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NOX5 NADPH oxidase 5 [ Homo sapiens (human) ]

Gene ID: 79400, updated on 5-Dec-2022

Summary

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
This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Expression
Biased expression in spleen (RPKM 7.9), testis (RPKM 4.2) and 3 other tissues See more
Orthologs
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Genomic context

See NOX5 in Genome Data Viewer
Location:
15q23
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (68930525..69062762)
110 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 ANP32A intronic transcript 1 Neighboring gene cytokine induced apoptosis inhibitor 1 pseudogene Neighboring gene sperm equatorial segment protein 1 Neighboring gene ATP binding cassette subfamily G member 2 (Junior blood group) pseudogene Neighboring gene uncharacterized LOC124903515 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

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
PubMed 
enables superoxide-generating NAD(P)H oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
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
PubMed 

General protein information

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_001184779.2NP_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_001184780.2NP_001171709.1  NADPH oxidase 5 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, alternately referred to as v6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC027088, AF325189, AI091544, BC125097, DA739867, DQ413001
    Consensus CDS
    CCDS53953.1
    UniProtKB/Swiss-Prot
    Q96PH1
    UniProtKB/TrEMBL
    A3QRJ0
    Related
    ENSP00000515387.1, ENST00000703585.1
    Conserved Domains (4) summary
    cd06186
    Location:413730
    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:90157
    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:261367
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam13499
    Location:91155
    EF-hand_7; EF-hand domain pair
  3. 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
    Q96PH1, Q9HAM8
    UniProtKB/TrEMBL
    A3QRJ0
    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

RNA

  1. NR_033671.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as NOX5 delta) contains two alternate 5' exons and lacks an exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC027088, AF325190, AI091544
    Related
    ENST00000260364.9
  2. NR_033672.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as NOX5 beta) contains two alternate exons, lacks an alternate exon, and uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC027088, AF325189, AI091544, DQ413001

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)