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

    Gene ID: 55328, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001031709.3NP_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:1342
      COG3380; Predicted NAD/FAD-dependent oxidoreductase [General function prediction only]
      pfam13450
      Location:680
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    2. NM_018363.4NP_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:680
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109226
      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_017016382.3XP_016871871.1  renalase isoform X8

      UniProtKB/TrEMBL
      B4DJW3
      Conserved Domains (1) summary
      pfam13450
      Location:640
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
    2. XM_011539924.4XP_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:680
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    3. XM_017016380.3XP_016871869.1  renalase isoform X1

      UniProtKB/Swiss-Prot
      Q5VYX0
      Conserved Domains (2) summary
      pfam13450
      Location:680
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    4. XM_017016384.3XP_016871873.1  renalase isoform X10

    5. XM_005269948.4XP_005270005.1  renalase isoform X6

      Conserved Domains (2) summary
      COG3380
      Location:41259
      COG3380; Predicted NAD/FAD-dependent oxidoreductase [General function prediction only]
      pfam13450
      Location:640
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
    6. XM_005269947.3XP_005270004.1  renalase isoform X5

      Conserved Domains (2) summary
      pfam13450
      Location:680
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    7. XM_017016385.2XP_016871874.1  renalase isoform X11

    8. XM_047425436.1XP_047281392.1  renalase isoform X9

    9. XM_011539927.4XP_011538229.1  renalase isoform X3

      Conserved Domains (2) summary
      pfam13450
      Location:680
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109226
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    10. XM_047425435.1XP_047281391.1  renalase isoform X2

    11. XM_017016381.3XP_016871870.1  renalase isoform X4

    12. XM_005269949.6XP_005270006.1  renalase isoform X7

      Conserved Domains (2) summary
      pfam13450
      Location:680
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      cl21454
      Location:109226
      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_054366230.1XP_054222205.1  renalase isoform X8

    2. XM_054366222.1XP_054222197.1  renalase isoform X1

    3. XM_054366223.1XP_054222198.1  renalase isoform X1

    4. XM_054366229.1XP_054222204.1  renalase isoform X8

    5. XM_054366232.1XP_054222207.1  renalase isoform X10

    6. XM_054366227.1XP_054222202.1  renalase isoform X6

    7. XM_054366226.1XP_054222201.1  renalase isoform X5

    8. XM_054366233.1XP_054222208.1  renalase isoform X11

    9. XM_054366231.1XP_054222206.1  renalase isoform X9

    10. XM_054366224.1XP_054222199.1  renalase isoform X3

    11. XM_054366225.1XP_054222200.1  renalase isoform X4

    12. XM_054366228.1XP_054222203.1  renalase isoform X7

    RNA

    1. XR_008488226.1 RNA Sequence