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MGP002607

UniProt Annotations

Entry Information
Gene Namerenin
Protein EntryRENI_HUMAN
UniProt IDP00797
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P00797-1; Sequence=Displayed; Name=2; IsoId=P00797-2; Sequence=VSP_012899;
Biophysicochemical PropertiesKinetic parameters: KM=1 uM for angiotensinogen (in absence of ATP6AP2); KM=0.15 uM for angiotensinogen (in presence of membrane-bound ATP6AP2);
Catalytic ActivityCleavage of Leu-|-Xaa bond in angiotensinogen to generate angiotensin I.
DiseaseFamilial juvenile hyperuricemic nephropathy 2 (HNFJ2) [MIM:613092]: A renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia. {ECO:0000269|PubMed:19664745}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseRenal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). {ECO:0000269|PubMed:16116425}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationInteraction with ATP6AP2 results in a 5-fold increased efficiency in angiotensinogen processing.
FunctionRenin is a highly specific endopeptidase, whose only known function is to generate angiotensin I from angiotensinogen in the plasma, initiating a cascade of reactions that produce an elevation of blood pressure and increased sodium retention by the kidney.
SimilarityBelongs to the peptidase A1 family. {ECO:0000305}.
Subcellular LocationSecreted. Membrane. Note=Associated to membranes via binding to ATP6AP2.
SubunitInteracts with ATP6AP2. {ECO:0000269|PubMed:12045255, ECO:0000269|PubMed:20927107}.
Web ResourceName=Wikipedia; Note=Renin entry; URL="http://en.wikipedia.org/wiki/Renin";
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