InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POR

Summary

InnateDB Protein

IDBP-379556.4

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

ENSP00000390540

InnateDB Gene

IDBG-22810 (POR)

Protein Structure

UniProt Annotation

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

Interactions

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]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003958	NADPH-hemoprotein reductase activity
GO:0005506	iron ion binding
GO:0005515	protein binding
GO:0010181	FMN binding
GO:0016491	oxidoreductase activity