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Aliases for POR Gene

Aliases for POR Gene

  • P450 (Cytochrome) Oxidoreductase 2 3
  • EC 1.6.2.4 4 63
  • CYPOR 3 4
  • P450R 3 4
  • CPR 3 4
  • NADPH-Dependent Cytochrome P450 Reductase 3
  • NADPH--Cytochrome P450 Reductase 3

External Ids for POR Gene

Previous GeneCards Identifiers for POR Gene

  • GC07P074118
  • GC07P075181
  • GC07P075195
  • GC07P075156
  • GC07P075189
  • GC07P075227
  • GC07P075382
  • GC07P075528
  • GC07P070631

Summaries for POR Gene

Entrez Gene Summary for POR Gene

  • 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]

GeneCards Summary for POR Gene

POR (P450 (Cytochrome) Oxidoreductase) is a Protein Coding gene. Diseases associated with POR include antley-bixler syndrome with genital anomalies and disordered steroidogenesis and disordered steroidogenesis due to cytochrome p450 oxidoreductase. Among its related pathways are Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics and Synthesis of bile acids and bile salts. GO annotations related to this gene include enzyme binding and iron ion binding. An important paralog of this gene is NOS1.

UniProtKB/Swiss-Prot for POR Gene

  • 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

Gene Wiki entry for POR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POR Gene

Genomics for POR Gene

Regulatory Elements for POR Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for POR Gene

Start:
75,899,200 bp from pter
End:
75,986,855 bp from pter
Size:
87,656 bases
Orientation:
Plus strand

Genomic View for POR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POR Gene

Proteins for POR Gene

  • Protein details for POR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16435-NCPR_HUMAN
    Recommended name:
    NADPH--cytochrome P450 reductase
    Protein Accession:
    P16435
    Secondary Accessions:
    • Q16455
    • Q197M5
    • Q8N181
    • Q9H3M8
    • Q9UDT3

    Protein attributes for POR Gene

    Size:
    677 amino acids
    Molecular mass:
    76690 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH34277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POR Gene

neXtProt entry for POR Gene

Proteomics data for POR Gene at MOPED

Post-translational modifications for POR Gene

  • Ubiquitination at Lys56 and Lys487
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for POR (POR/Cytochrome P450 Reductase)

Domains for POR Gene

Suggested Antigen Peptide Sequences for POR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16435

UniProtKB/Swiss-Prot:

NCPR_HUMAN :
  • P16435
Domain:
  • Contains 1 FAD-binding FR-type domain.
  • Contains 1 flavodoxin-like domain.
Family:
  • In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
genes like me logo Genes that share domains with POR: view

No data available for Gene Families for POR Gene

Function for POR Gene

Molecular function for POR Gene

GENATLAS Biochemistry:
P-450 (cytochrome) oxidoreductase
UniProtKB/Swiss-Prot CatalyticActivity:
NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for POR Gene

Gene Ontology (GO) - Molecular Function for POR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003958 NADPH-hemoprotein reductase activity TAS 10048323
GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 21081644
GO:0008941 nitric oxide dioxygenase activity IEA --
genes like me logo Genes that share ontologies with POR: view
genes like me logo Genes that share phenotypes with POR: view

Animal Models for POR Gene

MGI Knock Outs for POR:

Animal Model Products

miRNA for POR Gene

No data available for Transcription Factor Targeting and HOMER Transcription for POR Gene

Localization for POR Gene

Subcellular locations from UniProtKB/Swiss-Prot for POR Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Anchored to the ER membrane by its N-terminal hydrophobic region.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POR Gene COMPARTMENTS Subcellular localization image for POR gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
mitochondrion 2
nucleus 2
peroxisome 2
plasma membrane 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for POR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA 19946888
GO:0043231 intracellular membrane-bounded organelle IDA 9618440
genes like me logo Genes that share ontologies with POR: view

