Uniprot ID:P08235	Protein name: Mineralocorticoid receptor	Gene : NR3C2 MCR MLR
Protein Family:"Nuclear hormone receptor family, NR3 subfamily"	Squence Length : 984

Sequnce	>P08235 985 METKGYHSLPEGLDMERRWGQVSQAVERSSLGPTERTDENNYMEIVNVSCVSGAIPNNSTQGSSKEKQELLPCLQQDNNRPGILTSDIKTELESKELSATVAESMGLYMDSVRDADYSYEQQNQQGSMSPAKIYQNVEQLVKFYKGNGHRPSTLSCVNTPLRSFMSDSGSSVNGGVMRAIVKSPIMCHEKSPSVCSPLNMTSSVCSPAGINSVSSTTASFGSFPVHSPITQGTPLTCSPNAENRGSRSHSPAHASNVGSPLSSPLSSMKSSISSPPSHCSVKSPVSSPNNVTLRSSVSSPANINNSRCSVSSPSNTNNRSTLSSPAASTVGSICSPVNNAFSYTASGTSAGSSTLRDVVPSPDTQEKGAQEVPFPKTEEVESAISNGVTGQLNIVQYIKPEPDGAFSSSCLGGNSKINSDSSFSVPIKQESTKHSCSGTSFKGNPTVNPFPFMDGSYFSFMDDKDYYSLSGILGPPVPGFDGNCEGSGFPVGIKQEPDDGSYYPEASIPSSAIVGVNSGGQSFHYRIGAQGTISLSRSARDQSFQHLSSFPPVNTLVESWKSHGDLSSRRSDGYPVLEYIPENVSSSTLRSVSTGSSRPSKICLVCGDEASGCHYGVVTCGSCKVFFKRAVEGQHNYLCAGRNDCIIDKIRRKNCPACRLQKCLQAGMNLGARKSKKLGKLKGIHEEQPQQQQPPPPPPPPQSPEEGTTYIAPAKEPSVNTALVPQLSTISRALTPSPVMVLENIEPEIVYAGYDSSKPDTAENLLSTLNRLAGKQMIQVVKWAKVLPGFKNLPLEDQITLIQYSWMCLSSFALSWRSYKHTNSQFLYFAPDLVFNEEKMHQSAMYELCQGMHQISLQFVRLQLTFEEYTIMKVLLLLSTIPKDGLKSQAAFEEMRTNYIKELRKMVTKCPNNSGQSWQRFYQLTKLLDSMHDLVSDLLEFCFYTFRESHALKVEFPAMLVEIISDQLPKVESGNAKPLYFHRK
NR C4-type domains repeats	ZN_FING 603 623 NR C4-type ZN_FING 639 663 NR C4-type
Domin repeated regions	603 - 623 CLVCGDEASGCHYGVVTCGSC 639 - 663 CAGRNDCIIDKIRRKNCPACRLQKC
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
Binding Site	BINDING 770 770 Steroid. BINDING 776 776 Steroid. BINDING 817 817 Steroid. BINDING 945 945 Steroid
Mutation	"767 767 S->N: Loss of transcription transactivation 767 767 S->Q: Strong decrease of transcription transactivation 770 770 N->A,D,H,Q,S,T: Abolishes aldosterone binding and transcription transactivation 776 776 Q->A: Reduces aldosterone binding and transcription transactivation 782 782 K->E: Decreased coactivator binding 785 785 K->E: Loss of coactivator binding 796 796 E->R: Decreased coactivator binding 808 808 C->S: Increases aldosterone-binding 810 810 S->M: Alters receptor specificity 817 817 R->A: Reduces aldosterone binding and transcription transactivation 849 849 C->S: Strongly decreases affinity for aldosterone and transcription transactivation 942 942 C->S: Abolishes steroid binding and transcription transactivation 945 945 T->A: Decreases aldosterone-binding and cortisol-binding 952 952 L->A: Reduces transcription transactivation 953 953 K->A: Slightly reduces aldosterone binding and abolishes transcription transactivation 954 954 V->A: Reduces aldosterone binding and abolishes transcription transactivation 956 956 F->A: Abolishes aldosterone binding and transcription transactivation 957 957 P->A: Slightly reduces aldosterone binding and transcription transactivation"
Disease	"DISEASE: Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry"

P08235 of Proteins NR C4-type domain repeats