InnateDB Protein
|
IDBP-379581.4
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
POR
|
Protein Name
|
P450 (cytochrome) oxidoreductase
|
Synonyms
|
CPR; CYPOR; P450R;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000414263
|
InnateDB Gene
|
IDBG-22810 (POR)
|
Protein Structure
|
|
Function |
This 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.
|
Subcellular Localization |
Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Anchored to the ER membrane by its N- terminal hydrophobic region.
|
Disease Associations |
Antley-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:0000269PubMed:14758361, ECO:0000269PubMed:15264278, ECO:0000269PubMed:15483095}. Note=The disease is caused by mutations affecting the gene represented in this entry.Disordered 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:0000269PubMed:14758361, ECO:0000269PubMed:15220035}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
19
[view]
|
Protein-Protein |
19
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
3 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001094
Flavodoxin
IPR008254
Flavodoxin/nitric oxide synthase
IPR029039
Flavoprotein-like
|
PFAM |
PF00258
|
PRINTS |
PR00369
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P16435
|
PhosphoSite |
PhosphoSite-P16435
|
TrEMBL |
C9JQ78
|
UniProt Splice Variant |
|
Entrez Gene |
5447
|
UniGene |
Hs.708842
|
RefSeq |
|
HUGO |
HGNC:9208
|
OMIM |
124015
|
CCDS |
|
HPRD |
00485
|
IMGT |
|
EMBL |
AB051763
AC005067
AC006330
AF258341
BC034277
DQ640499
S90469
|
GenPept |
AAB21814
AAD45961
AAG09798
AAH34277
ABF70199
BAB18572
|
|
|