InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POR

Summary

InnateDB Protein

IDBP-484326.3

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

ENSP00000419970

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:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H
GO:0005506	iron ion binding
GO:0005515	protein binding
GO:0008941	nitric oxide dioxygenase activity
GO:0009055	electron carrier activity
GO:0010181	FMN binding
GO:0016491	oxidoreductase activity
GO:0016787	hydrolase activity
GO:0019899	enzyme binding
GO:0047726	iron-cytochrome-c reductase activity
GO:0050660	flavin adenine dinucleotide binding
GO:0050661	NADP binding

Biological Process

GO:0003420	regulation of growth plate cartilage chondrocyte proliferation
GO:0007584	response to nutrient
GO:0009437	carnitine metabolic process
GO:0009812	flavonoid metabolic process
GO:0018393	internal peptidyl-lysine acetylation
GO:0019395	fatty acid oxidation
GO:0032332	positive regulation of chondrocyte differentiation
GO:0032770	positive regulation of monooxygenase activity
GO:0042493	response to drug
GO:0043066	negative regulation of apoptotic process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043602	nitrate catabolic process
GO:0045542	positive regulation of cholesterol biosynthetic process
GO:0045880	positive regulation of smoothened signaling pathway
GO:0046210	nitric oxide catabolic process
GO:0055114	oxidation-reduction process
GO:0060192	negative regulation of lipase activity
GO:0070988	demethylation
GO:0071371	cellular response to gonadotropin stimulus
GO:0071372	cellular response to follicle-stimulating hormone stimulus
GO:0071375	cellular response to peptide hormone stimulus
GO:0090031	positive regulation of steroid hormone biosynthetic process
GO:0090181	regulation of cholesterol metabolic process
GO:0090346	cellular organofluorine metabolic process

Cellular Component

GO:0005739	mitochondrion
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0043231	intracellular membrane-bounded organelle

Protein Structure and Domains

PDB ID

InterPro

IPR001094 Flavodoxin
IPR001433 Oxidoreductase FAD/NAD(P)-binding
IPR001709 Flavoprotein pyridine nucleotide cytochrome reductase
IPR003097 FAD-binding, type 1
IPR008254 Flavodoxin/nitric oxide synthase
IPR017938 Riboflavin synthase-like beta-barrel
IPR029039 Flavoprotein-like

PFAM

PF00175
PF00667
PF00258

PRINTS

PR00369
PR00371

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P16435