 11-beta dehydrogenase 1, hydroxysteroid 11-β dehydrogenase 1, LRRGT00065, SDR26C1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HSD11B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- sepiapterin reductase
- NADP binding
- 11beta-hydroxysteroid dehydrogenase
- KR domain
- protein homodimerization
- enzyme
- Enoyl-(Acyl carrier protein) reductase
- short chain dehydrogenase
- steroid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- Alzheimer disease
- epithelial cancer
- colorectal cancer
- T-cell non-Hodgkin lymphoma
- T-cell non-Hodgkin disease
- obesity
- early-onset preeclampsia
- esophageal adenocarcinoma
- gastric adenocarcinoma
regulated by
- dexamethasone
- insulin
- isoproterenol
- IL1
- glucose-6-phosphate
- beta-estradiol
- medroxyprogesterone acetate
- tetradecanoylphorbol acetate
- SB 220025
- rosiglitazone
role in cell
- expression in
- quantity
- activation in
- production in
- transactivation in
- differentiation
- degranulation
- proliferation
- abnormal morphology
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microsomal fraction
- apical compartment
- perinuclear region
- apical cytoplasm
- apical cell surfaces
- endoplasmic reticulum membrane
- microsome
- Golgi membrane
- nuclear envelope
- rough endoplasmatic reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HSD11B1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- steroid catabolic process
- lung development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- membrane
Molecular Function
What the gene product does at the molecular level
- 7-beta-hydroxysteroid dehydrogenase (NADP+) activity
- NADP binding
- protein homodimerization activity
- steroid binding
- 11-beta-hydroxysteroid dehydrogenase (NADP+) activity