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    POR cytochrome p450 oxidoreductase [ Homo sapiens (human) ]

    Gene ID: 5447, updated on 14-Nov-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
    mouse all
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    Genomic context

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    See POR in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75915155..75986855)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (77202773..77274511)
    RS_2024_09 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 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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    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)

    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 electron transport chain IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nitric oxide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in organofluorine metabolic process 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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