UniProt functional annotation for P00797



	UniProt functional annotation for P00797

UniProt code: P00797.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Renin 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.

Catalytic activity: Reaction=Cleavage of Leu-|-Xaa bond in angiotensinogen to generate angiotensin I.; EC=3.4.23.15;

Activity regulation: Interaction with ATP6AP2 results in a 5-fold increased efficiency in angiotensinogen processing.

Biophysicochemical properties: Kinetic parameters: KM=1 uM for angiotensinogen (in absence of ATP6AP2); KM=0.15 uM for angiotensinogen (in presence of membrane-bound ATP6AP2);

Subunit: Interacts with ATP6AP2. {ECO:0000269|PubMed:12045255, ECO:0000269|PubMed:20927107}.

Subcellular location: Secreted. Membrane. Note=Associated to membranes via binding to ATP6AP2.

Disease: Renal 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 variants affecting the gene represented in this entry.

Disease: Familial 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 variants affecting the gene represented in this entry.

Similarity: Belongs to the peptidase A1 family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Renin 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.


Catalytic activity:		Reaction=Cleavage of Leu-\|-Xaa bond in angiotensinogen to generate angiotensin I.; EC=3.4.23.15;
Activity regulation:		Interaction with ATP6AP2 results in a 5-fold increased efficiency in angiotensinogen processing.
Biophysicochemical properties:		Kinetic parameters: KM=1 uM for angiotensinogen (in absence of ATP6AP2); KM=0.15 uM for angiotensinogen (in presence of membrane-bound ATP6AP2);
Subunit:		Interacts with ATP6AP2. {ECO:0000269\|PubMed:12045255, ECO:0000269\|PubMed:20927107}.
Subcellular location:		Secreted. Membrane. Note=Associated to membranes via binding to ATP6AP2.
Disease:		Renal 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 variants affecting the gene represented in this entry.
Disease:		Familial 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 variants affecting the gene represented in this entry.
Similarity:		Belongs to the peptidase A1 family. {ECO:0000305}.