Human Gene REN (ENST00000272190.9_8) from GENCODE V47lift37
  Description: renin (from RefSeq NM_000537.4)
Gencode Transcript: ENST00000272190.9_8
Gencode Gene: ENSG00000143839.15_10
Transcript (Including UTRs)
   Position: hg19 chr1:204,123,947-204,135,465 Size: 11,519 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr1:204,124,144-204,135,421 Size: 11,278 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:204,123,947-204,135,465)mRNA (may differ from genome)Protein (406 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RENI_HUMAN
DESCRIPTION: RecName: Full=Renin; EC=3.4.23.15; AltName: Full=Angiotensinogenase; Flags: Precursor;
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: Cleavage of Leu-|-Xaa bond in angiotensinogen to generate angiotensin I.
ENZYME 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.
SUBCELLULAR LOCATION: Secreted. Membrane. Note=Associated to membranes via binding to ATP6AP2.
DISEASE: Defects in REN are a cause of renal tubular dysgenesis (RTD) [MIM:267430]. RTD is an 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).
DISEASE: Defects in REN are the cause of familial juvenile hyperuricemic nephropathy type 2 (HNFJ2) [MIM:613092]. It is a renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia.
SIMILARITY: Belongs to the peptidase A1 family.
WEB RESOURCE: Name=Wikipedia; Note=Renin entry; URL="http://en.wikipedia.org/wiki/Renin";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: REN
Diseases sorted by gene-association score: hyperuricemic nephropathy, familial juvenile 2* (1650), renal tubular dysgenesis* (923), renal dysplasia* (407), autosomal dominant tubulointerstitial kidney disease, ren-related* (400), ren-related kidney disease* (400), renal tubular dysgenesis, ren-related* (100), renovascular hypertension (39), malignant hypertension (33), conn's syndrome (28), hyporeninemic hypoaldosteronism (28), hypokalemia (26), bartter disease (24), renal artery disease (24), oligohydramnios (23), hepatorenal syndrome (21), hypoaldosteronism (20), renal hypertension (20), hyperaldosteronism (19), congestive heart failure (18), chronic intestinal failure (17), anuria (17), benign essential hypertension (17), perinephritis (16), renal artery obstruction (16), malignant renovascular hypertension (15), aldosteronism, glucocorticoid-remediable (15), kidney hemangiopericytoma (14), apparent mineralocorticoid excess (14), liddle syndrome (14), endocrine organ benign neoplasm (13), chronic kidney failure (13), liver cirrhosis (13), multicystic dysplastic kidney (13), congenital chloride diarrhea (13), gitelman syndrome (13), pure autonomic failure (12), ovarian hyperstimulation syndrome (12), hyperuricemia (12), twin-to-twin transfusion syndrome (11), malignant secondary hypertension (11), organ system benign neoplasm (11), adrenal cortex disease (11), adrenal gland disease (11), kidney disease (11), congenital hepatic fibrosis (10), pericardial effusion (10), chronic angina (10), retinal microaneurysm (10), autosomal dominant polycystic kidney disease (10), atrial septal defect 4 (9), interstitial nephritis (9), renal fibrosis (9), adrenal adenoma (9), acute adrenal insufficiency (9), horseshoe kidney (9), bartter syndrome, type 3 (9), kidney papillary necrosis (9), pulmonary edema (8), congenital adrenal hyperplasia (8), bartter syndrome, type 2 (8), renal tubular acidosis (8), hypertension, diastolic (8), addison's disease (8), diabetes insipidus (8), aortic disease (8), sleep apnea (8), glomangiosarcoma (8), aldosterone-producing adenoma (8), urinary system disease (7), ureteral disease (7), obstructive sleep apnea (7), renal tuberculosis (7), antenatal bartter syndrome (7), postural hypotension (7), retroperitoneal leiomyosarcoma (7), acute kidney failure (7), adrenal carcinoma (7), arthrogryposis, distal, type 3 (7), cardiac tamponade (7), familial glucocorticoid deficiency (7), iga glomerulonephritis (7), hypertension, essential (7), mineral metabolism disease (6), premenstrual tension (6), hypertensive retinopathy (6), pseudohyperkalemia, familial, 2, due to red cell leak (6), rheumatoid vasculitis (6), inappropriate adh syndrome (6), orthostatic proteinuria (6), arrhythmogenic right ventricular dysplasia 4 (6), heart disease (6), cerebrovascular disease (6), pseudohypoaldosteronism type i, autosomal dominant (6), obstructive jaundice (6), renal tubular transport disease (6), malignant essential hypertension (6), arteriolosclerosis (6), pyelitis (6), intestinal impaction (5), chondrocalcinosis (5), chronic pyelonephritis (5), acquired metabolic disease (5), suprasellar meningioma (5), ovarian disease (5), hepatic vascular disease (5), steroid inherited metabolic disorder (5), glucose metabolism disease (5), adrenal cortical hypofunction (5), urinary tract obstruction (5), space motion sickness (4), pseudohypoaldosteronism, type i (4), aortic valve disease 1 (4), fibromuscular dysplasia (4), idiopathic hypercalciuria (4), cell type benign neoplasm (4), artery disease (4), myocardial infarction (3), pre-eclampsia (3), diabetes mellitus, insulin-dependent (3), pulmonary hypertension (3), vascular disease (2), tetralogy of fallot (2), stroke, ischemic (1), dilated cardiomyopathy (1), wilms tumor susceptibility-5 (1), aortic valve disease 2 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.74 RPKM in Kidney - Cortex
Total median expression: 48.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -15.3044-0.348 Picture PostScript Text
3' UTR -61.90197-0.314 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001461 - Peptidase_A1
IPR021109 - Peptidase_aspartic
IPR001969 - Peptidase_aspartic_AS
IPR009007 - Peptidase_aspartic_catalytic
IPR012848 - Propep_A1

