NOX1 (NADPH oxidase 1)

Gene

• Entrez ID: 27035
• Gene name: NADPH oxidase 1
• Gene symbol: NOX1
• Synonyms: GP91-2, MOX1, NOH-1, NOH1
• 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 observed for this gene. [provided by RefSeq, Nov 2012]

SNPs

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

Transcription factors

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IMP	11805326
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IEA
GO:0005244	Function	Voltage-gated ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16636067, 32296183
GO:0005769	Component	Early endosome	IDA	17673675
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006739	Process	NADP metabolic process	IC	10485709
GO:0006952	Process	Defense response	IBA	21873635
GO:0006954	Process	Inflammatory response	TAS	18347018
GO:0007165	Process	Signal transduction	TAS	17673675
GO:0008217	Process	Regulation of blood pressure	TAS	18347018
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	10485709
GO:0010575	Process	Positive regulation of vascular endothelial growth factor production	IEP	11805326
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IBA	21873635
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IC	10485709
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:0030054	Component	Cell junction	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031267	Function	Small GTPase binding	IPI	16636067
GO:0034220	Process	Ion transmembrane transport	IEA
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0042554	Process	Superoxide anion generation	IBA	21873635
GO:0042554	Process	Superoxide anion generation	IDA	10485709
GO:0042554	Process	Superoxide anion generation	IMP	18023288
GO:0042743	Process	Hydrogen peroxide metabolic process	IDA	11331784
GO:0043020	Component	NADPH oxidase complex	IBA	21873635
GO:0043020	Component	NADPH oxidase complex	IDA	16636067
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:0051454	Process	Intracellular pH elevation	IDA	10615049
GO:0071455	Process	Cellular response to hyperoxia	IEA
GO:0072592	Process	Oxygen metabolic process	IEA
GO:1902177	Process	Positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1990451	Process	Cellular stress response to acidic pH	IDA	10615049

Other IDs

• MIM: 300225
• HGNC: 7889
• e!Ensembl: ENSG00000007952

Protein

• UniProt ID: Q9Y5S8
• Protein name: NADPH oxidase 1 (NOX-1) (EC 1.-.-.-) (Mitogenic oxidase 1) (MOX-1) (NADH/NADPH mitogenic oxidase subunit P65-MOX) (NOH-1)
• Protein 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.
• 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

• Sequence:

  MGNWVVNHWFSVLFLVVWLGLNVFLFVDAFLKYEKADKYYYTRKILGSTLACARASALCL
  NFNSTLILLPVCRNLLSFLRGTCSFCSRTLRKQLDHNLTFHKLVAYMICLHTAIHIIAHL
  FNFDCYSRSRQATDGSLASILSSLSHDEKKGGSWLNPIQSRNTTVEYVTFTSIAGLTGVI
  MTIALILMVTSATEFIRRSYFEVFWYTHHLFIFYILGLGIHGIGGIVRGQTEESMNESHP
  RKCAESFEMWDDRDSHCRRPKFEGHPPESWKWILAPVILYICERILRFYRSQQKVVITKV
  VMHPSKVLELQMNKRGFSMEVGQYIFVNCPSISLLEWHPFTLTSAPEEDFFSIHIRAAGD
  WTENLIRAFEQQYSPIPRIEVDGPFGTASEDVFQYEVAVLVGAGIGVTPFASILKSIWYK
  FQCADHNLKTKKIYFYWICRETGAFSWFNNLLTSLEQEMEELGKVGFLNYRLFLTGWDSN
  IVGHAALNFDKATDIVTGLKQKTSFGRPMWDNEFSTIATSHPKSVVGVFLCGPRTLAKSL
  RKCCHRYSSLDPRKVQFYFNKENF

• Sequence length: 564