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POR cytochrome p450 oxidoreductase [ Homo sapiens (human) ]

Gene ID: 5447, updated on 3-Apr-2024

Summary

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Official Symbol
PORprovided by HGNC
Official Full Name
cytochrome p450 oxidoreductaseprovided by HGNC
Primary source
HGNC:HGNC:9208
See related
Ensembl:ENSG00000127948 MIM:124015; AllianceGenome:HGNC:9208
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPR; CYPOR; P450R
Summary
This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
Expression
Ubiquitous expression in liver (RPKM 99.7), adrenal (RPKM 78.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q11.23
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75915155..75986855)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77202773..77274511)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75544473..75616173)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75508048-75508656 Neighboring gene rhomboid domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75528271-75528780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75535657-75536227 Neighboring gene uncharacterized LOC124901680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18302 Neighboring gene microRNA 4651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26184 Neighboring gene RPL7L1 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75563905-75564733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75566331-75566944 Neighboring gene small nucleolar RNA, H/ACA box 14A Neighboring gene Sharpr-MPRA regulatory region 2709 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75596037-75596916 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26186 Neighboring gene Sharpr-MPRA regulatory region 3792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18304 Neighboring gene transmembrane protein 120A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75630123-75630623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26188 Neighboring gene serine/threonine/tyrosine interacting like 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75648513-75649014 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75676791-75677573 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75677574-75678355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26192 Neighboring gene malate dehydrogenase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase. Nurhafizuddin M, et al. Molecules, 2022 Jul 21. PMID 35889519, Free PMC Article
  2. Biased cytochrome P450-mediated metabolism via small-molecule ligands binding P450 oxidoreductase. Jensen SB, et al. Nat Commun, 2021 Apr 15. PMID 33859207, Free PMC Article
  3. POR polymorphisms are associated with 21 hydroxylase deficiency. Pecori Giraldi F, et al. J Endocrinol Invest, 2021 Oct. PMID 33666875, Free PMC Article
  4. [Clinical and genetic analysis of a pedigree affected with cytochrome P450 oxidoreductase deficiency]. Li H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2020 Sep 10. PMID 32820517
  5. Insight into the structural and functional analysis of the impact of missense mutation on cytochrome P450 oxidoreductase. Kumar R, et al. J Mol Graph Model, 2020 Nov. PMID 32805558

See all (241) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Allosteric modulation of cytochrome P450 enzymes by the NADPH cytochrome P450 reductase FMN-containing domain.
    Title: Allosteric modulation of cytochrome P450 enzymes by the NADPH cytochrome P450 reductase FMN-containing domain.
  2. Single Mutations in Cytochrome P450 Oxidoreductase Can Alter the Specificity of Human Cytochrome P450 1A2-Mediated Caffeine Metabolism.
    Title: Single Mutations in Cytochrome P450 Oxidoreductase Can Alter the Specificity of Human Cytochrome P450 1A2-Mediated Caffeine Metabolism.
  3. Effect of pregnane X receptor and cytochrome P450 oxidoreductase gene polymorphisms on trough concentrations of rivaroxaban and edoxaban in patients with nonvalvular atrial fibrillation.
    Title: Effect of pregnane X receptor and cytochrome P450 oxidoreductase gene polymorphisms on trough concentrations of rivaroxaban and edoxaban in patients with nonvalvular atrial fibrillation.
  4. POR overexpression induces tamoxifen-resistance in breast cancer through the STAT1/c-Myc pathway.
    Title: POR overexpression induces tamoxifen-resistance in breast cancer through the STAT1/c-Myc pathway.
  5. In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.
    Title: In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.
  6. The POR rs10954732 polymorphism decreases susceptibility to hepatocellular carcinoma and hepsin as a prognostic biomarker correlated with immune infiltration based on proteomics.
    Title: The POR rs10954732 polymorphism decreases susceptibility to hepatocellular carcinoma and hepsin as a prognostic biomarker correlated with immune infiltration based on proteomics.
  7. Cytochrome P450 reductase (POR) as a ferroptosis fuel.
    Title: Cytochrome P450 reductase (POR) as a ferroptosis fuel.
  8. POR polymorphisms are associated with 21 hydroxylase deficiency.
    Title: POR polymorphisms are associated with 21 hydroxylase deficiency.
  9. Stereoselective Bupropion Hydroxylation by Cytochrome P450 CYP2B6 and Cytochrome P450 Oxidoreductase Genetic Variants.
    Title: Stereoselective Bupropion Hydroxylation by Cytochrome P450 CYP2B6 and Cytochrome P450 Oxidoreductase Genetic Variants.
  10. Microsomal reductase activity in patients with thyroid neoplasms.
    Title: Microsomal reductase activity in patients with thyroid neoplasms.
Submit: New GeneRIF Correction See all GeneRIFs (126)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with POR; predicted interaction to be within the endoplasmic reticulum PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ26468, DKFZp686G04235

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FMN binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables NADP binding IEA
Inferred from Electronic Annotation
more info
  
enables NADPH-hemoprotein reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables NADPH-hemoprotein reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables NADPH-hemoprotein reductase activity TAS
Traceable Author Statement
more info
  
enables flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular organofluorine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in electron transport chain IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of monooxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to hormone IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 

