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    RNLS renalase, FAD dependent amine oxidase [ Homo sapiens (human) ]

    Gene ID: 55328, updated on 11-Apr-2024

    Summary

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    Official Symbol
    RNLSprovided by HGNC
    Official Full Name
    renalase, FAD dependent amine oxidaseprovided by HGNC
    Primary source
    HGNC:HGNC:25641
    See related
    Ensembl:ENSG00000184719 MIM:609360; AllianceGenome:HGNC:25641
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C10orf59; RENALASE
    Summary
    Enables several functions, including NADH binding activity; epinephrine binding activity; and monoamine oxidase activity. Involved in negative regulation of blood pressure and negative regulation of heart rate. Located in extracellular region. Implicated in essential hypertension and hypertension. Biomarker of end stage renal disease. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    10q23.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (88171523..88583318, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (89050656..89467392, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (90033619..90343075, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378415 Neighboring gene Sharpr-MPRA regulatory region 10781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3719 Neighboring gene uncharacterized LOC105378416 Neighboring gene uncharacterized LOC101929727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3722 Neighboring gene vomeronasal 1 receptor 55 pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:90107282-90107945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3724 Neighboring gene lipase family member J Neighboring gene ribosomal protein L7 pseudogene 34 Neighboring gene lipase F, gastric type

    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. The Multi-Faceted Nature of Renalase for Mitochondrial Dysfunction Improvement in Cardiac Disease. Stojanovic D, et al. Cells, 2023 Jun 12. PMID 37371077, Free PMC Article
    2. Role of serum renalase levels in predicting the presence of metabolic syndrome in patients with polycystic ovary syndrome. Ersak B, et al. Taiwan J Obstet Gynecol, 2023 May. PMID 37188446
    3. Plasma renalase levels are associated with the development of acute pancreatitis. Wang M, et al. Pancreatology, 2023 Mar. PMID 36697349
    4. Evaluation of the association of the Renalase rs10887800 polymorphism with the risk of preeclampsia in Brazilian women. de Freitas Moura MS, et al. Pregnancy Hypertens, 2022 Mar. PMID 35104783
    5. Renalase gene polymorphisms and plasma levels are associated with preeclampsia: a hospital-based study in the Chinese cohort. Li X, et al. Women Health, 2021 Nov-Dec. PMID 34724880

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Coexistence of Cardiovascular Risk Factors and Blood Renalase Concentration.
      Title: Coexistence of Cardiovascular Risk Factors and Blood Renalase Concentration.
    2. [The association of renalase single-nucleotide polymorphisms rs2576178 and rs10887800 with hypertension in patients with obstructive sleep apnea].
      Title: [The association of renalase single-nucleotide polymorphisms rs2576178 and rs10887800 with hypertension in patients with obstructive sleep apnea].
    3. The Multi-Faceted Nature of Renalase for Mitochondrial Dysfunction Improvement in Cardiac Disease.
      Title: The Multi-Faceted Nature of Renalase for Mitochondrial Dysfunction Improvement in Cardiac Disease.
    4. Role of serum renalase levels in predicting the presence of metabolic syndrome in patients with polycystic ovary syndrome.
      Title: Role of serum renalase levels in predicting the presence of metabolic syndrome in patients with polycystic ovary syndrome.
    5. Plasma renalase levels are associated with the development of acute pancreatitis.
      Title: Plasma renalase levels are associated with the development of acute pancreatitis.
    6. Renalase and its receptor, PMCA4b, are expressed in the placenta throughout the human gestation.
      Title: Renalase and its receptor, PMCA4b, are expressed in the placenta throughout the human gestation.
    7. Evaluation of the association of the Renalase rs10887800 polymorphism with the risk of preeclampsia in Brazilian women.
      Title: Evaluation of the association of the Renalase rs10887800 polymorphism with the risk of preeclampsia in Brazilian women.
    8. The Effect of Renalase rs2576178 and rs10887800 Polymorphisms on Ischemic Stroke Susceptibility in Young Patients (<50 Years): A Case-Control Study and In Silico Analysis.
      Title: The Effect of Renalase rs2576178 and rs10887800 Polymorphisms on Ischemic Stroke Susceptibility in Young Patients (<50 Years): A Case-Control Study and In Silico Analysis.
    9. Renalase gene polymorphisms and plasma levels are associated with preeclampsia: a hospital-based study in the Chinese cohort.
      Title: Renalase gene polymorphisms and plasma levels are associated with preeclampsia: a hospital-based study in the Chinese cohort.
    10. Elevated Levels of Renalase, the beta-NAD(P)H Isomerase, Can Be Used as Risk Factors of Major Adverse Cardiovascular Events and All-Cause Death in Patients with Chronic Kidney Disease.
      Title: Elevated Levels of Renalase, the β-NAD(P)H Isomerase, Can Be Used as Risk Factors of Major Adverse Cardiovascular Events and All-Cause Death in Patients with Chronic Kidney Disease.
    Submit: New GeneRIF Correction See all GeneRIFs (76)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    EBI GWAS Catalog

