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    REN renin [ Homo sapiens (human) ]

    Gene ID: 5972, updated on 30-Apr-2024

    Summary

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    Official Symbol
    RENprovided by HGNC
    Official Full Name
    reninprovided by HGNC
    Primary source
    HGNC:HGNC:9958
    See related
    Ensembl:ENSG00000143839 MIM:179820; AllianceGenome:HGNC:9958
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RTD; HNFJ2; ADTKD4
    Summary
    This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activation pathway of angiotensinogen by cleaving angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. This cascade can result in aldosterone release, narrowing of blood vessels, and increase in blood pressure as angiotension II is a vasoconstrictive peptide. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause hyperuricemic nephropathy familial juvenile 2, familial hyperproreninemia, and renal tubular dysgenesis. [provided by RefSeq, May 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
    Expression
    Biased expression in kidney (RPKM 16.5), placenta (RPKM 13.8) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q32.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (204154819..204166337, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (203418967..203430485, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (204123947..204135465, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204042922-204043614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204044309-204045000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204046628-204047556 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204047557-204048485 Neighboring gene Sharpr-MPRA regulatory region 2526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204051273-204052200 Neighboring gene SRY-box transcription factor 13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204056259-204056803 Neighboring gene HNF4 motif-containing MPRA enhancer 209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204076334-204077177 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204077178-204078020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204078021-204078864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204094655-204095156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204095157-204095656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204099007-204099510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204099511-204100013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204100030-204100566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204100567-204101102 Neighboring gene ethanolamine kinase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204120251-204120950 Neighboring gene estrogen receptor responsive lncRNA 1 Neighboring gene REN promoter and enhancer region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204147944-204148444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2359 Neighboring gene KiSS-1 metastasis suppressor Neighboring gene tripartite motif containing 60 pseudogene Neighboring gene golgi transport 1A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Prorenin periconceptionally and in pregnancy: Does it have a physiological role? Wiegel RE, et al. Mol Cell Endocrinol, 2021 Jun 1. PMID 33878417
    2. Angiotensin dependent and angiotensin independent protective effects of renin-b in H9c2 cells after anoxia. Wanka H, et al. Sci Rep, 2020 Nov 12. PMID 33184370, Free PMC Article
    3. The role of kallikrein-kinin and renin-angiotensin systems in COVID-19 infection. Carvalho PR, et al. Peptides, 2021 Jan. PMID 33065209, Free PMC Article
    4. A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis. Dilliott AA, et al. Am J Med Genet A, 2020 Oct. PMID 33043632
    5. An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Živná M, et al. Kidney Int, 2020 Dec. PMID 32750457, Free PMC Article

    See all (270) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of the brain renin-angiotensin system in Parkinson s disease.
      Title: The role of the brain renin-angiotensin system in Parkinson´s disease.
    2. Plasma renin as a novel prognostic biomarker of sepsis-associated acute respiratory distress syndrome.
      Title: Plasma renin as a novel prognostic biomarker of sepsis-associated acute respiratory distress syndrome.
    3. The Relationship between Renin-Angiotensin-Aldosterone System (RAAS) Activity, Osteoporosis and Estrogen Deficiency in Type 2 Diabetes.
      Title: The Relationship between Renin-Angiotensin-Aldosterone System (RAAS) Activity, Osteoporosis and Estrogen Deficiency in Type 2 Diabetes.
    4. The alternative renin-angiotensin-system (RAS) signalling pathway in prostate cancer and its link to the current COVID-19 pandemic.
      Title: The alternative renin-angiotensin-system (RAS) signalling pathway in prostate cancer and its link to the current COVID-19 pandemic.
    5. Counter-regulatory renin-angiotensin system in hypertension: Review and update in the era of COVID-19 pandemic.
      Title: Counter-regulatory renin-angiotensin system in hypertension: Review and update in the era of COVID-19 pandemic.
    6. Sequence variants in the renin-angiotensin system genes are associated with isolated multicystic dysplastic kidney in children.
      Title: Sequence variants in the renin-angiotensin system genes are associated with isolated multicystic dysplastic kidney in children.
    7. Prorenin periconceptionally and in pregnancy: Does it have a physiological role?
      Title: Prorenin periconceptionally and in pregnancy: Does it have a physiological role?
    8. The differential activation of cardiovascular hormones across distinct stages of portal hypertension predicts clinical outcomes.
      Title: The differential activation of cardiovascular hormones across distinct stages of portal hypertension predicts clinical outcomes.
    9. Urinary soluble (pro)renin receptor excretion is associated with urine pH in humans.
      Title: Urinary soluble (pro)renin receptor excretion is associated with urine pH in humans.
    10. Intermittent Hypoxia Upregulates the Renin and Cd38 mRNAs in Renin-Producing Cells via the Downregulation of miR-203.
      Title: Intermittent Hypoxia Upregulates the Renin and Cd38 mRNAs in Renin-Producing Cells via the Downregulation of miR-203.
    Submit: New GeneRIF Correction See all GeneRIFs (192)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Renin cleaves HIV-1 Gag to enhance HIV-1 replication in human T cells PubMed
    gag Renin modulates HIV-1 replication by enhancing HIV-1 Gag. CA/p24, and genomic RNA expressions in human T cells PubMed
    capsid gag Renin modulates HIV-1 replication by enhancing HIV-1 Gag. CA/p24, and genomic RNA expressions in human T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10761

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aspartic-type endopeptidase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables aspartic-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aspartic-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables insulin-like growth factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amyloid-beta metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in angiotensin maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in angiotensin maturation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in angiotensin maturation TAS
    Traceable Author Statement
    more info
    		  
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in drinking behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hormone-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in juxtaglomerular apparatus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mesonephros development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of blood pressure TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in renin-angiotensin regulation of aldosterone production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cAMP IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cGMP IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to immobilization stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    renin
    Names
    angiotensin-forming enzyme
    angiotensinogenase
    renin precursor, renal
    NP_000528.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012122.1 RefSeqGene

      Range
      5001..16519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000537.4 → NP_000528.1  renin preproprotein

      See identical proteins and their annotated locations for NP_000528.1

      Status: REVIEWED

      Source sequence(s)
      BC033474, BP321283
      Consensus CDS
      CCDS30981.1
      UniProtKB/Swiss-Prot
      P00797, Q6FI38, Q6T5C2
      UniProtKB/TrEMBL
      A0A1B0GUZ2
      Related
      ENSP00000272190.8, ENST00000272190.9
      Conserved Domains (2) summary
      cd05487
      Location:78 → 405
      renin_like; Renin stimulates production of angiotensin and thus affects blood pressure
      pfam07966
      Location:33 → 51
      A1_Propeptide; A1 Propeptide

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      204154819..204166337 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      203418967..203430485 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00797.1 GenPept UniProtKB/Swiss-Prot:P00797

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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