General protein information

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Preferred Names
NADPH--cytochrome P450 reductase
Names
NADPH--hemoprotein reductase
NADPH-dependent cytochrome P450 reductase
P450 (cytochrome) oxidoreductase
NP_001354491.2
NP_001369584.2
NP_001369586.2
NP_001369587.2
NP_001369588.2
NP_001369591.2
NP_001382342.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008930.1 RefSeqGene

    Range
    5001..76754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001367562.3 → NP_001354491.2  NADPH--cytochrome P450 reductase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005067, AC006330
    Consensus CDS
    CCDS5579.2
    UniProtKB/Swiss-Prot
    P16435, Q16455, Q197M5, Q8N181, Q9H3M8, Q9UDT3
    UniProtKB/TrEMBL
    A0A9L9PY49
    Related
    ENSP00000516443.1, ENST00000706545.1
    Conserved Domains (2) summary
    cd06204
    Location:277 → 676
    CYPOR; NADPH cytochrome p450 reductase (CYPOR) serves as an electron donor in several oxygenase systems and is a component of nitric oxide synthases and methionine synthase reductases. CYPOR transfers two electrons from NADPH to the heme of cytochrome p450 via ...
    pfam00258
    Location:82 → 219
    Flavodoxin_1

  2. NM_001382655.3 → NP_001369584.2  NADPH--cytochrome P450 reductase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005067, AC006330
    UniProtKB/TrEMBL
    A0A9L9PY49
    Conserved Domains (2) summary
    cd06204
    Location:295 → 694
    CYPOR; NADPH cytochrome p450 reductase (CYPOR) serves as an electron donor in several oxygenase systems and is a component of nitric oxide synthases and methionine synthase reductases. CYPOR transfers two electrons from NADPH to the heme of cytochrome p450 via ...
    COG0716
    Location:91 → 244
    FldA; Flavodoxin [Energy production and conversion]

  3. NM_001382657.2 → NP_001369586.2  NADPH--cytochrome P450 reductase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005067, AC006330
    Consensus CDS
    CCDS5579.2
    UniProtKB/Swiss-Prot
    P16435, Q16455, Q197M5, Q8N181, Q9H3M8, Q9UDT3

  4. NM_001382658.3 → NP_001369587.2  NADPH--cytochrome P450 reductase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005067, AC006330
    Consensus CDS
    CCDS5579.2
    UniProtKB/Swiss-Prot
    P16435, Q16455, Q197M5, Q8N181, Q9H3M8, Q9UDT3
    UniProtKB/TrEMBL
    A0A9L9PY49
    Related
    ENSP00000516444.1, ENST00000706546.1
    Conserved Domains (2) summary
    cd06204
    Location:277 → 676
    CYPOR; NADPH cytochrome p450 reductase (CYPOR) serves as an electron donor in several oxygenase systems and is a component of nitric oxide synthases and methionine synthase reductases. CYPOR transfers two electrons from NADPH to the heme of cytochrome p450 via ...
    pfam00258
    Location:82 → 219
    Flavodoxin_1

  5. NM_001382659.3 → NP_001369588.2  NADPH--cytochrome P450 reductase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005067, AC006330
    Consensus CDS
    CCDS5579.2
    UniProtKB/Swiss-Prot
    P16435, Q16455, Q197M5, Q8N181, Q9H3M8, Q9UDT3
    UniProtKB/TrEMBL
    A0A9L9PY49
    Conserved Domains (2) summary
    cd06204
    Location:277 → 676
    CYPOR; NADPH cytochrome p450 reductase (CYPOR) serves as an electron donor in several oxygenase systems and is a component of nitric oxide synthases and methionine synthase reductases. CYPOR transfers two electrons from NADPH to the heme of cytochrome p450 via ...
    pfam00258
    Location:82 → 219
    Flavodoxin_1

  6. NM_001382662.3 → NP_001369591.2  NADPH--cytochrome P450 reductase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005067, AC006330
    UniProtKB/TrEMBL
    A0A9L9PY49
    Conserved Domains (2) summary
    cd06204
    Location:277 → 626
    CYPOR; NADPH cytochrome p450 reductase (CYPOR) serves as an electron donor in several oxygenase systems and is a component of nitric oxide synthases and methionine synthase reductases. CYPOR transfers two electrons from NADPH to the heme of cytochrome p450 via ...
    COG0716
    Location:73 → 226
    FldA; Flavodoxin [Energy production and conversion]

  7. NM_001395413.1 → NP_001382342.1  NADPH--cytochrome P450 reductase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005067, AC006330
    Consensus CDS
    CCDS5579.2
    UniProtKB/Swiss-Prot
    P16435, Q16455, Q197M5, Q8N181, Q9H3M8, Q9UDT3
    UniProtKB/TrEMBL
    A0A9L9PY49
    Related
    ENSP00000419970.2, ENST00000461988.6
    Conserved Domains (2) summary
    cd06204
    Location:277 → 676
    CYPOR; NADPH cytochrome p450 reductase (CYPOR) serves as an electron donor in several oxygenase systems and is a component of nitric oxide synthases and methionine synthase reductases. CYPOR transfers two electrons from NADPH to the heme of cytochrome p450 via ...
    pfam00258
    Location:82 → 219
    Flavodoxin_1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    75915155..75986855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    77202773..77274511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P16435.2 GenPept UniProtKB/Swiss-Prot:P16435

Gene LinkOut

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