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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

POR Gene

protein-coding   GIFtS: 69
GCID: GC07P075528

P450 (cytochrome) oxidoreductase

 Explore 38 diseases affiliated with
POR via our new
 Human Malady Compendium 
Biological research products
for POR
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
P450 (Cytochrome) Oxidoreductase1 2     EC 1.6.2.43 8
CYPOR1 2 3     FLJ264681
CPR2 3     NADPH--Cytochrome P450 Reductase2
P450R2 3     NADPH-Dependent Cytochrome P450 Reductase2

External Ids:    HGNC: 92081   Entrez Gene: 54472   Ensembl: ENSG000001279487   OMIM: 1240155   UniProtKB: P164353   

Export aliases for POR gene to outside databases

Previous GC identifers: GC07P074118 GC07P075181 GC07P075195 GC07P075156 GC07P075189 GC07P075227 GC07P075382 GC07P070631


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for POR:
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)

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435
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

Gene Wiki entry for POR (Cytochrome P450 reductase)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the POR gene promoter:
         GR   PPAR-alpha   Pbx1a   GR-beta   GR-alpha   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): POR promoter sequence
   Search SABiosciences Chromatin IP Primers for POR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.2   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.2

POR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POR gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P075528:  view genomic region     (about GC identifiers)

Start:
75,528,518 bp from pter      End:
75,616,173 bp from pter
Size:
87,656 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 74,877,484-74,949,237     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435 (See protein sequence)
Recommended Name: NADPH--cytochrome P450 reductase  
Size: 677 amino acids; 76690 Da
Cofactor: FAD
Cofactor: FMN
Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Anchored to the ER membrane by
its N-terminal hydrophobic region
Sequence caution: Sequence=AAH34277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/7 PDB 3D structures from and Proteopedia for POR (see all 7):
1B1C (3D)        3FJO (3D)        3QE2 (3D)        3QFC (3D)        3QFR (3D)        3QFS (3D)    
Secondary accessions: Q16455 Q197M5 Q8N181 Q9H3M8 Q9UDT3

Explore the universe of human proteins at neXtProt for POR: NX_P16435

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P16435

  • 4/20 DME Specific Peptides for POR (P16435) (see all 20)
     GSQTGTA  GKEVGET  CELLPRLQ  RKSQFRLP 

    POR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000932.3  
    ENSEMBL proteins: 
     ENSP00000395813   ENSP00000390540   ENSP00000419970   ENSP00000399409   ENSP00000409881  
     ENSP00000378355   ENSP00000409238   ENSP00000399327   ENSP00000389409   ENSP00000399556  
     ENSP00000389719   ENSP00000404731   ENSP00000414263   ENSP00000393527   ENSP00000400964  
     ENSP00000403494   ENSP00000412490   ENSP00000446149   ENSP00000416572   ENSP00000414244  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: POR
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    Novus Biologicals POR Protein
    Novus Biologicals POR Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for POR

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005625soluble fraction ----
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum TAS--
    GO:0005789endoplasmic reticulum membrane IEA--


    POR for ontologies           About GeneDecksing



    POR Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for POR (POR/Cytochrome P450 Reductase)
    OriGene Antibodies (see all 9): POR
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    Novus Biologicals POR Antibodies
    Search for Antibodies for POR at Abcam  
    Uscn Antibodies for POR
    ThermoFisher Antibodies for POR

    Assay Products for POR: 
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    Uscn ELISAs and CLIAs for POR


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    POR for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR017927 Fd_Rdtase_FAD-bd
     IPR001094 Flavdoxin
     IPR008254 Flavodoxin/NO_synth
     IPR001433 OxRdtase_FAD/NAD-bd
     IPR003097 FAD-binding_1

    Graphical View of Domain Structure for InterPro Entry P16435

    ProtoNet protein and cluster: P16435

    5 Blocks protein families:
    IPB001094 Flavodoxin signature
    IPB001433 Oxidoreductase FAD/NAD(P)-binding
    IPB001709 Flavoprotein pyridine nucleotide cytochrome reductase signature
    IPB003097 FAD-binding
    IPB008254 Flavodoxin/nitric oxide synthase


    UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435
    Similarity: In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family
    Similarity: Contains 1 FAD-binding FR-type domain
    Similarity: Contains 1 flavodoxin-like domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435
    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
    Catalytic activity: NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein

         Genatlas biochemistry entry for POR:
    P-450 (cytochrome) oxidoreductase

    Enzyme Number (IUBMB): EC 1.6.2.41 2

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POR
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate POR:
    hsa-miR-944 hsa-miR-4282 hsa-miR-570 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidPOR 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for POR (see all 7)
    OriGene shRNA RFP: POR
    OriGene siRNA: POR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for POR

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for POR (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POR (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: POR (NM_000121)
    Sino Biological Human cDNA Clone for POR
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POR 

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    Search LifeMap BioReagents cell lines for POR

    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POR

    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003958NADPH-hemoprotein reductase activity TAS2513880
    GO:0004128cytochrome-b5 reductase activity, acting on NAD(P)H IEA--
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0009055electron carrier activity IEA--


    POR for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for POR:
     Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-outs for POR: Portm2Wolf Portm1Cbk Portm2Ding
         15/16 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Por) (see all 16):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     growth/size  homeostasis/metabolism  limbs/digits/tail  liver/biliary system  mortality/aging 
     muscle  nervous system  renal/urinary system  reproductive system  respiratory system 

    POR for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1superpathway of melatonin degradation
    superpathway of melatonin degradation1.00
    melatonin degradation I0.85
    2Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics
    Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics1.00
    3Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics1.00
    41,25-dihydroxyvitamin D3 biosynthesis
    1,25-dihydroxyvitamin D3 biosynthesis1.00
    5Cytochrome P450 - arranged by substrate type
    cytochrome P4500.73


    5 BioSystems Pathways for POR 
        cytochrome P450
    1,25-dihydroxyvitamin D3 biosynthesis
    bile acid biosynthesis, neutral pathway
    melatonin degradation I
    superpathway of melatonin degradation

    2 PharmGKB Pathways for POR
        Doxorubicin Pathway, Pharmacokinetics
    Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for POR

    5/46 Interacting proteins for POR (P164351, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRCC6P129562, 3MINT-63487 I2D: score=4 
    RABEPKQ7Z6M12, 3MINT-8267830 I2D: score=2 
    CDIPTO147353I2D: score=4 
    CYP51A1Q168503I2D: score=4 
    ZMPSTE24O758443I2D: score=4 
    About this table

    Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003420regulation of growth plate cartilage chondrocyte proliferation IEA--
    GO:0007584response to nutrient IEA--
    GO:0009437carnitine metabolic process IEA--
    GO:0009812flavonoid metabolic process IEA--
    GO:0018393internal peptidyl-lysine acetylation IEA--


    POR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    POR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for POR

    9 HMDB Compounds for POR    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Ferricytochrome553-12-8 (FREE ACID) (see all 21)1818-68-4--
    Ferrocytochrome553-12-8 (FREE ACID) (see all 21)1818-68-4--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Lipoic acid(+)-alpha-Lipoate (see all 92)1077-28-7--
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    10 DrugBank Compounds for POR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    BenzphetamineBenzfetamine (see all 3)156-08-1enzymesubstrate3148724 1416971 2434473 3125159 3924914
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423 10592235
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423 10592235
    Lipoic Acid1,2-Dithiolane-3R-pentanoic acid (see all 4)62-46-4enzymeinhibitor18838505 16391466 19548358
    Daunorubicin-- 20830-81-3enzymesubstrate10543722 34156
    Mitomycin7-Amino-9α-methoxymitosane (see all 3)50-07-7enzymesubstrate2122607 2123741
    Nilutamide-- 63612-50-0enzymesubstrate1311586
    Nitrofurantoin-- 67-20-9enzymesubstrate18206659
    Riboflavin Monophosphate-- 146-17-8target--10592235
    enzyme----
    EthylmorphineDionine (see all 2)76-58-4enzyme----

