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MGP002371

UniProt Annotations

Entry Information
Gene NameP450 (cytochrome) oxidoreductase
Protein EntryNCPR_HUMAN
UniProt IDP16435
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityNADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692;
CofactorName=FMN; Xref=ChEBI:CHEBI:58210;
DiseaseAntley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. {ECO:0000269|PubMed:14758361, ECO:0000269|PubMed:15264278, ECO:0000269|PubMed:15483095}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseDisordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]: A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. {ECO:0000269|PubMed:14758361, ECO:0000269|PubMed:15220035}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThis enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5.
InteractionP00181:CYP2C2 (xeno); NbExp=4; IntAct=EBI-726554, EBI-4320576; O00264:PGRMC1; NbExp=5; IntAct=EBI-726554, EBI-1045534;
Sequence CautionSequence=AAH34277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityContains 1 FAD-binding FR-type domain. {ECO:0000255|PROSITE-ProRule:PRU00716}.
SimilarityContains 1 flavodoxin-like domain. {ECO:0000255|PROSITE-ProRule:PRU00088}.
SimilarityIn the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Peripheral membrane protein. Note=Anchored to the ER membrane by its N- terminal hydrophobic region.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/por/";
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