Pathways for POR Gene

genes like me logo Genes that share pathways with POR: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for POR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003420 regulation of growth plate cartilage chondrocyte proliferation IEA --
GO:0007584 response to nutrient IEA --
GO:0009437 carnitine metabolic process IEA --
GO:0009812 flavonoid metabolic process IEA --
GO:0018393 internal peptidyl-lysine acetylation IEA --
genes like me logo Genes that share ontologies with POR: view

Compounds for POR Gene

Compound Products

(4) ApexBio Compounds for POR Gene

Compound Action Cas Number
Abiraterone acetate Cytochrome p450 17a1 inhibitor [154229-18-2]
Avasimibe "ACAT inhibitor,orally bioavailable" [166518-60-1]
Ifosfamide Cytostatic agent [3778-73-2]
Ketoconazole Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase [65277-42-1]

(9) HMDB Compounds for POR Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Ferricytochrome
  • 553-12-8 (FREE ACID)
1818-68-4
Ferrocytochrome
  • 553-12-8 (FREE ACID)
1818-68-4
Flavin Mononucleotide
  • FMN
146-17-8
Heme
  • (protoporphyrinato)iron
14875-96-8

(12) Drugbank Compounds for POR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2'-Monophosphoadenosine 5'-Diphosphoribose
target
Benzphetamine
  • Benzfetamine
156-08-1 enzyme substrate
Daunorubicin
20830-81-3 enzyme substrate
Doxorubicin
  • Adria
23214-92-8 enzyme substrate
Ethylmorphine
  • Dionine
76-58-4 enzyme

(130) Novoseek inferred chemical compound relationships for POR Gene

Compound -log(P) Hits PubMed IDs
nadph 90.2 185
semiquinone 81.3 16
benzphetamine 80.6 1
tirapazamine 78.7 7
flavin 78 26

(2) PharmGKB related drug/compound annotations for POR Gene

Drug/compound Annotation
midazolam CA
tacrolimus CA
genes like me logo Genes that share compounds with POR: view

Transcripts for POR Gene

Unigene Clusters for POR Gene

P450 (cytochrome) oxidoreductase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POR

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POR Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - -
SP6:
SP7: - - -
SP8: - -
SP9:
SP10:
SP11: - - -
SP12: - -
SP13: - -
SP14:
SP15: - - -
SP16: - - - -

ExUns: 15c ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for POR Gene

GeneLoc Exon Structure for
POR
ECgene alternative splicing isoforms for
POR

Expression for POR Gene

mRNA expression in normal human tissues for POR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POR Gene

This gene is overexpressed in Liver (7.9), Whole Blood (4.7), and Adrenal Gland (4.2).

Protein differential expression in normal tissues for POR Gene

This gene is overexpressed in Liver (13.4), Adrenal (8.2), and Placenta (7.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for POR Gene

SOURCE GeneReport for Unigene cluster for POR Gene Hs.354056

genes like me logo Genes that share expressions with POR: view

Expression partners for POR Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for POR Gene

Orthologs for POR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POR 35
  • 89.79 (n)
  • 92.49 (a)
POR 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POR 35
  • 90.45 (n)
  • 93.5 (a)
OR 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Por 35
  • 86.41 (n)
  • 92.17 (a)
Por 16
Por 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POR 35
  • 99.17 (n)
  • 99.71 (a)
POR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Por 35
  • 86.85 (n)
  • 92.61 (a)
oppossum
(Monodelphis domestica)
Mammalia POR 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 4 (a)
ManyToMany
chicken
(Gallus gallus)
Aves POR 35
  • 78.86 (n)
  • 82.96 (a)
POR 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POR 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia por 35
  • 72.09 (n)
  • 80.33 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC69029 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
por 35
  • 70.89 (n)
  • 72.98 (a)
por 36
  • 72 (a)
OneToMany
POR (2 of 2) 36
  • 75 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cpr 37
  • 58 (a)
Cpr 35
  • 63.12 (n)
  • 57.49 (a)
Cpr 36
  • 57 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K10D2.6 37
  • 50 (a)
emb-8 35
  • 51.83 (n)
  • 49.61 (a)
emb-8 36
  • 48 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL121C 35
  • 49.97 (n)
  • 39.21 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D08712g 35
  • 47.1 (n)
  • 38.7 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCP1 35
  • 48.57 (n)
  • 36.94 (a)
NCP1 36
  • 31 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ATR2 35
  • 48.23 (n)
  • 40.55 (a)
soybean
(Glycine max)
eudicotyledons Gma.9633 35
barley
(Hordeum vulgare)
Liliopsida Hv.1549 35
rice
(Oryza sativa)
Liliopsida Os.27682 35
Os09g0558900 35
  • 49.37 (n)
  • 41.98 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.2785 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09741 35
  • 54.69 (n)
  • 41.43 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ccr1 35
  • 46.77 (n)
  • 41.12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1215 36
  • 51 (a)
OneToOne
Species with no ortholog for POR:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for POR Gene

