Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	124056
Gene name	NADPH oxidase organizer 1
Gene symbol	NOXO1
Synonyms (NCBI Gene)	P41NOXP41NOXAP41NOXBP41NOXCSH3PXD5SNX28
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [pro

miRTarBase ID	miRNA	Experiments	Reference
MIRT024910	hsa-miR-215-5p	Microarray	19074876
MIRT026699	hsa-miR-192-5p	Microarray	19074876

18 Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16460309, 16636067, 17126813, 23957209, 35031518
GO:0005543	Function	Phospholipid binding	TAS	16636067
GO:0005737	Component	Cytoplasm	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0010310	Process	Regulation of hydrogen peroxide metabolic process	TAS	16636067
GO:0016020	Component	Membrane	IEA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IBA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IEA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	TAS	16636067
GO:0019899	Function	Enzyme binding	IPI	16636067
GO:0022617	Process	Extracellular matrix disassembly	IMP	19755710
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0042554	Process	Superoxide anion generation	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	16636067
GO:0060263	Process	Regulation of respiratory burst	TAS	16636067

MIM	HGNC	e!Ensembl
611256	19404	ENSG00000196408

Q8NFA2

Protein name

NADPH oxidase organizer 1 (NADPH oxidase regulatory protein) (Nox organizer 1) (Nox-organizing protein 1) (SH3 and PX domain-containing protein 5)

Protein function

Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more pot

PDB

2L73

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14604	SH3_9	244 → 292	Variant SH3 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis, small and large intestines, liver, kidney and pancreas. Isoform 3 is mainly expressed in colon. Isoform 1 is preferentially expressed in testis. {ECO:0000269|PubMed:12657628, ECO:0000269|PubMed:15326186, ECO:000026

Sequence

MAGPRYPVSVQGAALVQIKRLQTFAFSVRWSDGSDTFVRRSWDEFRQLKKTLKETFPVEA
GLLRRSDRVLPKLLGQASLDAPLLGRVGRTSRGLARLQLLETYSRRLLATAERVARSPTI
TGFFAPQPLDLEPALPPGSRVILPTPEEQPLSRAAGRLSIHSLEAQSLRCLQPFCTQDTR
DRPFQAQAQESLDVLLRHPSGWWLVENEDRQTAWFPAPYLEEAAPGQGREGGPSLGSSGP
QFCASRAYESSRADELSVPAGARVRVLETSDRGWWLCRYGDRAGLLPAVLLRPEGLGALL
SGTGFRGGDDPAGEARGFPEPSQATAPPPTVPTRPSPGAIQSRCCTVTRRALERRPRRQG
RPRGCVDSVPHPTTEQ

Sequence length

376

Interactions

View interactions

Reactome Pathway
RHO GTPases Activate NADPH Oxidases
WNT5:FZD7-mediated leishmania damping

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (12)
Adenocarcinoma	Adenocarcinoma	BEFREE	18037128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18037128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	BEFREE	23763294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29463257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26781991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28944893, 29195137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28944893, 29195137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	30700829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24520084	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29463257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26781991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23975421, 30700829		★★★★★ ★☆☆☆☆ Found in Text Mining only

NOXO1 (NADPH oxidase organizer 1)

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