CleftGeneDB-Search

Gene: Ren1

Basic information

Tag	Content
Uniprot ID	P06281; P97911; Q543E5; Q62153; Q62154;
Entrez ID	19701
Genbank protein ID	AAA40044.1; AAA40045.1; CAA34636.1; BAC39418.1; AAA40042.1; AAH61053.1; CAA25391.1; BAC35094.1; AAA40043.1;
Genbank nucleotide ID	NM_031192.3
Ensembl protein ID	ENSMUSP00000092135
Ensembl nucleotide ID	ENSMUSG00000070645
Gene name	Renin-1
Gene symbol	Ren1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
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	MDRRRMPLWA LLLLWSPCTF SLPTRTATFE RIPLKKMPSV REILEERGVD MTRLSAEWGV 60 FTKRPSLTNL TSPVVLTNYL NTQYYGEIGI GTPPQTFKVI FDTGSANLWV PSTKCSRLYL 120 ACGIHSLYES SDSSSYMENG SDFTIHYGSG RVKGFLSQDS VTVGGITVTQ TFGEVTELPL 180 IPFMLAKFDG VLGMGFPAQA VGGVTPVFDH ILSQGVLKEE VFSVYYNRGS HLLGGEVVLG 240 GSDPQHYQGN FHYVSISKTD SWQITMKGVS VGSSTLLCEE GCAVVVDTGS SFISAPTSSL 300 KLIMQALGAK EKRIEEYVVN CSQVPTLPDI SFDLGGRAYT LSSTDYVLQY PNRRDKLCTL 360 ALHAMDIPPP TGPVWVLGAT FIRKFYTEFD RHNNRIGFAL AR 402

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.

Protein structural annotations

3D structure in PDB database

PDB ID
5MKT

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	REN	403838	Q6DYE7	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	REN		A0A452ERZ4	Capra hircus	Prediction	More>>
1:1 ortholog	REN	5972	P00797	Homo sapiens	Publication	More>>
1:1 ortholog	Ren1	19701	P06281	Mus musculus	Prediction	More>>
1:1 ortholog	REN	469651	H2R877	Pan troglodytes	Prediction	More>>
1:1 ortholog	REN		A0A287APG1	Sus scrofa	Prediction	More>>
1:1 ortholog	Ren1	24715	P08424	Rattus norvegicus	Prediction	More>>
1:1 ortholog	ren		Q6XQJ0	Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1133798437	p.Arg25Gly	missense variant	-	NC_000067.6:g.133350778C>G	UniProt
rs107802402	p.Trp58Arg	missense variant	-	NC_000067.6:g.133354206T>A	UniProt
	p.Trp58Arg	Missense	-	-	UniProt
rs1134543867	p.Gly59Asp	missense variant	-	NC_000067.6:g.133354210G>A	UniProt
rs1132448167	p.Pro65Ser	missense variant	-	NC_000067.6:g.133354227C>T	UniProt
rs108102082	p.Thr68Ile	missense variant	-	NC_000067.6:g.133354237C>T	UniProt
	p.Thr68Ile	Missense	-	-	UniProt
rs1133885699	p.Asn69Asp	missense variant	-	NC_000067.6:g.133354239A>G	UniProt
rs220429640	p.Thr71Ile	missense variant	-	NC_000067.6:g.133354246C>T	UniProt
rs107864959	p.Thr82Ser	missense variant	-	NC_000067.6:g.133354803C>G	UniProt
rs1132908945	p.Ser141Ala	missense variant	-	NC_000067.6:g.133355548T>G	UniProt
rs1132112545	p.Ser141Tyr	missense variant	-	NC_000067.6:g.133355549C>A	UniProt
rs108831415	p.Ser160Leu	missense variant	-	NC_000067.6:g.133355606C>T	UniProt
rs108611142	p.Ser160Ala	missense variant	-	NC_000067.6:g.133355605T>G	UniProt
	p.Ser160Val	Missense	-	-	UniProt
rs1133793707	p.Lys187Gln	missense variant	-	NC_000067.6:g.133356457A>C	UniProt
rs1133142258	p.Glu220Lys	missense variant	-	NC_000067.6:g.133356556G>A	UniProt
rs1133659406	p.Ser230Pro	missense variant	-	NC_000067.6:g.133358408T>C	UniProt
rs1133654558	p.Gln245Glu	missense variant	-	NC_000067.6:g.133358453C>G	UniProt
rs1133318563	p.Asn250Asp	missense variant	-	NC_000067.6:g.133358468A>G	UniProt
rs1132519928	p.Ile256Leu	missense variant	-	NC_000067.6:g.133358486A>C	UniProt
rs387510810	p.Ala283Glu	missense variant	-	NC_000067.6:g.133358982C>A	UniProt
rs1132703423	p.Ile314Leu	missense variant	-	NC_000067.6:g.133359074A>C	UniProt
rs3166350	p.Glu315Asp	missense variant	-	NC_000067.6:g.133359079A>T	UniProt
rs1131896803	p.Glu315Gln	missense variant	-	NC_000067.6:g.133359077G>C	UniProt
	p.Glu315Asp	Missense	-	-	UniProt
rs1133994847	p.Asn320Ser	missense variant	-	NC_000067.6:g.133359344A>G	UniProt
rs1132528680	p.Asp333Asn	missense variant	-	NC_000067.6:g.133359382G>A	UniProt
rs1134079730	p.Asn352Tyr	missense variant	-	NC_000067.6:g.133359983A>T	UniProt
	p.Asn352Tyr	Missense	-	-	UniProt
rs1134647268	p.Leu360Val	missense variant	-	NC_000067.6:g.133360007C>G	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004175	endopeptidase activity	ISO
GO:0004175	endopeptidase activity	IDA
GO:0004190	aspartic-type endopeptidase activity	ISO
GO:0004190	aspartic-type endopeptidase activity	IBA
GO:0005102	signaling receptor binding	ISO
GO:0005159	insulin-like growth factor receptor binding	ISO
GO:0008233	peptidase activity	ISO

