Jueju.Wang
지식 베이스 홈
Mineralocorticoid receptor structure
P08235
MCR_HUMAN
NR3C2

Mineralocorticoid receptor

Homo sapiensTaxon: 9606

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

984

아미노산

분자량

107.1 kDa

이론값

실험 구조

29

PDB 항목

관련 질환

2

기록됨

기능 설명

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

국재 및 분포

조직 특이성

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

관련 질환

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.

아미노산 서열

METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNST
QGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYE
QQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAV
VKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPN

FASTA 형식 · 984 아미노산 · 분자량 107.1 kDa

실험 구조

29 PDB 항목
1Y9R1YA32A3I2AA22AA52AA62AA72AAX2AB22ABI2OAX3VHU3VHV3WFF3WFG4PF34TNT4UDA4UDB5HCV5L7E5L7G5L7H5MWP5MWY6GEV6GG86GGG6L88

번역 후 수식

  • •Phosphorylated