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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]
POR (Cytochrome P450 Oxidoreductase) is a Protein Coding gene. Diseases associated with POR include Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency and Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis. Among its related pathways are Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include enzyme binding and hydrolase activity. An important paralog of this gene is NOS3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003958 | NADPH-hemoprotein reductase activity | IEA,TAS | 2513880 |
GO:0004128 | cytochrome-b5 reductase activity, acting on NAD(P)H | IEA | -- |
GO:0005515 | protein binding | IPI | 21081644 |
GO:0008941 | nitric oxide dioxygenase activity | IEA | -- |
GO:0009055 | electron transfer activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005829 | cytosol | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | superpathway of tryptophan utilization | ||
3 | Doxorubicin Pathway, Pharmacokinetics | ||
4 | Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics | ||
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003420 | regulation of growth plate cartilage chondrocyte proliferation | IEA | -- |
GO:0006805 | xenobiotic metabolic process | TAS | -- |
GO:0007584 | response to nutrient | IEA | -- |
GO:0009437 | carnitine metabolic process | IEA | -- |
GO:0009725 | response to hormone | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Benzphetamine | Approved, Illicit | Pharma | Enzyme, substrate | 0 | ||
Daunorubicin | Approved | Pharma | Enzyme, substrate | DNA topoisomerase II inhibitor | 383 | |
Flavin Mononucleotide | Approved, Investigational | Pharma | Target, Enzyme, ligand | 12 | ||
Mitomycin | Approved | Pharma | Enzyme, substrate | Inhibits DNA synthesis,antibiotic and antitumor agent | 0 | |
FAD | Approved | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Ferrocytochrome |
|
1818-68-4 |
|
|
Compound | Action | Cas Number |
---|---|---|
Abiraterone acetate | Cytochrome p450 17a1 inhibitor | 154229-18-2 |
Avasimibe | ACAT inhibitor,orally bioavailable | 166518-60-1 |
Ifosfamide | Cytostatic agent | 3778-73-2 |
Ketoconazole | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase | 65277-42-1 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - |
ExUns: | 15c | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||
SP15: | |||||||||||||||||||||||||||
SP16: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POR 30 |
|
||
OR 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | POR 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | POR 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Por 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Por 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | POR 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | POR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | por 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC69029 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | POR (2 of 2) 31 |
|
OneToMany | |
por 30 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cpr 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | emb-8 30 31 |
|
OneToOne | |
K10D2.6 32 |
|
|
|||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAL121C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NCP1 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D08712g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ATR2 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.9633 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os09g0558900 30 |
|
||
Os.27682 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.1549 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.2785 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU09741 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1215 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ccr1 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691478 | Uncertain Significance: Hirschsprung disease | 75,984,941(+) | T/C | MISSENSE_VARIANT | |
691923 | Pathogenic: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 75,985,623(+) | C/A | NONSENSE | |
707201 | Likely Benign: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | 75,981,062(+) | G/T | SYNONYMOUS_VARIANT | |
707244 | Benign: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | 75,983,559(+) | C/T | SYNONYMOUS_VARIANT | |
707444 | Benign/Likely Benign: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency; not specified | 75,985,698(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv120n16 | CNV | deletion | 17901297 |
esv2674423 | CNV | deletion | 23128226 |
esv3571928 | CNV | loss | 25503493 |
esv3613742 | CNV | loss | 21293372 |
esv3613743 | CNV | loss | 21293372 |
esv3613744 | CNV | loss | 21293372 |
esv3613745 | CNV | loss | 21293372 |
esv3613746 | CNV | loss | 21293372 |
esv3613747 | CNV | loss | 21293372 |
nsv428173 | CNV | gain | 18775914 |
nsv528969 | CNV | gain | 19592680 |
nsv607517 | CNV | loss | 21841781 |
nsv824168 | CNV | gain | 20364138 |
nsv951359 | CNV | deletion | 24416366 |
nsv970539 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
|
|
antley-bixler syndrome with genital anomalies and disordered steroidogenesis |
|
|
antley-bixler syndrome without genital anomalies or disordered steroidogenesis |
|
|
antley-bixler syndrome |
|
|
cytochrome p450 oxidoreductase deficiency |
|
|