ENSEMBL:
Gene Tree for POR (if available)
TreeFam:
Gene Tree for POR (if available)

Paralogs for POR Gene

Paralogs for POR Gene

genes like me logo Genes that share paralogs with POR: view

Variants for POR Gene

Sequence variations from dbSNP and Humsavar for POR Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs173270 -- 75,952,171(-) ccagc(C/T)gcccc intron-variant
rs239950 -- 75,952,396(-) ccagc(C/T)gcccc intron-variant
rs239951 -- 75,952,023(-) ctggg(A/C)agtga intron-variant
rs239952 -- 75,951,936(-) CGTCC(A/G)GGAGG intron-variant
rs239953 -- 75,950,172(-) gtcag(A/G)tcgtc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POR Gene

Variant ID Type Subtype PubMed ID
nsv528969 CNV Gain 19592680
essv14753 CNV CNV 17122850
dgv120n16 CNV Deletion 17901297
dgv2103e1 CNV Complex 17122850
nsv428173 CNV Gain 18775914
dgv2104e1 CNV Complex 17122850
esv2674423 CNV Deletion 23128226
nsv824168 CNV Gain 20364138

Relevant External Links for POR Gene

HapMap Linkage Disequilibrium report
POR
Human Gene Mutation Database (HGMD)
POR
Locus Specific Mutation Databases (LSDB)
POR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POR Gene

Disorders for POR Gene

(2) OMIM Diseases for POR Gene (124015)

UniProtKB/Swiss-Prot

NCPR_HUMAN
  • 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:0000269 PubMed:14758361, ECO:0000269 PubMed:15264278, ECO:0000269 PubMed: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:0000269 PubMed:14758361, ECO:0000269 PubMed:15220035}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for POR Gene

(24) Novoseek inferred disease relationships for POR Gene

Disease -log(P) Hits PubMed IDs
antley-bixler syndrome 92.1 16
adrenal hyperplasia congenital 67.4 12
virilization 55.7 2
lipoid congenital adrenal hyperplasia 46.8 1
craniosynostosis 40.7 3

Relevant External Links for POR

GeneTests
POR
GeneReviews
POR
Genetic Association Database (GAD)
POR
Human Genome Epidemiology (HuGE) Navigator
POR
genes like me logo Genes that share disorders with POR: view

No data available for Genatlas for POR Gene

Publications for POR Gene

  1. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PMID: 14758361) Flueck C.E. … Miller W.L. (Nat. Genet. 2004) 3 4 23
  2. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (PMID: 15264278) Adachi M. … Oka A. (Am. J. Med. Genet. A 2004) 3 4 23
  3. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. (PMID: 15483095) Fukami M. … Ogata T. (J. Clin. Endocrinol. Metab. 2005) 3 4 23
  4. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. (PMID: 15220035) Arlt W. … Shackleton C.H.L. (Lancet 2004) 3 4 23
  5. Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19. (PMID: 18551037) Agrawal V. … Miller W.L. (Pharmacogenet. Genomics 2008) 3 23 48

Products for POR Gene

Sources for POR Gene

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