This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] See more...

Aliases for NOX1 Gene

Aliases for NOX1 Gene

  • NADPH Oxidase 1 2 3 4 5
  • Mitogenic Oxidase (Pyridine Nucleotide-Dependent Superoxide-Generating) 2 3
  • NADH/NADPH Mitogenic Oxidase Subunit P65-MOX 3 4
  • NADPH Oxidase Homolog-1 2 3
  • Mitogenic Oxidase 1 3 4
  • NOH-1 3 4
  • MOX1 3 4
  • NOH1 3 4
  • NADPH Oxidase 1 Variant NOH-1L 2
  • EC 1.-.-.- 4
  • EC 1.6.3 52
  • GP91-2 3
  • MOX-1 4
  • NOX-1 4

External Ids for NOX1 Gene

Previous GeneCards Identifiers for NOX1 Gene

  • GC0XM095379
  • GC0XM097059
  • GC0XM098134
  • GC0XM098870
  • GC0XM099904
  • GC0XM100098
  • GC0XM089897

Summaries for NOX1 Gene

Entrez Gene Summary for NOX1 Gene

  • This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

GeneCards Summary for NOX1 Gene

NOX1 (NADPH Oxidase 1) is a Protein Coding gene. Diseases associated with NOX1 include Chronic Granulomatous Disease and Inflammatory Bowel Disease. Among its related pathways are Osteoclast differentiation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and Rac GTPase binding. An important paralog of this gene is CYBB.

UniProtKB/Swiss-Prot Summary for NOX1 Gene

  • NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain.

Tocris Summary for NOX1 Gene

  • Nicotinamide adenine dinucleotide phosphate (NADPH) oxidases are multi-subunit enzyme complexes that transfer electrons across biological membranes and catalyze the production of reactive oxygen species (ROS).

Gene Wiki entry for NOX1 Gene

Additional gene information for NOX1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOX1 Gene

Genomics for NOX1 Gene

GeneHancer (GH) Regulatory Elements for NOX1 Gene

Promoters and enhancers for NOX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ100873 Promoter/Enhancer 0.7 EPDnew ENCODE 500.7 +0.0 2 1.1 CEBPB CEBPA NOX1 HNRNPA1P26 RF00017-8582
GH0XJ100829 Enhancer 0.8 Ensembl ENCODE 12.2 +44.3 44258 1.4 RELA MEF2C POLR2A SRF MEF2B EBF1 CTCF JUNB RAD21 MTA3 SYTL4 NOX1 lnc-ARL13A-4 ENSG00000202231 CSTF2 NONHSAG054957.2 RF00017-8582
GH0XJ100883 Enhancer 0.6 Ensembl 10.4 -9.7 -9741 1 TCF12 TCF7 CREM ETV4 NR2F6 SOX5 ELF3 FOXA2 ETV5 EP300 piR-61945-540 NOX1 HNRNPA1P27 RF00017-8582
GH0XJ100450 Enhancer 0.6 Ensembl 4.7 +424.1 424058 1 GABPB1 NR2F2 FOXP2 TAF1 RAD21 TFAP4 POLR2A RXRA SP1 CTCF SRPX2 NOX1 piR-52294-156 PCDH19
GH0XJ100904 Enhancer 0.2 Ensembl 12.5 -30.7 -30742 1 lnc-ARL13A-3 XKRX NOX1 lnc-NOX1-2 RF00017-8582
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOX1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOX1

Top Transcription factor binding sites by QIAGEN in the NOX1 gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for NOX1 Gene

Genomic Locations for NOX1 Gene
chrX:100,843,324-100,874,359
(GRCh38/hg38)
Size:
31,036 bases
Orientation:
Minus strand
chrX:100,098,313-100,129,334
(GRCh37/hg19)
Size:
31,022 bases
Orientation:
Minus strand

Genomic View for NOX1 Gene

Genes around NOX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOX1 Gene

Proteins for NOX1 Gene

  • Protein details for NOX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5S8-NOX1_HUMAN
    Recommended name:
    NADPH oxidase 1
    Protein Accession:
    Q9Y5S8
    Secondary Accessions:
    • A8K836
    • O95691
    • Q2PP02

    Protein attributes for NOX1 Gene

    Size:
    564 amino acids
    Molecular mass:
    64871 Da
    Cofactor:
    Name=NADP(+); Xref=ChEBI:CHEBI:58349;
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • NOX1, NOXA1, NOXO1, RAC1 and CYBA forms a functional multimeric complex supporting reactive oxygen species (ROS) production. Interacts with NOXA1 and NOXO1.

