Human Gene POR (uc003udy.3)
  Description: Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.
RefSeq Summary (NM_000941): 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. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008]. CCDS Note: This CCDS representation uses the 5'-most in-frame start codon, which is conserved in higher primate species. This starting position is most commonly referred to in the literature, and the numbering system used to describe disease-associated mutations is based on this protein start. This includes data in the P450 oxidoreductase (POR) allele nomenclature locus-specific database, and the Human Gene Mutation Database (HGMD). This start codon is restricted to higher primate species, and it has a weak Kozak signal. However, it should be noted that an alternative downstream start codon, which has a strong Kozak signal and is much more widely conserved, is also present. The use of this downstream start codon would result in a protein that is 3 aa shorter at the N-terminus. Protein sequencing in PMID:2513880 indicates that this is the preferred start codon in vivo. It is therefore possible that the ribosome will initiate at the upstream start codon only a small fraction of the time (if at all), while leaky scanning will allow the downstream start codon to be used predominantly.
Transcript (Including UTRs)
   Position: hg19 chr7:75,544,420-75,616,173 Size: 71,754 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr7:75,583,311-75,615,799 Size: 32,489 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:75,544,420-75,616,173)mRNA (may differ from genome)Protein (680 aa)
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-  Comments and Description Text from UniProtKB
  ID: Q59ED7_HUMAN
DESCRIPTION: RecName: Full=NADPH--cytochrome P450 reductase; EC=1.6.2.4; Flags: Fragment;
FUNCTION: This enzyme is required for electron transfer from NADP to cytochrome P450 (By similarity).
CATALYTIC ACTIVITY: NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane (By similarity).
SIMILARITY: In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): POR
CDC HuGE Published Literature: POR
Positive Disease Associations: breast cancer
Related Studies:
  1. breast cancer
    Haiman, C. A. et al. 2007, A variant in the cytochrome p450 oxidoreductase gene is associated with breast cancer risk in african americans, Cancer Res 2007 67(8) 3565-8. [PubMed 17440066]

-  MalaCards Disease Associations
  MalaCards Gene Search: POR
Diseases sorted by gene-association score: disordered steroidogenesis due to cytochrome p450 oxidoreductase* (1231), antley-bixler syndrome with genital anomalies and disordered steroidogenesis* (1231), antley-bixler syndrome* (171), cytochrome p450 oxidoreductase deficiency* (141), congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency* (100), congenital adrenal hyperplasia (30), acute pulmonary heart disease (11), 17-alpha-hydroxylase/17,20-lyase deficiency (11), acute cor pulmonale (9), acalculous cholecystitis (7), lipoid adrenal hyperplasia (6), craniosynostosis (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 84.84 RPKM in Liver
Total median expression: 940.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.0082-0.439 Picture PostScript Text
3' UTR -159.54374-0.427 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003097 - FAD-binding_1
IPR017927 - Fd_Rdtase_FAD-bd
IPR001094 - Flavdoxin
IPR008254 - Flavodoxin/NO_synth
IPR001709 - Flavoprot_Pyr_Nucl_cyt_Rdtase
IPR023173 - NADPH_Cyt_P450_Rdtase_dom3
IPR001433 - OxRdtase_FAD/NAD-bd
IPR023208 - P450R
IPR017938 - Riboflavin_synthase-like_b-brl

Pfam Domains:
PF00175 - Oxidoreductase NAD-binding domain
PF00258 - Flavodoxin
PF00667 - FAD binding domain

SCOP Domains:
63380 - Riboflavin synthase domain-like
52218 - Flavoproteins
52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain

ModBase Predicted Comparative 3D Structure on Q59ED7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003958 NADPH-hemoprotein reductase activity
GO:0010181 FMN binding
GO:0016491 oxidoreductase activity

Biological Process:
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK290529 - Homo sapiens cDNA FLJ77653 complete cds.
BX648619 - Homo sapiens mRNA; cDNA DKFZp686G04235 (from clone DKFZp686G04235).
AK312543 - Homo sapiens cDNA, FLJ92914, highly similar to Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.
AK129978 - Homo sapiens cDNA FLJ26468 fis, clone KDN04306, highly similar to NADPH-cytochrome P450 reductase (EC 1.6.2.4).
JD297270 - Sequence 278294 from Patent EP1572962.
AB209874 - Homo sapiens mRNA for Hypothetical protein DKFZp686G04235 variant protein.
BC034277 - Homo sapiens P450 (cytochrome) oxidoreductase, mRNA (cDNA clone MGC:9411 IMAGE:3882411), complete cds.
AB527422 - Synthetic construct DNA, clone: pF1KB5551, Homo sapiens POR gene for P450 (cytochrome) oxidoreductase, without stop codon, in Flexi system.
AB051763 - Homo sapiens mRNA for NADPH-cytochrome P-450 reductase, complete cds.
AF258341 - Homo sapiens NADPH-cytochrome P450 reductase mRNA, complete cds.
S90469 - cytochrome P450 reductase [human, placenta, mRNA Partial, 2403 nt].
JD252156 - Sequence 233180 from Patent EP1572962.
AK304511 - Homo sapiens cDNA FLJ59656 complete cds, highly similar to NADPH--cytochrome P450 reductase (EC 1.6.2.4).
AK296639 - Homo sapiens cDNA FLJ52316 complete cds, highly similar to NADPH--cytochrome P450 reductase (EC 1.6.2.4).
AK296096 - Homo sapiens cDNA FLJ59702 complete cds, highly similar to NADPH--cytochrome P450 reductase (EC 1.6.2.4).
AK293194 - Homo sapiens cDNA FLJ50749 complete cds, highly similar to NADPH--cytochrome P450 reductase (EC 1.6.2.4).
JD121634 - Sequence 102658 from Patent EP1572962.
JD325092 - Sequence 306116 from Patent EP1572962.
JD159784 - Sequence 140808 from Patent EP1572962.
JD151216 - Sequence 132240 from Patent EP1572962.
JD275077 - Sequence 256101 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_arenrf2Pathway - Oxidative Stress Induced Gene Expression Via Nrf2

-  Other Names for This Gene
  Alternate Gene Symbols: NM_000941, NP_000932, Q59ED7, Q59ED7_HUMAN
UCSC ID: uc003udy.3
RefSeq Accession: NM_000941
Protein: Q59ED7 CCDS: CCDS5579.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene POR:
abs (Cytochrome P450 Oxidoreductase Deficiency)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000941.2
exon count: 16CDS single in 3' UTR: no RNA size: 2509
ORF size: 2043CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4263.50frame shift in genome: no % Coverage: 99.60
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.