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    NOX5 NADPH oxidase 5 [ Homo sapiens (human) ]

    Gene ID: 79400, updated on 10-Dec-2024

    Summary

    Official Symbol
    NOX5provided by HGNC
    Official Full Name
    NADPH oxidase 5provided by HGNC
    Primary source
    HGNC:HGNC:14874
    See related
    MIM:606572; AllianceGenome:HGNC:14874
    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
    Summary
    Enables proton channel activity and superoxide-generating NAD(P)H oxidase activity. Involved in several processes, including positive regulation of reactive oxygen species metabolic process; proton transmembrane transport; and superoxide anion generation. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in spleen (RPKM 7.9), testis (RPKM 4.2) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NOX5 in Genome Data Viewer
    Location:
    15q23
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (69014695..69062762)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (66837229..66885315)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (69307034..69355102)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9653 Neighboring gene cytokine induced apoptosis inhibitor 1 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:69167471-69168078 Neighboring gene MPRA-validated peak2374 silencer Neighboring gene SPESP1-NOX5 readthrough Neighboring gene sperm equatorial segment protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:69308141-69308642 Neighboring gene ATP binding cassette subfamily G member 2 (JR blood group) pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:69318396-69318896 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:69328421-69329620 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:69341256-69341437 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:69352321-69352820 Neighboring gene uncharacterized LOC124903515 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:69378684-69379278 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:69382031-69382532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:69385773-69386273 Neighboring gene Ewing sarcoma associated transcript 1

    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 evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 binding to CXCR4 induces NADPH oxidase-mediated production of superoxide radicals in neurons, which is involved in the activation of neutral sphingomyelinase PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 inhibits the cellular immune response and enhances oxidative stress mediated by NADPH oxidase PubMed
    Tat tat PDGF-BB inhibits NADPH oxidase-mediated reactive oxygen species production induced by HIV-1 Tat and morphine treatment in neuroblastoma cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough SPESP1-NOX5

    Readthrough gene: SPESP1-NOX5, Included gene: SPESP1

    Clone Names

    • MGC149776, MGC149777

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADP binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables flavin adenine dinucleotide binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables heme binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proton channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables superoxide-generating NAD(P)H oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT contributes_to superoxide-generating NAD(P)H oxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables superoxide-generating NAD(P)H oxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables superoxide-generating NAD(P)H oxidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables superoxide-generating NADPH oxidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of NADPH oxidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    NADPH oxidase 5
    Names
    NADPH oxidase, EF-hand calcium binding domain 5

    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.

    Genomic

    1. NG_030464.2 RefSeqGene

      Range
      89172..137239
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184779.2NP_001171708.1  NADPH oxidase 5 isoform 2

      See identical proteins and their annotated locations for NP_001171708.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, alternately referred to as NOX5 alpha and v1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC027088, AF353088, AI091544, DA868876, DQ413001
      Consensus CDS
      CCDS53954.1
      UniProtKB/Swiss-Prot
      Q96PH1
      UniProtKB/TrEMBL
      A3QRJ0
      Conserved Domains (4) summary
      cd06186
      Location:420737
      NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...
      cd00051
      Location:97164
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam01794
      Location:268374
      Ferric_reduct; Ferric reductase like transmembrane component
      pfam13499
      Location:98162
      EF-hand_7; EF-hand domain pair
    2. NM_024505.4NP_078781.3  NADPH oxidase 5 isoform 1

      See identical proteins and their annotated locations for NP_078781.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, alternately referred to as NOX5 gamma and v3) encodes the longest isoform (1).
      Source sequence(s)
      AC027088, AF353089, AI091544, DA868876, DQ413001
      Consensus CDS
      CCDS32276.2
      UniProtKB/Swiss-Prot
      B2RBJ4, Q08AN2, Q08AN3, Q8TEQ1, Q8TER4, Q96PH1, Q96PH2, Q96PJ8, Q96PJ9, Q9H6E0, Q9HAM8
      Conserved Domains (4) summary
      cd06186
      Location:448765
      NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...
      cd00051
      Location:97192
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam01794
      Location:296402
      Ferric_reduct; Ferric reductase like transmembrane component
      pfam13499
      Location:98190
      EF-hand_7; EF-hand domain pair

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      69014695..69062762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      66837229..66885315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)