    Alternative splice isoforms for NOX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOX1 Gene

Selected DME Specific Peptides for NOX1 Gene

Q9Y5S8:
  • LEWHPFTLTSAP
  • ARASALCLNFN
  • GIGVTPF

Post-translational modifications for NOX1 Gene

  • Glycosylation at Asn162 and Asn236
  • Modification sites at PhosphoSitePlus

Other Protein References for NOX1 Gene

Domains & Families for NOX1 Gene

Gene Families for NOX1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for NOX1 Gene

Blocks:
  • Cytochrome B-245 heavy chain signature
  • Ferric reductase-like transmembrane component, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NOX1 Gene

GenScript: Design optimal peptide antigens:
  • NOH-1 (NOX1_HUMAN)
  • NADPH oxidase 1 (Q5H9D5_HUMAN)
  • Nox1 NAD(P)H-oxidase subunit (Q8TCT3_HUMAN)
genes like me logo Genes that share domains with NOX1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NOX1 Gene

Function for NOX1 Gene

Molecular function for NOX1 Gene

UniProtKB/Swiss-Prot Function:
NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain.
UniProtKB/Swiss-Prot EnzymeRegulation:
The oxidase activity is potentiated by NOXA1 and NOXO1.

Enzyme Numbers (IUBMB) for NOX1 Gene

Gene Ontology (GO) - Molecular Function for NOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005515 protein binding IPI 16636067
GO:0016175 superoxide-generating NADPH oxidase activity TAS,IEA 10485709
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NOX1: view
genes like me logo Genes that share phenotypes with NOX1: view

Animal Models for NOX1 Gene

MGI Knock Outs for NOX1:

Animal Model Products

Clone Products

  • Addgene plasmids for NOX1

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for NOX1 Gene

Localization for NOX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOX1 Gene

Cell projection, invadopodium membrane; Multi-pass membrane protein. Cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOX1 gene
Compartment Confidence
plasma membrane 5
endosome 4
mitochondrion 3
cytosol 3
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 17673675
GO:0005886 plasma membrane IBA,TAS --
genes like me logo Genes that share ontologies with NOX1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NOX1 Gene

Pathways & Interactions for NOX1 Gene

genes like me logo Genes that share pathways with NOX1: view

Pathways by source for NOX1 Gene

3 Qiagen pathways for NOX1 Gene
  • Antioxidant Action of Vitamin-C
  • Rac1 Pathway
  • Transendothelial Migration of Leukocytes

Gene Ontology (GO) - Biological Process for NOX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IMP 11805326
GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin IEA --
GO:0006739 NADP metabolic process IC 10485709
GO:0006811 ion transport IEA --
GO:0006952 defense response IBA 21873635
genes like me logo Genes that share ontologies with NOX1: view

No data available for SIGNOR curated interactions for NOX1 Gene

Drugs & Compounds for NOX1 Gene

(10) Drugs for NOX1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma Target, agonist, activator 0
FAD Approved Pharma 0
NADP Experimental Pharma 0
Apocynin Investigational Pharma NADPH-oxidase inhibitor 0
ML 171 Pharma Selective NADPH oxidase 1 (NOX1) inhibitor 0

(8) Additional Compounds for NOX1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 2-KDN
  • 2-keto-3-Deoxy-D-glycero-D-galacto-NONONate
  • 2-keto-3-Deoxy-D-glycero-D-galacto-NONONic acid
  • 2-oxo-3-Deoxy-D-glycero-galactononulosonate
  • 2-oxo-3-Deoxy-D-glycero-galactononulosonic acid
22594-61-2
NoxA1ds
1435893-78-9

(3) Tocris Compounds for NOX1 Gene

Compound Action Cas Number
Apocynin NADPH-oxidase inhibitor 498-02-2
ML 171 Selective NADPH oxidase 1 (NOX1) inhibitor 6631-94-3
NoxA1ds Potent and selective NADPH oxidase 1 (NOX1) inhibitor 1435893-78-9

(3) ApexBio Compounds for NOX1 Gene

Compound Action Cas Number
Apocynin 498-02-2
GKT137831 dual NADPH oxidase Nox1/Nox4 inhibitor 1218942-37-0
ML 171 6631-94-3
genes like me logo Genes that share compounds with NOX1: view

Drug Products

Transcripts for NOX1 Gene

mRNA/cDNA for NOX1 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for NOX1

Alternative Splicing Database (ASD) splice patterns (SP) for NOX1 Gene

No ASD Table

Relevant External Links for NOX1 Gene

GeneLoc Exon Structure for
NOX1

Expression for NOX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NOX1 Gene

mRNA differential expression in normal tissues according to GTEx for NOX1 Gene

This gene is overexpressed in Colon - Transverse (x39.7).