GO:Biological Process

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

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	IDA
GO:0005615	extracellular space	IBA
GO:0005737	cytoplasm	ISO
GO:0016020	membrane	IEA
GO:0045177	apical part of cell	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-2022377	Metabolism of Angiotensinogen to Angiotensins	IEA
R-MMU-2980736	Peptide hormone metabolism	IEA
R-MMU-392499	Metabolism of proteins	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of REN1 mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of REN1 mRNA	21346803
C496492	abrine	abrine results in increased expression of REN1 mRNA	22595364
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of REN1 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of REN1 mRNA]	17585979
C006780	bisphenol A	bisphenol A results in increased expression of REN1 mRNA	26063408
C006780	bisphenol A	bisphenol A results in increased methylation of REN1 promoter	27312807
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of REN1 mRNA	16644059
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of REN1 protein	16713642
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of REN1 mRNA	20938992
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of REN1 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of REN1 mRNA]	17585979
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of REN1 mRNA	19850644
D004051	Diethylhexyl Phthalate	PPARA protein inhibits the reaction [Diethylhexyl Phthalate results in decreased expression of REN1 mRNA]	19850644
D004317	Doxorubicin	Doxorubicin results in increased expression of REN1 mRNA	15033991
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of REN1 mRNA	20938992
C492448	ICG 001	ICG 001 inhibits the reaction [AGT protein results in increased expression of REN1 protein]	28578904
D019808	Losartan	Losartan inhibits the reaction [AGT protein results in increased expression of REN1 protein]	28578904
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of REN1 mRNA	20938992
D020105	Milrinone	Milrinone inhibits the reaction [NOS1 gene mutant form results in decreased secretion of REN1 protein]	20651700
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in increased expression of REN1 mRNA	29244179
C002741	N-nitrosomorpholine	N-nitrosomorpholine results in increased expression of REN1 protein	19716841
D000069463	Olive Oil	Olive Oil analog affects the expression of REN1 mRNA	17349074
C084656	paricalcitol	[Phosphorus co-treated with paricalcitol] results in decreased expression of REN1 mRNA	17715259
D010656	Phenylephrine	REN1 protein affects the susceptibility to Phenylephrine	17679040
D010758	Phosphorus	[Phosphorus co-treated with paricalcitol] results in decreased expression of REN1 mRNA	17715259
C006253	pirinixic acid	pirinixic acid results in decreased expression of REN1 mRNA	20059764
C006253	pirinixic acid	PPARA protein promotes the reaction [pirinixic acid results in decreased expression of REN1 mRNA]	20059764
C019536	potassium bromate	potassium bromate results in increased expression of REN1 mRNA	23588252
D012965	Sodium Chloride	Sodium Chloride results in increased expression of REN1 protein	15134804
D013749	Tetrachlorodibenzodioxin	AHR protein promotes the reaction [Tetrachlorodibenzodioxin results in decreased expression of REN1 mRNA]	12151645
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of REN1 mRNA	12151645; 12215675;
D014212	Tretinoin	Tretinoin results in decreased expression of REN1 mRNA	16604517

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0064	Aspartyl protease
KW-0903	Direct protein sequencing
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