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. [provided by RefSeq, Jun 2012]
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 potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity.
Subcellular Location:
Cell membrane. Isoform 3 associates with the plasma membrane in a lipid-dependent manner.Target information above from: UniProt accession Q8NFA2 The UniProt Consortium
The Universal Protein Resource (UniProt) in 2010
Nucleic Acids Res. 38:D142-D148 (2010) .
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.
Similarity:
Contains 1 PX (phox homology) domain.
Contains 2 SH3 domains.
SWISS:
Q8NFA2
Gene ID:
14856
Database links:
Entrez Gene: 14856 Human
Entrez Gene: 71893 Mouse
Entrez Gene: 302976 Rat
Omim: 611256 Human
SwissProt: Q8NFA2 Human
SwissProt: Q8VCM2 Mouse
Unigene: 191762 Human
Unigene: 390971 Mouse
Unigene: 137764 Rat
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