NOX3 NADPH oxidase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOX3provided by HGNC
Official Full Name: NADPH oxidase 3provided by HGNC
Primary source: HGNC:HGNC:7890
See related: Ensembl:ENSG00000074771 MIM:607105; AllianceGenome:HGNC:7890
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
Also known as: MOX-2; GP91-3
Summary: This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (155395368..155455839, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (156597411..156657886, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (155716502..155776973, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associations of noise kurtosis, genetic variations in NOX3 and lifestyle factors with noise-induced hearing loss.
Title: Associations of noise kurtosis, genetic variations in NOX3 and lifestyle factors with noise-induced hearing loss.
The results suggested that rs6557421 variant in Nox3 and rs3744439 variant in Tbx4 might have potential effect on individual susceptibility to pulmonary hypertension.
Title: Genome-wide association study identifies loci and candidate genes for non-idiopathic pulmonary hypertension in Eastern Chinese Han population.
genetic variants in NOX3 may confer susceptibility to antithyroid drug-induced apoptosis of granulocytes.
Title: Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease.
In lung transplants, our study highlights a donor-recipient interaction of NOX3 and NFE2L2 that increases the risk of PGD.
Title: Oxidant stress regulatory genetic variation in recipients and donors contributes to risk of primary graft dysfunction after lung transplantation.
Reduced matrigel invasion was mediated by reduced ROS levels coinciding with decreased expression of NADPH oxidase 2, 3, 4 and 5 involved in ROS production.
Title: Impaired OXPHOS complex III in breast cancer.
palmitate-induced ROS generation and that NOX3-derived ROS may drive palmitate-induced hepatic insulin resistance through JNK and p38(MAPK) pathways.
Title: The effects of palmitate on hepatic insulin resistance are mediated by NADPH Oxidase 3-derived reactive oxygen species through JNK and p38MAPK pathways.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Down-regulation of NOX3 using siRNA prevented TNF-alpha-induced decrease of cellular glycogen.
Title: NOX3-derived reactive oxygen species promote TNF-alpha-induced reductions in hepatocyte glycogen levels via a JNK pathway.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Roles for p22phox at several distinct points in the maturation and assembly of a functionally competent Nox3 in the plasma membrane.
Title: Critical roles for p22phox in the structural maturation and subcellular targeting of Nox3.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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
Nef	nef	NADPH oxidase is required for HIV-1 Nef-induced ROS production and endothelial apoptosis in human coronary arterial endothelial cells	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
	tat	HIV-1 Tat increases CXCL10 expression in IFN-gamma and TNF-alpha stimulated human astrocytes via NADPH oxidase	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S442 (e-PCR), detects polymorphism
- UniSTS:13679

D6S442 (e-PCR), detects polymorphism
- UniSTS:6103

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heme binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction 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 defense response	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of gravity	IEA Inferred from Electronic Annotation more info
involved_in otolith development	IEA Inferred from Electronic Annotation more info
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info
involved_in temperature homeostasis	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 cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: NADPH oxidase 3

Names: NADPH oxidase catalytic subunit-like 3; gp91phox homolog 3; mitogenic oxidase 2

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

NG_011995.1 RefSeqGene

Range

5065..65536

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015718.3 → NP_056533.1 NADPH oxidase 3

See identical proteins and their annotated locations for NP_056533.1

Status: REVIEWED

Source sequence(s)

AL031773

Consensus CDS

CCDS5250.1

UniProtKB/Swiss-Prot

Q9HBJ9, Q9HBY0

Related

ENSP00000159060.2, ENST00000159060.3

Conserved Domains (2) summary

cd06186
Location:295 → 568

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 ...

pfam01794
Location:60 → 217

Ferric_reduct; Ferric reductase like transmembrane component