Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	27035
Gene name	NADPH oxidase 1
Gene symbol	NOX1
Synonyms (NCBI Gene)	GP91-2MOX1NOH-1NOH-1LNOH1
Chromosome	X
Chromosome location	Xq22.1
Summary	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 obs

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SNP ID	Visualize variation	Clinical significance	Consequence
rs142303829	G>A	Likely-benign, likely-pathogenic	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments
MIRT2284051	hsa-miR-3126-5p	CLIP-seq
MIRT2284052	hsa-miR-3151	CLIP-seq
MIRT2284053	hsa-miR-3689a-3p	CLIP-seq
MIRT2284054	hsa-miR-3689c	CLIP-seq
MIRT2284055	hsa-miR-4447	CLIP-seq
MIRT2284056	hsa-miR-4472	CLIP-seq
MIRT2284057	hsa-miR-4651	CLIP-seq
MIRT2284058	hsa-miR-4728-5p	CLIP-seq
MIRT2284059	hsa-miR-491-5p	CLIP-seq
MIRT2284060	hsa-miR-608	CLIP-seq
MIRT2391665	hsa-miR-106a	CLIP-seq
MIRT2391666	hsa-miR-106b	CLIP-seq
MIRT2391667	hsa-miR-134	CLIP-seq
MIRT2391668	hsa-miR-17	CLIP-seq
MIRT2391669	hsa-miR-20a	CLIP-seq
MIRT2391670	hsa-miR-20b	CLIP-seq
MIRT2391671	hsa-miR-3118	CLIP-seq
MIRT2391672	hsa-miR-3609	CLIP-seq
MIRT2391673	hsa-miR-371-5p	CLIP-seq
MIRT2391674	hsa-miR-4796-3p	CLIP-seq
MIRT2391675	hsa-miR-519d	CLIP-seq
MIRT2391676	hsa-miR-548ah	CLIP-seq
MIRT2391677	hsa-miR-767-3p	CLIP-seq
MIRT2391678	hsa-miR-93	CLIP-seq
MIRT2686445	hsa-miR-4714-5p	CLIP-seq
MIRT2686446	hsa-miR-568	CLIP-seq
MIRT2686447	hsa-miR-618	CLIP-seq

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Transcription factor	Regulation	Reference
HIPK2	Repression	20171273
STAT1	Unknown	19834108
STAT3	Unknown	19834108
STAT4	Unknown	19834108

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0001525	Process	Angiogenesis	IMP	11805326
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IEA
GO:0005515	Function	Protein binding	IPI	16329988, 16636067, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	17673675
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	14617635
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006739	Process	NADP+ metabolic process	IC	10485709
GO:0006952	Process	Defense response	IBA
GO:0006954	Process	Inflammatory response	TAS	18347018
GO:0007165	Process	Signal transduction	TAS	17673675
GO:0007254	Process	JNK cascade	IEA
GO:0008217	Process	Regulation of blood pressure	TAS	18347018
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	10485709
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	IEA
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IEP	11805326
GO:0016020	Component	Membrane	IEA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IBA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IBA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IC	10485709
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IDA	14617635, 16329988
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IEA
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IMP	18023288
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	TAS	10485709, 18347018
GO:0016477	Process	Cell migration	IMP	18023288
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031267	Function	Small GTPase binding	IPI	16636067
GO:0042554	Process	Superoxide anion generation	IBA
GO:0042554	Process	Superoxide anion generation	IDA	10485709
GO:0042554	Process	Superoxide anion generation	IEA
GO:0042554	Process	Superoxide anion generation	IMP	18023288
GO:0042743	Process	Hydrogen peroxide metabolic process	IDA	11331784
GO:0042995	Component	Cell projection	IEA
GO:0043020	Component	NADPH oxidase complex	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	16636067
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0045726	Process	Positive regulation of integrin biosynthetic process	IMP	18023288
GO:0045730	Process	Respiratory burst	TAS	16636067
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS	10485709
GO:0050661	Function	NADP binding	IC	10485709
GO:0050664	Function	Oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071455	Process	Cellular response to hyperoxia	IEA
GO:0072592	Process	Oxygen metabolic process	IEA
GO:0106292	Function	Superoxide-generating NADPH oxidase activity	IEA
GO:1902177	Process	Positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
300225	7889	ENSG00000007952

Q9Y5S8

Protein name

NADPH oxidase 1 (NOX-1) (EC 1.6.3.-) (Mitogenic oxidase 1) (MOX-1) (NADH/NADPH mitogenic oxidase subunit P65-MOX) (NOH-1)

Protein function

NADPH oxidase that catalyzes the generation of superoxide from molecular oxygen utilizing NADPH as an electron donor. ; FUNCTION

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01794	Ferric_reduct	54 → 219	Ferric reductase like transmembrane component	Family
PF08022	FAD_binding_8	292 → 389	FAD-binding domain	Domain
PF08030	NAD_binding_6	395 → 545	Ferric reductase NAD binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: [Isoform NOH-1L]: Detected in colon, uterus, prostate, and colon carcinoma, but not in peripheral blood leukocytes. {ECO:0000269|PubMed:10485709, ECO:0000269|PubMed:10615049}.

