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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 between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
NOXA1 (NADPH Oxidase Activator 1) is a Protein Coding gene. Diseases associated with NOXA1 include Lung Mucoepidermoid Carcinoma and Cardiomyopathy, Familial Hypertrophic, 2. Among its related pathways are Signaling by GPCR and RHO GTPases Activate NADPH Oxidases. Gene Ontology (GO) annotations related to this gene include enzyme binding and Rac GTPase binding. An important paralog of this gene is NCF2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16636067 |
GO:0016176 | superoxide-generating NADPH oxidase activator activity | IMP | 16636067 |
GO:0017124 | SH3 domain binding | IPI | 19755710 |
GO:0019899 | enzyme binding | IPI | 16636067 |
GO:0048365 | Rac GTPase binding | IPI | 16636067 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0043020 | NADPH oxidase complex | IDA | 16636067 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by Rho GTPases | ||
2 | RHO GTPases Activate NADPH Oxidases | ||
3 | Signaling by GPCR | ||
4 | G-protein signaling_Rac2 regulation pathway |
G-protein signaling_Rac2 regulation pathway
-
|
|
5 | Integrated Breast Cancer Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006801 | superoxide metabolic process | IMP | 20609497 |
GO:0010310 | regulation of hydrogen peroxide metabolic process | IMP | 16636067 |
GO:0042554 | superoxide anion generation | IBA | 21873635 |
GO:0043085 | positive regulation of catalytic activity | IEA | -- |
GO:0060263 | regulation of respiratory burst | IMP | 16636067 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NOXA1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NOXA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NOXA1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Noxa1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Noxa1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NOXA1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NOXA1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NOXA1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | noxa1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | noxa1 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs773184989 | Not Provided: not provided | 137,433,217(+) | T/TG | FRAMESHIFT_VARIANT | |
rs34155071 | - | p.Pro286Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2675903 | CNV | deletion | 23128226 |
esv2759721 | CNV | loss | 17122850 |
esv3573431 | CNV | loss | 25503493 |
esv3622034 | CNV | gain | 21293372 |
nsv1049808 | CNV | gain | 25217958 |
nsv1075290 | CNV | deletion | 25765185 |
nsv1161918 | CNV | duplication | 26073780 |
nsv524322 | CNV | loss | 19592680 |
nsv6771 | CNV | insertion | 18451855 |
nsv951208 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lung mucoepidermoid carcinoma |
|
|
cardiomyopathy, familial hypertrophic, 2 |
|
|