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Gene Gene information from NCBI Gene database.
Entrez ID 10811
Gene name NADPH oxidase activator 1
Gene symbol NOXA1
Synonyms (NCBI Gene)
NY-CO-31SDCCAG31p51NOX
Chromosome 9
Chromosome location 9q34.3
Summary This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction be
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21 Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16329988, 16636067, 17126813, 19755710, 20609497, 23957209, 25416956, 31515488, 32296183, 35031518
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IEA
GO:0006801 Process Superoxide metabolic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611255 10668 ENSG00000188747
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86UR1
Protein name NADPH oxidase activator 1 (NOX activator 1) (Antigen NY-CO-31) (NCF2-like protein) (P67phox-like factor) (p51-nox)
Protein function Functions as an activator of NOX1, a superoxide-producing NADPH oxidase. Functions in the production of reactive oxygen species (ROS) which participate in a variety of biological processes including host defense, hormone biosynthesis, oxygen sen
PDB 7CFZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00018 SH3_1 405 → 450 SH3 domain Domain
PF00564 PB1 315 → 395 PB1 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Detected in pancreas, liver, kidney, spleen, prostate, small intestine and colon. {ECO:0000269|PubMed:12716910}.
Sequence
MASLGDLVRAWHLGAQAVDRGDWARALHLFSGVPAPPARLCFNAGCVHLLAGDPEAALRA
FDQAVTKDTCMAVGFFQRGVANFQLARFQEALSDFWLALEQLRGHAAIDYTQLGLRFKLQ
AWEVLHNVASAQCQLGLWTEAASSLREAMSKWPEGSLNGLDSALDQVQRRGSLPPRQVPR
GEVFRPHRWHLKHLEPVDFLGKAKVVASAIPDDQGWGVRPQQPQGPGANHDARSLIMDSP
RAGTHQGPLDAETEVGADRCTSTAYQEQRPQVEQVGKQAPLSPGLPAMGGPGPGPCEDPA
GAGGAGAGGSEPLVTVTVQCAFTVALRARRGADLSSLRALLGQALPHQAQLGQLSYLAPG
EDGHWVPIPEEESLQRAWQDAAACPRGLQLQCRGA
GGRPVLYQVVAQHSYSAQGPEDLGF
RQGDTVDVLCEVDQAWLEGHCDGRIGIFPK
CFVVPAGPRMSGAPGRLPRSQQGDQP
Sequence length 476
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
RHO GTPases Activate NADPH Oxidases
WNT5:FZD7-mediated leishmania damping
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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 Reference Evidence Score
Cervical cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (8)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 18037128
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 20083677, 30576919
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 20083677, 30576919
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 23551967 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 25137373 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 20943948, 40084254 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 19431059
★★★★★
★☆☆☆☆
Found in Text Mining only
Vascular Diseases Vascular Diseases BEFREE 20083677
★★★★★
★☆☆☆☆
Found in Text Mining only