    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

    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

    • FLJ11218

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables epinephrine binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables monoamine oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables oxidoreductase activity, acting on NAD(P)H IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxidoreductase activity, acting on NAD(P)H IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of blood pressure IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of heart rate IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to catecholamine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to epinephrine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to ischemia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to salt IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    renalase
    Names
    MAO-C
    alpha-NAD(P)H oxidase/anomerase
    monoamine oxidase-C
    NP_001026879.2
    NP_060833.1
    XP_005270004.1
    XP_005270005.1
    XP_005270006.1
    XP_011538226.1
    XP_011538229.1
    XP_016871869.1
    XP_016871870.1
    XP_016871871.1
    XP_016871873.1
    XP_016871874.1
    XP_047281391.1
    XP_047281392.1
    XP_054222197.1
    XP_054222198.1
    XP_054222199.1
    XP_054222200.1
    XP_054222201.1
    XP_054222202.1
    XP_054222203.1
    XP_054222204.1
    XP_054222205.1
    XP_054222206.1
    XP_054222207.1
    XP_054222208.1

    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.

    mRNA and Protein(s)

    1. NM_001031709.3 → NP_001026879.2  renalase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001026879.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA854849, AL353149, BC005364, BM978857, BP332262
      Consensus CDS
      CCDS31239.1
      UniProtKB/Swiss-Prot
      Q5VYX0, Q9BS33, Q9NUP8
      Related
      ENSP00000332530.4, ENST00000331772.9
      Conserved Domains (3) summary
      COG3380
      Location:1 → 342
      COG3380; Predicted NAD/FAD-dependent oxidoreductase [General function prediction only]
      pfam13450
      Location:6 → 80
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109 → 226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_018363.4 → NP_060833.1  renalase isoform 2 precursor

      See identical proteins and their annotated locations for NP_060833.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK002080, AL353149, BP332262
      Consensus CDS
      CCDS7388.1
      UniProtKB/Swiss-Prot
      Q5VYX0
      Related
      ENSP00000361015.3, ENST00000371947.7
      Conserved Domains (2) summary
      pfam13450
      Location:6 → 80
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109 → 226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      88171523..88583318 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016382.3 → XP_016871871.1  renalase isoform X8

      UniProtKB/TrEMBL
      B4DJW3
      Conserved Domains (1) summary
      pfam13450
      Location:6 → 40
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    2. XM_011539924.4 → XP_011538226.1  renalase isoform X1

      See identical proteins and their annotated locations for XP_011538226.1

      UniProtKB/Swiss-Prot
      Q5VYX0
      Conserved Domains (2) summary
      pfam13450
      Location:6 → 80
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109 → 226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. XM_017016380.3 → XP_016871869.1  renalase isoform X1

      UniProtKB/Swiss-Prot
      Q5VYX0
      Conserved Domains (2) summary
      pfam13450
      Location:6 → 80
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109 → 226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. XM_017016384.3 → XP_016871873.1  renalase isoform X10

    5. XM_005269948.4 → XP_005270005.1  renalase isoform X6

      Conserved Domains (2) summary
      COG3380
      Location:41 → 259
      COG3380; Predicted NAD/FAD-dependent oxidoreductase [General function prediction only]
      pfam13450
      Location:6 → 40
      NAD_binding_8; NAD(P)-binding Rossmann-like domain

    6. XM_005269947.3 → XP_005270004.1  renalase isoform X5

      Conserved Domains (2) summary
      pfam13450
      Location:6 → 80
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109 → 226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    7. XM_017016385.2 → XP_016871874.1  renalase isoform X11

    8. XM_047425436.1 → XP_047281392.1  renalase isoform X9

    9. XM_011539927.4 → XP_011538229.1  renalase isoform X3

      Conserved Domains (2) summary
      pfam13450
      Location:6 → 80
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109 → 226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    10. XM_047425435.1 → XP_047281391.1  renalase isoform X2

    11. XM_017016381.3 → XP_016871870.1  renalase isoform X4

    12. XM_005269949.6 → XP_005270006.1  renalase isoform X7

      Conserved Domains (2) summary
      pfam13450
      Location:6 → 80
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109 → 226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RNA

    1. XR_001747122.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      89050656..89467392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366230.1 → XP_054222205.1  renalase isoform X8

    2. XM_054366222.1 → XP_054222197.1  renalase isoform X1

    3. XM_054366223.1 → XP_054222198.1  renalase isoform X1

    4. XM_054366229.1 → XP_054222204.1  renalase isoform X8

    5. XM_054366232.1 → XP_054222207.1  renalase isoform X10

    6. XM_054366227.1 → XP_054222202.1  renalase isoform X6

    7. XM_054366226.1 → XP_054222201.1  renalase isoform X5

    8. XM_054366233.1 → XP_054222208.1  renalase isoform X11

    9. XM_054366231.1 → XP_054222206.1  renalase isoform X9

    10. XM_054366224.1 → XP_054222199.1  renalase isoform X3

    11. XM_054366225.1 → XP_054222200.1  renalase isoform X4

    12. XM_054366228.1 → XP_054222203.1  renalase isoform X7

    RNA

    1. XR_008488226.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VYX0.1 GenPept UniProtKB/Swiss-Prot:Q5VYX0

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