Pfam Domains:
PF00026 - Eukaryotic aspartyl protease
PF07966 - A1 Propeptide
PF14543 - Xylanase inhibitor N-terminal

SCOP Domains:
50630 - Acid proteases
56281 - Metallo-hydrolase/oxidoreductase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BBS - X-ray MuPIT 1BIL - X-ray MuPIT 1BIM - X-ray MuPIT 1HRN - X-ray MuPIT 1RNE - X-ray MuPIT 2BKS - X-ray MuPIT 2BKT - X-ray MuPIT 2FS4 - X-ray MuPIT 2G1N - X-ray MuPIT 2G1O - X-ray MuPIT 2G1R - X-ray MuPIT 2G1S - X-ray MuPIT 2G1Y - X-ray MuPIT 2G20 - X-ray MuPIT 2G21 - X-ray MuPIT 2G22 - X-ray MuPIT 2G24 - X-ray MuPIT 2G26 - X-ray MuPIT 2G27 - X-ray MuPIT 2I4Q - X-ray MuPIT 2IKO - X-ray MuPIT 2IKU - X-ray MuPIT 2IL2 - X-ray MuPIT 2REN - X-ray MuPIT 2V0Z - X-ray MuPIT 2V10 - X-ray MuPIT 2V11 - X-ray MuPIT 2V12 - X-ray MuPIT 2V13 - X-ray MuPIT 2V16 - X-ray MuPIT 2X0B - X-ray MuPIT 3D91 - X-ray MuPIT 3G6Z - X-ray MuPIT 3G70 - X-ray MuPIT 3G72 - X-ray MuPIT 3GW5 - X-ray MuPIT 3K1W - X-ray MuPIT 3KM4 - X-ray MuPIT 3O9L - X-ray MuPIT 3OAD - X-ray MuPIT 3OAG - X-ray MuPIT 3OOT - X-ray MuPIT 3OQF - X-ray MuPIT 3OQK - X-ray MuPIT 3OWN - X-ray 3Q3T - X-ray MuPIT 3Q4B - X-ray MuPIT 3Q5H - X-ray MuPIT 3SFC - X-ray MuPIT 3VCM - X-ray MuPIT 3VSW - X-ray MuPIT 3VSX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P00797
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
GO:0004190 aspartic-type endopeptidase activity
GO:0005102 receptor binding
GO:0005159 insulin-like growth factor receptor binding
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0001822 kidney development
GO:0001823 mesonephros development
GO:0002003 angiotensin maturation
GO:0002016 regulation of blood volume by renin-angiotensin
GO:0002018 renin-angiotensin regulation of aldosterone production
GO:0006508 proteolysis
GO:0008217 regulation of blood pressure
GO:0008584 male gonad development
GO:0009755 hormone-mediated signaling pathway
GO:0010033 response to organic substance
GO:0032496 response to lipopolysaccharide
GO:0035690 cellular response to drug
GO:0035902 response to immobilization stress
GO:0042493 response to drug
GO:0042756 drinking behavior
GO:0043408 regulation of MAPK cascade
GO:0048469 cell maturation
GO:0050435 beta-amyloid metabolic process
GO:0051591 response to cAMP
GO:0070305 response to cGMP
GO:0030163 protein catabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0045177 apical part of cell