    10/130 Novoseek chemical compound relationships for POR gene (see all 130)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadph 90.2 410 8593536 (7), 1312930 (5), 15516695 (4), 12787027 (4) (see all 99)
    semiquinone 81.3 21 19055322 (3), 17015278 (2), 12631275 (2), 16009330 (2) (see all 11)
    benzphetamine 80.6 1 1708254 (1)
    tirapazamine 78.7 7 2117504 (2), 9271329 (1), 19772319 (1), 10584872 (1) (see all 6)
    flavin 78 31 16249336 (2), 19908820 (2), 12787027 (2), 15703263 (2) (see all 21)
    biliverdin 76.2 17 12626517 (2), 11853459 (1), 16115609 (1), 15226268 (1) (see all 13)
    ethoxyresorufin 73.4 5 1537466 (1), 15486049 (1), 16276964 (1), 17455110 (1) (see all 5)
    cypermethrin 71.5 94 8971136 (7), 20027147 (6), 16249336 (5), 10864447 (5) (see all 18)
    2',5'-adp 71.2 7 12787027 (2), 16445284 (1), 17580970 (1), 8218222 (1)
    2-aminoanthracene 71.1 1 19884324 (1)

    Search CenterWatch for drugs/clinical trials and news about POR / NCPR 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for POR gene: 
    NM_000941.2  

    Unigene Cluster for POR:

    P450 (cytochrome) oxidoreductase
    Hs.354056  [show with all ESTs]
    Unigene Representative Sequence: CD014011
    18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000453773 ENST00000439963 ENST00000461988(uc003udy.3 uc011kgc.2)
    ENST00000448410 ENST00000421059 ENST00000471238 ENST00000394893 ENST00000412521
    ENST00000414186 ENST00000432753 ENST00000449920 ENST00000418341 ENST00000412064
    ENST00000454934 ENST00000447222 ENST00000426184 ENST00000439297 ENST00000475509(uc011kgb.2)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POR
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate POR:
    hsa-miR-944 hsa-miR-4282 hsa-miR-570 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidPOR 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: POR (NM_000121)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POR

    Additional cDNA sequence: 

    AB051763.1 AB209874.1 AF258341.1 AK129978.1 AK290529.1 AK293194.1 AK296096.1 AK296639.1 
    AK304511.1 AK312543.1 BC034277.1 BX648619.1 S90469.1 

    24/31 DOTS entries (see all 31):

    DT.454059  DT.100670935  DT.95348106  DT.100670950  DT.97860576  DT.121058987  DT.97804833  DT.100670931 
    DT.100670932  DT.121058884  DT.100858239  DT.121059045  DT.121059011  DT.121058927  DT.100642580  DT.100670938 
    DT.97837884  DT.100037952  DT.101985353  DT.121058946  DT.40307422  DT.404401  DT.97860574  DT.100864295 

    24/498 AceView cDNA sequences (see all 498):

    BM969091 BI819768 BF770042 BQ881468 BI824746 CR613407 CD014011 BU740306 
    AI660469 AK129978 BQ690874 AI660549 CR590488 BI193479 BU633673 BQ653922 
    BQ893478 BQ644348 BM726108 BQ773043 BQ647504 BM126953 CR597060 CR604872 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for POR (see all 16)    About this scheme

    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:                                      -     -     -                 -     -           -                 -                                                   

    ExUns: 15c ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b
    SP1:                                      -                                             
    SP2:                                      -                                             
    SP3:                                      -                                             
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for POR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    POR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTCTGGAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    POR expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobulePerivenous HepatocytesLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See POR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for POR