Sequence

MGNWVVNHWFSVLFLVVWLGLNVFLFVDAFLKYEKADKYYYTRKILGSTLACARASALCL
NFNSTLILLPVCRNLLSFLRGTCSFCSRTLRKQLDHNLTFHKLVAYMICLHTAIHIIAHL
FNFDCYSRSRQATDGSLASILSSLSHDEKKGGSWLNPIQSRNTTVEYVTFTSIAGLTGVI
MTIALILMVTSATEFIRRSYFEVFWYTHHLFIFYILGLGIHGIGGIVRGQTEESMNESHP
RKCAESFEMWDDRDSHCRRPKFEGHPPESWKWILAPVILYICERILRFYRSQQKVVITKV
VMHPSKVLELQMNKRGFSMEVGQYIFVNCPSISLLEWHPFTLTSAPEEDFFSIHIRAAGD
WTENLIRAFEQQYSPIPRIEVDGPFGTASEDVFQYEVAVLVGAGIGVTPFASILKSIWYK
FQCADHNLKTKKIYFYWICRETGAFSWFNNLLTSLEQEMEELGKVGFLNYRLFLTGWDSN
IVGHAALNFDKATDIVTGLKQKTSFGRPMWDNEFSTIATSHPKSVVGVFLCGPRTLAKSL
RKCCHRYSSLDPRKVQFYFNKENF

Sequence length

564

Interactions

View interactions

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs149219547	RCV005933296
Cholangiocarcinoma	Benign	rs35404864	RCV005910673
Colon adenocarcinoma	Benign	rs35404864	RCV005910672
NOX1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs201776721, rs149219547, rs140908448, rs35404864, rs36092450, rs767898415	RCV003942258 RCV003937393 RCV003978909 RCV003936187 RCV003975660 RCV003975741
Very early onset inflammatory bowel disease	Benign; Likely benign	rs142303829	RCV000736010

Show/Hide Text Mining Associations (53)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Lung Injury	Associate	33757467
Adenoma Islet Cell	Stimulate	31492561
Adenomatous Polyps	Associate	32428030
Adrenocortical Carcinoma	Associate	35500219
Adrenoleukodystrophy	Associate	25252997
Alzheimer Disease	Stimulate	35612774
Asthma	Associate	32512817
Breast Neoplasms	Associate	39219290
Carcinoma Hepatocellular	Associate	27282266, 28894215, 35418176
Carcinoma Large Cell	Associate	32428030
Carcinoma Non Small Cell Lung	Associate	25592377, 30273693
Carcinoma Squamous Cell	Associate	21167810
Cockayne Syndrome	Associate	30009828
Colonic Neoplasms	Associate	30760703, 32428030
Colorectal Neoplasms	Associate	20943948, 22305747, 23071493, 26116564, 27874952, 28498822, 32428030, 34073365, 37224811, 37516013
Complex Regional Pain Syndromes	Associate	31217010
COVID 19	Associate	34341659
Death	Associate	34341659
Endotoxemia	Associate	37820403
Epiretinal Membrane	Associate	36567907
Essential Hypertension	Associate	26149214
Glucosephosphate Dehydrogenase Deficiency	Associate	28522681
Granulomatous Disease Chronic	Associate	25252997
Hepatoblastoma	Associate	25806803
Hereditary Breast and Ovarian Cancer Syndrome	Associate	16294028
HIV Infections	Stimulate	28314381
Hypoxia	Stimulate	28522681
Immune System Diseases	Associate	28314381
Inflammation	Stimulate	28498822
Inflammatory Bowel Disease 25 Autosomal Recessive	Associate	30709874
Inflammatory Bowel Diseases	Associate	30709874, 32064493, 37820403
Leukemia T Cell	Associate	33022753
Lung Diseases	Associate	28522681
Lung Neoplasms	Associate	25592377
Marfan Syndrome	Associate	37445606
Multiple Sclerosis	Associate	32655763
Myelodysplastic Syndromes	Associate	24719867
Nasopharyngeal Carcinoma	Associate	22013061
Neoplasm Metastasis	Associate	27874952, 28894215
Neoplasms	Associate	16083877, 16294028, 19732064, 22158615, 25423035, 25806803, 28498822, 28894215, 32428030
Neoplasms	Inhibit	34971930
Ovarian Diseases	Stimulate	16294028
Pancreatic Neoplasms	Associate	36061308
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	33022753
Prostatitis	Associate	16083877
Pulmonary Arterial Hypertension	Associate	28522681
Pulmonary Disease Chronic Obstructive	Associate	20395558
Respiratory Tract Infections	Associate	25592377
Skin Neoplasms	Associate	21167810
Tuberculosis Multidrug Resistant	Associate	16083877
Urinary Bladder Neoplasms	Associate	20473523, 21252614
Venous Insufficiency	Stimulate	32141705
Xeroderma Pigmentosum	Inhibit	21167810

NOX1 (NADPH oxidase 1)