Mineralocorticoid Receptor
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Contents |
Function
- receptor for both mineralocorticoids & glucocorticoids
- binds to mineralocorticoid response elements ( MRE) & transactivates target genes
- effect is to increase ion & water transport & thus raise extracellular fluid volume & blood pressure & lower K+ levels
- cytoplasmic anchoring &/or assembly;
- may interact with HSD11B2 in the absence of ligand.
- binds the coactivators NCOA1, NCOA2, TIF1 & NRIP1
- phosphorylated
Structure
- composed of three domains:
- modulating N-terminal domain
- DNA-binding domain
- C-terminal steroid-binding domain
- belongs to the nuclear hormone receptor family, NR3 subfamily
- contains 1 nuclear receptor DNA-binding domain
Compartment
- cytoplasm, nucleus, endoplasmic reticulum membrane
- cytoplasmic & nuclear in the absence of ligand
- nuclear after ligand-binding
- when bound to HSD11B2, it is found associated with the endoplasmic reticulum membrane
Alternative-splicing
- named isoforms=4
- Additional isoforms seem to exist
Expression
- ubiquitous
- highly expressed in distal tubules, convoluted tubules & cortical collecting duct in kidney, & in sweat glands
- detected at lower levels in cardiomyocytes, in epidermis & in colon enterocytes
Pathology
- defects in NR3C2 are a cause of
- autosomal dominant pseudohypoaldosteronism type 1
- early onset hypertension with severe exacerbation in pregnancy
Comparative-biology
- type I corticosteroid receptor ( rat).
More General Terms
Additional Terms
Internet Database
Kegg: [1]
OMIM: 177735
OMIM: 600983
OMIM: 605115
Prosite: [2]
Prosite: [3]
UniProt: [4]
References
- Alberts et al Molecular Biology of the Cell, 2nd ed. 1989, pg 704
- Journal Watch 20(16):130, 2000 Geller DS et al Science 289:119, 2000
- GeneReviews [5]
- Wikipedia; Note: mineralocorticoid receptor entry [6]
- UniProt [7]
