Human Gene NOX4 (uc010rtv.2) Description and Page Index
Description: Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 3, mRNA. RefSeq Summary (NM_001143836): This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]. Transcript (Including UTRs) Position: hg19 chr11:89,057,522-89,225,387 Size: 167,866 Total Exon Count: 17 Strand: - Coding Region Position: hg19 chr11:89,059,924-89,223,706 Size: 163,783 Coding Exon Count: 16
ID:E9PMY6_HUMAN DESCRIPTION: SubName: Full=NADPH oxidase 4; SIMILARITY: Contains 1 FAD-binding FR-type domain. SIMILARITY: Contains 1 ferric oxidoreductase domain. CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Genetic Association Studies of Complex Diseases and Disorders
Amyotrophic Lateral Sclerosis Aleksey Shatunov et al. Lancet neurology 2010, Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study., Lancet neurology.
We have found strong evidence of a genetic association of two single nucleotide polymorphisms on chromosome 9 with sporadic ALS, in line with findings from previous independent GWAS of ALS and linkage studies of ALS-frontotemporal dementia. Our findings together with these earlier findings suggest that genetic variation at this locus on chromosome 9 causes sporadic ALS and familial ALS-frontotemporal dementia. Resequencing studies and then functional analysis should be done to identify the defective gene.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on E9PMY6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.