NOX1

NADPH oxidase 1

Basic information

Region (hg38): X:100843324-100874359

Links

ENSG00000007952 ∙ NCBI:27035 ∙ OMIM:300225 ∙ HGNC:7889 ∙ Uniprot:Q9Y5S8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NOX1 gene.

• not_specified (60 variants)
• not_provided (16 variants)
• NOX1-related_disorder (7 variants)
• Very_early_onset_inflammatory_bowel_disease (1 variants)
• Neuroferritinopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOX1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007052.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			54	13	2	69
nonsense				1		1
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	57	16	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NOX1	protein_coding	protein_coding	ENST00000372966	13	31022

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.66e-8	0.749	125658	46	40	125744	0.000342

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0507	210	208	1.01	0.0000157	3709
Missense in Polyphen		74	80.507	0.91917		1613
Synonymous	0.993	62	72.8	0.852	0.00000514	1051
Loss of Function	1.34	14	20.6	0.680	0.00000159	343

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000337	0.000322
Ashkenazi Jewish	0.00	0.00
East Asian	0.000652	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000272	0.000193
Middle Eastern	0.000652	0.000489
South Asian	0.00227	0.00137
Other	0.00111	0.000815

dbNSFP

Source: dbNSFP

• Function: 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.
• Pathway: AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);TNF alpha Signaling Pathway;Vitamin D Receptor Pathway;Signal Transduction;RHO GTPases Activate NADPH Oxidases;RHO GTPase Effectors;Signaling by Rho GTPases;RAC1 signaling pathway (Consensus)

Recessive Scores

• pRec: 0.282

Intolerance Scores

• loftool: 0.134
• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.16

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.231

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.163

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Nox1
• Phenotype: immune system phenotype; digestive/alimentary phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype

Gene ontology

• Biological process: angiogenesis;regulation of systemic arterial blood pressure by renin-angiotensin;NADP metabolic process;defense response;inflammatory response;signal transduction;regulation of blood pressure;positive regulation of cell population proliferation;positive regulation of vascular endothelial growth factor production;cell migration;extracellular matrix organization;ion transmembrane transport;regulation of ion transmembrane transport;superoxide anion generation;hydrogen peroxide metabolic process;positive regulation of integrin biosynthetic process;respiratory burst;positive regulation of JNK cascade;positive regulation of smooth muscle cell proliferation;intracellular pH elevation;oxidation-reduction process;cellular response to hyperoxia;oxygen metabolic process;positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway;cellular stress response to acidic pH
• Cellular component: early endosome;plasma membrane;cell junction;NADPH oxidase complex;invadopodium membrane
• Molecular function: voltage-gated ion channel activity;protein binding;superoxide-generating NADPH oxidase activity;metal ion binding;Rac GTPase binding;NADP binding