Jueju.Wang
ナレッジベースホーム
Mineralocorticoid receptor structure
P08235
MCR_HUMAN
NR3C2

Mineralocorticoid receptor

Homo sapiensTaxon: 9606

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

984

アミノ酸

分子量

107.1 kDa

理論値

実験構造

29

PDB エントリー

関連疾患

2

記録済み

機能記述

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

局在と分布

組織特異性

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

関連疾患

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.

アミノ酸配列

METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST
QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE
QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAV
VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN

FASTA 形式 · 984 アミノ酸 · 分子量 107.1 kDa

実験構造

29 PDB エントリー
1Y9R1YA32A3I2AA22AA52AA62AA72AAX2AB22ABI2OAX3VHU3VHV3WFF3WFG4PF34TNT4UDA4UDB5HCV5L7E5L7G5L7H5MWP5MWY6GEV6GG86GGG6L88

翻訳後修飾

  • •Phosphorylated