Mineralocorticoid receptor

Homo sapiensTaxon: 9606

3D-structureAlternative splicingCytoplasmDisease variantDNA-bindingEndoplasmic reticulumLipid-bindingMembraneMetal-bindingNucleusPhosphoproteinProteomics identification+7

Sequence Length

984

amino acids

Molecular Weight

107.1 kDa

theoretical

Experimental Structures

PDB entries

Related Diseases

recorded

Function

Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels

Localization & Distribution

Tissue Specificity

Ubiquitous. Highly expressed in distal tubules, convoluted tubules and cortical collecting duct in kidney, and in sweat glands. Detected at lower levels in cardiomyocytes, in epidermis and in colon enterocytes

Related Diseases

Pseudohypoaldosteronism 1, autosomal dominant

A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment.

Early-onset hypertension with severe exacerbation in pregnancy

Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion.

Amino Acid Sequence

METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST
QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE
QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAV
VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN

FASTA format · 984 amino acids · mass 107.1 kDa

Experimental Structures

29 PDB entries

1Y9R1YA32A3I2AA22AA52AA62AA72AAX2AB22ABI2OAX3VHU3VHV3WFF3WFG4PF34TNT4UDA4UDB5HCV5L7E5L7G5L7H5MWP5MWY6GEV6GG86GGG6L88

Post-Translational Modifications

•Phosphorylated