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

Gene ID: 55328, updated on 12-Nov-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, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See RNLS in Genome Data Viewer
Location:
10q23.31
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (88171523..88583318, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (89050656..89467392, complement)
RS_2024_09 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 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 catalytic function of renalase: A decade of phantoms. Moran GR. Biochim Biophys Acta, 2016 Jan. PMID 25900362
  2. Kinetics and equilibria of the reductive and oxidative half-reactions of human renalase with α-NADPH. Beaupre BA, et al. Biochemistry, 2013 Dec 10. PMID 24266457
  3. Serum renalase is related to catecholamine levels and renal function. Wang F, et al. Clin Exp Nephrol, 2015 Feb. PMID 24590362
  4. Renalase gene polymorphism in patients with hypertension and concomitant coronary heart disease. Li X, et al. Kidney Blood Press Res, 2014. PMID 24821235
  5. Renalase gene polymorphism in patients after renal allograft transplantation. Pawlik A, et al. Kidney Blood Press Res, 2014. PMID 24923329

See all (91) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Renalase rs2296545 variant improve hypertension susceptibility by modifying binding affinity to catecholamines in obstructive sleep apnea.
    Title: Renalase rs2296545 variant improve hypertension susceptibility by modifying binding affinity to catecholamines in obstructive sleep apnea.
  2. Coexistence of Cardiovascular Risk Factors and Blood Renalase Concentration.
    Title: Coexistence of Cardiovascular Risk Factors and Blood Renalase Concentration.
  3. [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].
  4. 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.
  5. 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.
  6. Plasma renalase levels are associated with the development of acute pancreatitis.
    Title: Plasma renalase levels are associated with the development of acute pancreatitis.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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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)

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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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_2024_08

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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