• Gene id: 5447

Gene Summary

• Gene Symbol: POR   Gene   UCSC   Ensembl
• Aliases: CPR, CYPOR, P450R
• Gene name: cytochrome p450 oxidoreductase
• Alternate names: NADPH--cytochrome P450 reductase, NADPH--hemoprotein reductase, NADPH-dependent cytochrome P450 reductase, P450 (cytochrome) oxidoreductase,
• Gene location: 7q11.23 (109023088: 109088025)     Exons: 18     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 124015

SNPs

rs1057868

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.75985688C>T
NC_000007.13   g.75615006C>T
NG_008930.1   g.75587C>T
NM_000941.3   c.1508C>T
NM_000941.2   c.1508C>T
NM_001367562.1   c.1508C>T
NW_003871064.1   g.3514924C>T
NP_000932.3   p.Ala503Val
NP_001354491.1   p.Ala503Val|SEQ=[C/T]|GENE=POR

rs1057870

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.75985969G>A
NC_000007.13   g.75615287G>A
NG_008930.1   g.75868G>A
NM_000941.3   c.1716G>A
NM_000941.2   c.1716G>A
NM_001367562.1   c.1716G>A
NW_003871064.1   g.3515205G>A|SEQ=[G/A]|GENE=POR

Protein Summary

• Protein general information: P16435  
  • Name: NADPH cytochrome P450 reductase (CPR) (P450R) (EC 1.6.2.4)
  • Length: 677  
  • Mass: 76690
• Sequence:

  MGDSHVDTSSTVSEAVAEEVSLFSMTDMILFSLIVGLLTYWFLFRKKKEEVPEFTKIQTLTSSVRESSFVEKMKK
  TGRNIIVFYGSQTGTAEEFANRLSKDAHRYGMRGMSADPEEYDLADLSSLPEIDNALVVFCMATYGEGDPTDNAQ
  DFYDWLQETDVDLSGVKFAVFGLGNKTYEHFNAMGKYVDKRLEQLGAQRIFELGLGDDDGNLEEDFITWREQFWP
  AVCEHFGVEATGEESSIRQYELVVHTDIDAAKVYMGEMGRLKSYENQKPPFDAKNPFLAAVTTNRKLNQGTERHL
  MHLELDISDSKIRYESGDHVAVYPANDSALVNQLGKILGADLDVVMSLNNLDEESNKKHPFPCPTSYRTALTYYL
  DITNPPRTNVLYELAQYASEPSEQELLRKMASSSGEGKELYLSWVVEARRHILAILQDCPSLRPPIDHLCELLPR
  LQARYYSIASSSKVHPNSVHICAVVVEYETKAGRINKGVATNWLRAKEPAGENGGRALVPMFVRKSQFRLPFKAT
  TPVIMVGPGTGVAPFIGFIQERAWLRQQGKEVGETLLYYGCRRSDEDYLYREELAQFHRDGALTQLNVAFSREQS
  HKVYVQHLLKQDREHLWKLIEGGAHIYVCGDARNMARDVQNTFYDIVAELGAMEHAQAVDYIKKLMTKGRYSLDV
  WS

• Structural information:
  • Protein Domains: (80..22-)
    (/note="Flavodoxin-like-)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03212-)
    (279..52-)
    (/note="FAD-binding-FR-type)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03212"-)
  • Interpro: IPR003097  IPR017927  IPR001094  IPR008254  IPR001709   IPR029039  IPR039261  IPR023173  IPR001433  IPR023208  IPR017938  
  • Prosite: PS51384 PS50902
  • PDB: 1B1C 3FJO 3QE2 3QFC 3QFR 3QFS 3QFT 5EMN 5FA6
  • PDBsum: 1B1C 3FJO 3QE2 3QFC 3QFR 3QFS 3QFT 5EMN 5FA6
  • DIP: 29682
  • STRING: ENSP00000419970
• Other Databases: GeneCards:  POR  Malacards:  POR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0009725	response to hormone	IBA	biological process
GO:0003958	NADPH-hemoprotein reductase activity	IBA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0010181	FMN binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0010181	FMN binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003958	NADPH-hemoprotein reductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0003958	NADPH-hemoprotein reductase activity	IEA	molecular function
GO:0003958	NADPH-hemoprotein reductase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090181	regulation of cholesterol metabolic process	IEA	biological process
GO:0090031	positive regulation of steroid hormone biosynthetic process	IEA	biological process
GO:0071372	cellular response to follicle-stimulating hormone stimulus	IEA	biological process
GO:0071371	cellular response to gonadotropin stimulus	IEA	biological process
GO:0070988	demethylation	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0050661	NADP binding	IEA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0045542	positive regulation of cholesterol biosynthetic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0018393	internal peptidyl-lysine acetylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0010181	FMN binding	IEA	molecular function
GO:0009812	flavonoid metabolic process	IEA	biological process
GO:0009437	carnitine metabolic process	IEA	biological process
GO:0008941	nitric oxide dioxygenase activity	IEA	molecular function
GO:0007584	response to nutrient	IEA	biological process
GO:0003420	regulation of growth plate cartilage chondrocyte proliferation	IEA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IEA	biological process
GO:0060192	negative regulation of lipase activity	IEA	biological process
GO:0047726	iron-cytochrome-c reductase activity	IEA	molecular function
GO:0046210	nitric oxide catabolic process	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0043602	nitrate catabolic process	IEA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0019899	enzyme binding	IEA	molecular function
GO:0019395	fatty acid oxidation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0009055	electron transfer activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IEA	molecular function
GO:0003958	NADPH-hemoprotein reductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0003958	NADPH-hemoprotein reductase activity	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0032770	positive regulation of monooxygenase activity	IDA	biological process
GO:0090346	cellular organofluorine metabolic process	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0050661	NADP binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0010181	FMN binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003958	NADPH-hemoprotein reductase activity	IEA	molecular function
GO:0022900	electron transport chain	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003958	NADPH-hemoprotein reductase activity	TAS	molecular function
GO:0003958	NADPH-hemoprotein reductase activity	TAS	molecular function
GO:0055114	oxidation-reduction process	TAS	biological process

Diseases

Associated diseases	References
Syndromic craniosynostoses	KEGG:H00458
Antley-Bixler syndrome	KEGG:H01753
Disordered steroidogenesis due to cytochrome P450 oxidoreductase	KEGG:H02315
Syndromic craniosynostoses	KEGG:H00458
Antley-Bixler syndrome	KEGG:H01753
Disordered steroidogenesis due to cytochrome P450 oxidoreductase	KEGG:H02315
Congenital adrenal hyperplasia	PMID:17505056
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Disorders of sex development (DSD)	MIK: 27376429
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
27376429	Disorders of sex development (DSD)	one deletion in exon 12 (Del 1696_1698delGTC >del531Valine), one missense mutation in exon 7 (A259G), rs1057868 (C/T A503V), rs1057870 (G/A S572S) in exons 12 and 13			Male infertility