NOX1 (NADPH oxidase 1)

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
SNPs SNP information provided by dbSNP.
1
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs142303829 G>A Likely-benign, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
27
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (27)
miRTarBase ID miRNA Experiments Reference
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
HIPK2 Repression 20171273
STAT1 Unknown 19834108
STAT3 Unknown 19834108
STAT4 Unknown 19834108
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
Gene SNPs Transcription factors Other IDs Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
300225 7889 ENSG00000007952
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 564
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Gene SNPs Transcription factors Other IDs Associated diseases
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)
Show/Hide Unknown Diseases (10)
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.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (143)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma LHGDN 15797632
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18037128, 20347035
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 29781053
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 20347035
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 15797632
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 18398843
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 35500219 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy Pubtator 25252997 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 19671250
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35612774 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only