-  Descriptions from all associated GenBank mRNAs
  BC033474 - Homo sapiens renin, mRNA (cDNA clone MGC:34221 IMAGE:5188566), complete cds.
BC047752 - Homo sapiens renin, mRNA (cDNA clone MGC:54147 IMAGE:5590211), complete cds.
E00286 - DNA coding human renin.
E09002 - Human cDNA encoding renin.
X00063 - Human kidney mRNA fragment for renin (aa 105-401).
JD400320 - Sequence 381344 from Patent EP1572962.
JD168702 - Sequence 149726 from Patent EP1572962.
CR536498 - Homo sapiens full open reading frame cDNA clone RZPDo834A0620D for gene REN, renin; complete cds, incl. stopcodon.
HQ448652 - Synthetic construct Homo sapiens clone IMAGE:100072091; CCSB011549_01 renin (REN) gene, encodes complete protein.
KJ891995 - Synthetic construct Homo sapiens clone ccsbBroadEn_01389 REN gene, encodes complete protein.
KR711050 - Synthetic construct Homo sapiens clone CCSBHm_00019456 REN (REN) mRNA, encodes complete protein.
KR711051 - Synthetic construct Homo sapiens clone CCSBHm_00019457 REN (REN) mRNA, encodes complete protein.
KR711052 - Synthetic construct Homo sapiens clone CCSBHm_00019458 REN (REN) mRNA, encodes complete protein.
KR711053 - Synthetic construct Homo sapiens clone CCSBHm_00019459 REN (REN) mRNA, encodes complete protein.
AB464139 - Synthetic construct DNA, clone: pF1KB6590, Homo sapiens REN gene for renin, without stop codon, in Flexi system.
CU690486 - Synthetic construct Homo sapiens gateway clone IMAGE:100021411 5' read REN mRNA.
AF117822 - Homo sapiens renin b mRNA, partial cds.
JD147889 - Sequence 128913 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ace2Pathway - Angiotensin-converting enzyme 2 regulates heart function

Reactome (by CSHL, EBI, and GO)

Protein P00797 (Reactome details) participates in the following event(s):

R-HSA-2022412 Renin hydrolyzes Angiotensinogen to Angiotensin-(1-10)
R-HSA-2065357 Prorenin:Prorenin Receptor hydrolyzes Angiotensinogen to Angiotensin-(1-10)
R-HSA-2022403 Renin:Prorenin Receptor hydrolyzes Angiotensinogen to Angiotensin-(1-10)
R-HSA-2022377 Metabolism of Angiotensinogen to Angiotensins
R-HSA-2980736 Peptide hormone metabolism
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000272190.1, ENST00000272190.2, ENST00000272190.3, ENST00000272190.4, ENST00000272190.5, ENST00000272190.6, ENST00000272190.7, ENST00000272190.8, NM_000537, P00797, Q6FI38, Q6T5C2, RENI_HUMAN, uc317ixs.1, uc317ixs.2
UCSC ID: ENST00000272190.9_8
RefSeq Accession: NM_000537.4
Protein: P00797 (aka RENI_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene REN:
hyper-nfj2 (Autosomal Dominant Tubulointerstitial Kidney Disease -- REN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.