Mineralocorticoid receptor

Homo sapiensTaxon: 9606

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

Longueur de Séquence

984

acides aminés

Poids Moléculaire

107.1 kDa

théorique

Structures Expérimentales

entrées PDB

Maladies Associées

enregistrées

Fonction

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

Localisation & Distribution

Spécificité Tissulaire

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

Maladies Associées

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.

Séquence d'Acides Aminés

METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST
QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE
QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAV
VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN

Format FASTA · 984 acides aminés · masse 107.1 kDa

Structures Expérimentales

29 entrées PDB

1Y9R1YA32A3I2AA22AA52AA62AA72AAX2AB22ABI2OAX3VHU3VHV3WFF3WFG4PF34TNT4UDA4UDB5HCV5L7E5L7G5L7H5MWP5MWY6GEV6GG86GGG6L88

Modifications Post-Traductionnelles

•Phosphorylated