Description: Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA. RefSeq Summary (NM_000941): This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008]. CCDS Note: This CCDS representation uses the 5'-most in-frame start codon, which is conserved in higher primate species. This starting position is most commonly referred to in the literature, and the numbering system used to describe disease-associated mutations is based on this protein start. This includes data in the P450 oxidoreductase (POR) allele nomenclature locus-specific database, and the Human Gene Mutation Database (HGMD). This start codon is restricted to higher primate species, and it has a weak Kozak signal. However, it should be noted that an alternative downstream start codon, which has a strong Kozak signal and is much more widely conserved, is also present. The use of this downstream start codon would result in a protein that is 3 aa shorter at the N-terminus. Protein sequencing in PMID:2513880 indicates that this is the preferred start codon in vivo. It is therefore possible that the ribosome will initiate at the upstream start codon only a small fraction of the time (if at all), while leaky scanning will allow the downstream start codon to be used predominantly. Transcript (Including UTRs) Position: hg19 chr7:75,544,420-75,616,173 Size: 71,754 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr7:75,583,311-75,615,799 Size: 32,489 Coding Exon Count: 15
ID:Q59ED7_HUMAN DESCRIPTION: RecName: Full=NADPH--cytochrome P450 reductase; EC=1.6.2.4; Flags: Fragment; FUNCTION: This enzyme is required for electron transfer from NADP to cytochrome P450 (By similarity). CATALYTIC ACTIVITY: NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane (By similarity). SIMILARITY: In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): POR CDC HuGE Published Literature: POR Positive Disease Associations: breast cancer Related Studies:
breast cancer Haiman, C. A. et al. 2007, A variant in the cytochrome p450 oxidoreductase gene is associated with breast cancer risk in african americans, Cancer Res 2007 67(8) 3565-8.
[PubMed 17440066]
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 Q59ED7
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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.