Gene: REN

Basic information

Tag Content
Uniprot ID P00797; Q6FI38; Q6T5C2;
Entrez ID 5972
Genbank protein ID AAA60364.1; AAA60263.1; ABY87560.1; AAA60262.1; AAR03502.1; AAH33474.1; AAH47752.1; AAA60365.1; CAG38737.1; AAA60363.1; AAD03461.1;
Genbank nucleotide ID NM_000537.3
Ensembl protein ID ENSP00000272190
Ensembl nucleotide ID ENSG00000143839
Gene name Renin
Gene symbol REN
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 2309700; 8454288;
Functional description 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.
Sequence
MDGWRRMPRW GLLLLLWGSC TFGLPTDTTT FKRIFLKRMP SIRESLKERG VDMARLGPEW 60
SQPMKRLTLG NTTSSVILTN YMDTQYYGEI GIGTPPQTFK VVFDTGSSNV WVPSSKCSRL 120
YTACVYHKLF DASDSSSYKH NGTELTLRYS TGTVSGFLSQ DIITVGGITV TQMFGEVTEM 180
PALPFMLAEF DGVVGMGFIE QAIGRVTPIF DNIISQGVLK EDVFSFYYNR DSENSQSLGG 240
QIVLGGSDPQ HYEGNFHYIN LIKTGVWQIQ MKGVSVGSST LLCEDGCLAL VDTGASYISG 300
STSSIEKLME ALGAKKRLFD YVVKCNEGPT LPDISFHLGG KEYTLTSADY VFQESYSSKK 360
LCTLAIHAMD IPPPTGPTWA LGATFIRKFY TEFDRRNNRI GFALAR 406

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologREN403838Q6DYE7Canis lupus familiarisPredictionMore>>
1:1 orthologRENA0A452ERZ4Capra hircusPredictionMore>>
1:1 orthologREN5972P00797Homo sapiensPublicationMore>>
1:1 orthologRen119701P06281Mus musculusPredictionMore>>
1:1 orthologREN469651H2R877Pan troglodytesPredictionMore>>
1:1 orthologRENA0A287APG1Sus scrofaPredictionMore>>
1:1 orthologRen124715P08424Rattus norvegicusPredictionMore>>
1:1 orthologrenQ6XQJ0Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004190 aspartic-type endopeptidase activityEXP
GO:0004190 aspartic-type endopeptidase activityIDA
GO:0004190 aspartic-type endopeptidase activityIBA
GO:0005102 signaling receptor bindingIPI
GO:0005159 insulin-like growth factor receptor bindingIEA
GO:0005515 protein bindingIPI
GO:0008233 peptidase activityIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0001822 kidney developmentIMP
GO:0001823 mesonephros developmentIEA
GO:0002003 angiotensin maturationIDA
GO:0002003 angiotensin maturationIBA
GO:0002003 angiotensin maturationTAS
GO:0002018 renin-angiotensin regulation of aldosterone productionIEA
GO:0006508 proteolysisIDA
GO:0006508 proteolysisIBA
GO:0008217 regulation of blood pressureTAS
GO:0008584 male gonad developmentIEA
GO:0009755 hormone-mediated signaling pathwayIEA
GO:0032496 response to lipopolysaccharideIEA
GO:0035690 cellular response to drugIEA
GO:0035902 response to immobilization stressIEA
GO:0042756 drinking behaviorIEA
GO:0043408 regulation of MAPK cascadeIDA
GO:0048469 cell maturationIEA
GO:0050435 amyloid-beta metabolic processIEA
GO:0051591 response to cAMPIEA
GO:0070305 response to cGMPIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIDA
GO:0005615 extracellular spaceIBA
GO:0005737 cytoplasmIEA
GO:0005886 plasma membraneTAS
GO:0045177 apical part of cellIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-2022377 Metabolism of Angiotensinogen to AngiotensinsTAS
R-HSA-2980736 Peptide hormone metabolismTAS
R-HSA-392499 Metabolism of proteinsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0064 Aspartyl protease
KW-0165 Cleavage on pair of basic residues
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0378 Hydrolase
KW-0472 Membrane
KW-0621 Polymorphism
KW-0645 Protease
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal
KW-0865 Zymogen

Interpro

InterPro ID InterPro Term
IPR001461 Aspartic_peptidase_A1
IPR001969 Aspartic_peptidase_AS
IPR012848 Aspartic_peptidase_N
IPR033121 PEPTIDASE_A1
IPR021109 Peptidase_aspartic_dom_sf
IPR034135 Renin-like_dom

PROSITE

PROSITE ID PROSITE Term
PS00141 ASP_PROTEASE
PS51767 PEPTIDASE_A1

Pfam

Pfam ID Pfam Term
PF07966 A1_Propeptide
PF00026 Asp

Protein-protein interaction

Protein-miRNA interaction