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    NOX5 NADPH oxidase 5 [ Homo sapiens (human) ]

    Gene ID: 79400, updated on 25-Mar-2024

    Summary

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    Official Symbol
    NOX5provided by HGNC
    Official Full Name
    NADPH oxidase 5provided by HGNC
    Primary source
    HGNC:HGNC:14874
    See related
    Ensembl:ENSG00000290203 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 endothelial cell proliferation; positive regulation of reactive oxygen species metabolic process; and superoxide anion generation. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in spleen (RPKM 7.9), testis (RPKM 4.2) and 3 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    15q23
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (68930525..69062762)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (66753043..66885315)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (69222864..69355102)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene acidic nuclear phosphoprotein 32 family member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:69103956-69104456 Neighboring gene ANP32A intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9651 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:69109604-69110186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6591 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:69111351-69111932 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:69111933-69112514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6594 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6595 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:69115796-69116596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9652 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 sperm equatorial segment protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:69308141-69308642 Neighboring gene ATP binding cassette subfamily G member 2 (Junior 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

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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. Structure, regulation, and physiological functions of NADPH oxidase 5 (NOX5). García JG, et al. J Physiol Biochem, 2023 May. PMID 36905456, Free PMC Article
    2. Ca(2+) -binding-region-dependent cell surface localization of NADPH oxidase Nox5. Miyano K, et al. FEBS Lett, 2023 Mar. PMID 36653838
    3. Impact of calcium and reactive oxygen species on human sperm function: Role of NOX5. Keshtgar S, et al. Andrologia, 2022 Sep. PMID 35679508
    4. Independent of Renox, NOX5 Promotes Renal Inflammation and Fibrosis in Diabetes by Activating ROS-Sensitive Pathways. Jha JC, et al. Diabetes, 2022 Jun 1. PMID 35275988
    5. NOX5 mediates the crosstalk between tumor cells and cancer-associated fibroblasts via regulating cytokine network. Chen J, et al. Clin Transl Med, 2021 Aug. PMID 34459125, Free PMC Article

    See all (104) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structure, regulation, and physiological functions of NADPH oxidase 5 (NOX5).
      Title: Structure, regulation, and physiological functions of NADPH oxidase 5 (NOX5).
    2. Ca[2+] -binding-region-dependent cell surface localization of NADPH oxidase Nox5.
      Title: Ca(2+) -binding-region-dependent cell surface localization of NADPH oxidase Nox5.
    3. NOX2 and NOX5 are increased in cardiac microvascular endothelium of deceased COVID-19 patients.
      Title: NOX2 and NOX5 are increased in cardiac microvascular endothelium of deceased COVID-19 patients.
    4. Impact of calcium and reactive oxygen species on human sperm function: Role of NOX5.
      Title: Impact of calcium and reactive oxygen species on human sperm function: Role of NOX5.
    5. Nicotine promotes vascular calcification via intracellular Ca2+-mediated, Nox5-induced oxidative stress, and extracellular vesicle release in vascular smooth muscle cells.
      Title: Nicotine promotes vascular calcification via intracellular Ca2+-mediated, Nox5-induced oxidative stress, and extracellular vesicle release in vascular smooth muscle cells.
    6. Independent of Renox, NOX5 Promotes Renal Inflammation and Fibrosis in Diabetes by Activating ROS-Sensitive Pathways.
      Title: Independent of Renox, NOX5 Promotes Renal Inflammation and Fibrosis in Diabetes by Activating ROS-Sensitive Pathways.
    7. NOX5 mediates the crosstalk between tumor cells and cancer-associated fibroblasts via regulating cytokine network.
      Title: NOX5 mediates the crosstalk between tumor cells and cancer-associated fibroblasts via regulating cytokine network.
    8. NADPH oxidase 5 has a crucial role in cellular motility of colon cancer cells.
      Title: NADPH oxidase 5 has a crucial role in cellular motility of colon cancer cells.
    9. Membranous NOX5-derived ROS oxidizes and activates local Src to promote malignancy of tumor cells.
      Title: Membranous NOX5-derived ROS oxidizes and activates local Src to promote malignancy of tumor cells.
    10. Implications of NADPH oxidase 5 in vascular diseases.
      Title: Implications of NADPH oxidase 5 in vascular diseases.
    Submit: New GeneRIF Correction See all GeneRIFs (86)

    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 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

    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
    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

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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

    Readthrough SPESP1-NOX5

    Readthrough gene: SPESP1-NOX5, Included gene: SPESP1

    Homology

    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 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
    		  
    enables superoxide-generating NAD(P)H oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables superoxide-generating NADPH oxidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cytoskeleton-dependent cytokinesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in defense response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cytokine production NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of fusion of sperm to egg plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in superoxide anion generation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in superoxide anion generation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of NADPH oxidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  

    General protein information

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

    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.

    Genomic

    1. NG_030464.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001184779.2 → NP_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:420 → 737
      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:97 → 164
      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:268 → 374
      Ferric_reduct; Ferric reductase like transmembrane component
      pfam13499
      Location:98 → 162
      EF-hand_7; EF-hand domain pair

    2. NM_024505.4 → NP_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:448 → 765
      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:97 → 192
      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:296 → 402
      Ferric_reduct; Ferric reductase like transmembrane component
      pfam13499
      Location:98 → 190
      EF-hand_7; EF-hand domain pair

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      68930525..69062762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      66753043..66885315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PH1.1 GenPept UniProtKB/Swiss-Prot:Q96PH1

    Gene LinkOut

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

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