Protein differential expression in normal tissues from HIPED for NOX1 Gene

This gene is overexpressed in Saliva (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NOX1 Gene



Protein tissue co-expression partners for NOX1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOX1

SOURCE GeneReport for Unigene cluster for NOX1 Gene:

Hs.592227

mRNA Expression by UniProt/SwissProt for NOX1 Gene:

Q9Y5S8-NOX1_HUMAN
Tissue specificity: NOH-1L is detected in colon, uterus, prostate, and colon carcinoma, but not in peripheral blood leukocytes. NOH-1S is detected only in colon and colon carcinoma cells.

Evidence on tissue expression from TISSUES for NOX1 Gene

  • Intestine(4.8)
  • Blood(2.3)
  • Muscle(2.3)
  • Kidney(2.2)
  • Heart(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with NOX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOX1 Gene

Orthologs for NOX1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NOX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOX1 30
  • 99.12 (n)
dog
(Canis familiaris)
Mammalia NOX1 31 30
  • 88.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NOX1 31 30
  • 88.83 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nox1 17 31 30
  • 86.26 (n)
rat
(Rattus norvegicus)
Mammalia Nox1 30
  • 85.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 1 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NOX1 31 30
  • 67.81 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nox1 30
  • 67.38 (n)
Str.12356 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24337 30
zebrafish
(Danio rerio)
Actinopterygii LOC100538315 30
  • 62.56 (n)
nox1 31 31
  • 59 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons RBOH F 30
  • 48.85 (n)
rice
(Oryza sativa)
Liliopsida Os01g0734200 30
  • 50.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToMany
Species where no ortholog for NOX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NOX1 Gene

ENSEMBL:
Gene Tree for NOX1 (if available)
TreeFam:
Gene Tree for NOX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOX1: view image

Paralogs for NOX1 Gene

Paralogs for NOX1 Gene

(3) SIMAP similar genes for NOX1 Gene using alignment to 5 proteins:

  • NOX1_HUMAN
  • A6NGA6_HUMAN
  • H0Y581_HUMAN
  • Q5H9D4_HUMAN
  • Q8TCT3_HUMAN
genes like me logo Genes that share paralogs with NOX1: view

Variants for NOX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOX1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
714967 Likely Benign: not provided 100,850,380(-) T/C MISSENSE_VARIANT
720642 Benign: not provided 100,862,210(-) G/A SYNONYMOUS_VARIANT
727642 Likely Benign: not provided 100,849,790(-) G/C MISSENSE_VARIANT
748999 Likely Benign: not provided 100,850,218(-) G/A NONSENSE
791381 Benign: not provided 100,850,151(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NOX1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NOX1 Gene

Variant ID Type Subtype PubMed ID
esv1247987 CNV insertion 17803354
esv2740355 CNV deletion 23290073
nsv7011 CNV insertion 18451855

Variation tolerance for NOX1 Gene

Residual Variation Intolerance Score: 89.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOX1 Gene

Human Gene Mutation Database (HGMD)
NOX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOX1 Gene

Disorders for NOX1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NOX1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chronic granulomatous disease
  • granulomatous disease, chronic, x-linked
inflammatory bowel disease
  • inflammatory bowel diseases
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
  • cgd, autosomal recessive cytochrome b-negative
vascular disease
  • vascular tissue disease
ileocolitis
  • iieocolitis
- elite association - COSMIC cancer census association via MalaCards
Search NOX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NOX1_HUMAN
  • Note=Defects in NOX1 may play a role in the pathogenesis of very early onset inflammatory bowel disease (VEOIBD), a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology diagnosed before 6 years of age. VEOIBD is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but the phenotype of children with onset of Crohn disease occurring younger than the age of 10 is predominantly colonic, with a lower risk of ileal disease. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269 PubMed:26301257}.

Additional Disease Information for NOX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NOX1: view

No data available for Genatlas for NOX1 Gene

Publications for NOX1 Gene

  1. A mammalian H+ channel generated through alternative splicing of the NADPH oxidase homolog NOH-1. (PMID: 10615049) Bánfi B … Krause KH (Science (New York, N.Y.) 2000) 2 3 4 23 54
  2. Novel p47(phox)-related organizers regulate localized NADPH oxidase 1 (Nox1) activity. (PMID: 19755710) Gianni D … Bokoch GM (Science signaling 2009) 3 4 23 54
  3. Molecular interaction of NADPH oxidase 1 with betaPix and Nox Organizer 1. (PMID: 16329988) Park HS … Bae YS (Biochemical and biophysical research communications 2006) 3 4 23 54
  4. Cell transformation by the superoxide-generating oxidase Mox1. (PMID: 10485709) Suh YA … Lambeth JD (Nature 1999) 2 3 4 54
  5. N-Linked glycosylation of the superoxide-producing NADPH oxidase Nox1. (PMID: 24365146) Miyano K … Sumimoto H (Biochemical and biophysical research communications 2014) 3 4 54

Products for NOX1 Gene

  • Addgene plasmids for NOX1

Sources for NOX1 Gene