REN
entrez
5972
canonical
uniprot
P00797
canonical
ensembl
ENSG00000143839
resolver
ensp
ENSP00000272190
resolver
genesymbol
REN
resolver
hgnc
HGNC:9958
resolver
uniprot
Q6FI38
resolver
uniprot
Q6T5C2
resolver
uniprot_entry
RENI_HUMAN
resolver
uniprot_sec
Q6FI38
resolver
uniprot_sec
Q6T5C2
resolver
activity_regulation
ACTIVITY REGULATION: Interaction with ATP6AP2 results in a 5-fold increased efficiency in angiotensinogen processing. {ECO:0000269|PubMed:12045255}.
uniprot
proteins
amino_acid_sequence
MDGWRRMPRWGLLLLLWGSCTFGLPTDTTTFKRIFLKRMPSIRESLKERGVDMARLGPEWSQPMKRLTLGNTTSSVILTNYMDTQYYGEIGIGTPPQTFKVVFDTGSSNVWVPSSKCSRLYTACVYHKLFDASDSSSYKHNGTELTLRYSTGTVSGFLSQDIITVGGITVTQMFGEVTEMPALPFMLAEFDGVVGMGFIEQAIGRVTPIFDNIISQGVLKEDVFSFYYNRDSENSQSLGGQIVLGGSDPQHYEGNFHYINLIKTGVWQIQMKGVSVGSSTLLCEDGCLALVDTGASYISGSTSSIEKLMEALGAKKRLFDYVVKCNEGPTLPDISFHLGGKEYTLTSADYVFQESYSSKKLCTLAIHAMDIPPPTGPTWALGATFIRKFYTEFDRRNNRIGFALAR
uniprot
proteins
disease_involvement
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: Tubulointerstitial kidney disease, autosomal dominant 4 (ADTKD4) [MIM:613092]: A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance. {ECO:0000269|PubMed:19664745}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.23.15
uniprot
proteins
function
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. {ECO:0000269|PubMed:12045255, ECO:0000269|PubMed:20927107}.
uniprot
proteins
mass_dalton
45057
uniprot
proteins
protein_family
Peptidase A1 family
uniprot
proteins
pubmed
12045255
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1608447
uniprot
proteins
pubmed
16116425
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19664745
uniprot
proteins
pubmed
2016271
uniprot
proteins
pubmed
20927107
uniprot
proteins
pubmed
2493678
uniprot
proteins
pubmed
2540188
uniprot
proteins
pubmed
3032746
uniprot
proteins
pubmed
3516796
uniprot
proteins
pubmed
3530608
uniprot
proteins
pubmed
6138751
uniprot
proteins
pubmed
6324167
uniprot
proteins
pubmed
6391881
uniprot
proteins
sequence_length
406
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12045255}. Membrane {ECO:0000269|PubMed:12045255}. Note=Associated to membranes via binding to ATP6AP2. {ECO:0000269|PubMed:12045255}.
uniprot
proteins