    SOURCE GeneReport for Unigene cluster: Hs.354056
        SABiosciences Expression via Pathway-Focused PCR Array including POR: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for POR gene from 10/40 species (see all 40)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves POR1 P450 (cytochrome) oxidoreductase 78.86(n)
    82.96(a)
      417520  NM_001195796.1  NP_001182725.1 
    lizard
    (Anolis carolinensis)
    Reptilia POR6
    NDOR16
    --
    81(a)
    31(a)
    1 ↔ 1
    possible ortholog
    GL343734.1(134429-141971)
    GL344097.1(1892-21914)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC690292 hypothetical protein MGC69029 77.17(n)    BC059318.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC056767.12   -- 77.89(n)   327556  BC056767.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cpr1 , 3 electron transport NADPH-ferrihemoprotein
    reductase3
    Cytochrome P450 reductase1
    58(a)3
    63.12(n)1
    57.63(a)1
      2 26C33
    338831  NM_057810.31  NP_477158.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K10D2.63
    emb-81
    NADPH-cytochrome P4503
    Protein EMB-81
    50(a)3
    51.88(n)1
    49.61(a)1
      III(5268752-5271444)3
    1757101  NM_065702.41  NP_498103.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCP11 Ncp1p 47.25(n)
    35.95(a)
      856438   NP_011908.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATR11 NADPH-ferrihemoprotein reductase 48.7(n)
    41.69(a)
      828554  NM_118585.3  NP_194183.1 
    rice
    (Oryza sativa)
    Liliopsida Os.276822 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.23(n)    AK068915.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria cysJ6
    sulfite reductase, alpha subunit, flavoprotein
    29(a)
    possible ortholog
    Chromosome(2888121-2889920)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for POR gene
    NOS32  NOS22  MTRR2  NOS12  
    3 SIMAP similar genes for POR using alignment to 10 protein entries:     NCPR_HUMAN (see all proteins):
    DKFZp686G04235    NDOR1    NOS3

    POR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1469 NCBI SNPs in POR are shown (see all 1469    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs77996571,2
    C,--74875851(+) ggtggC/Tgcatg 1 -- us2k12Minor allele frequency- T:0.00NA 4
    rs605643201,2
    --74876297(+) GGTCTC/TGAACT 1 -- us2k10--------
    rs776321441,2
    --74876808(+) CTTGAA/GACCAG 1 -- us2k10--------
    rs125372821,2
    C,F,H,--74877276(+) GCCGCC/G/TGTCTC 1 -- us2k114NS EA NA WA 3266
    rs725539711,2
    C,F,--74877311(+) CCACGC/AACTTT 1 -- us2k12Minor allele frequency- A:0.02NA 1522
    rs725539721,2
    C,F,--74877332(+) CCGGGC/AGACCC 1 -- us2k12Minor allele frequency- A:0.08NA 1522
    rs725539751,2
    C,F,--74877383(+) AAGAGC/TGCAAA 1 -- us2k11Minor allele frequency- T:0.00--1402
    rs38238841,2
    C,F,A,H,--74877519(-) AGGGCT/GCAGGC 1 -- ut5112Minor allele frequency- G:0.35EA NA WA CSA 3237
    rs725539771,2
    F--74877533(+) CAGGTG/TCCCGC 1 -- ut511Minor allele frequency- T:0.00--1402
    rs725539781,2
    F--74877582(+) CGCGGC/TGACGG 1 -- int11Minor allele frequency- T:0.00--1402

    HapMap Linkage Disequilibrium report for POR (75528518 - 75616173 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for POR
         2 CNVs: 3686 22956
    Human Gene Mutation Database (HGMD): POR

    Locus Specific Mutation Databases (LSDB): POR

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing POR
    DNA2.0 Custom Variant and Variant Library Synthesis for POR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    POR for disorders           About GeneDecksing

    OMIM gene information: 124015   
    OMIM disorders: 201750  613571  
    UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435
  • Defects in POR are the cause of 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
  • Defects in POR are the cause of 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

    20/38 diseases for POR (see all 38):    About MalaCards
    antley-bixler syndrome    17-alpha-hydroxylase/17,20-lyase deficiency    adrenal hyperplasia    disordered steroidogenesis
    antley-bixler syndrome with genital anomalies and disordered steroidogenesis    lipoid congenital adrenal hyperplasia    21-hydroxylase deficiency    por deficiency
    polycystic ovary syndrome    amenorrhea    virilization    addison's disease
    cushing's syndrome    craniosynostosis    synostosis    fanconi's anemia
    gynecomastia    pandas    colon cancer    ovarian cancer

    3 diseases from the University of Copenhagen DISEASES database for POR:
    Antley-Bixler syndrome     Craniosynostosis     Eastern equine encephalitis

    24 Novoseek disease relationships for POR gene (see top 10)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    antley-bixler syndrome 92.1 22 16998238 (2), 15793702 (2), 18630181 (2), 16467261 (1) (see all 13)
    adrenal hyperplasia congenital 67.4 14 15666853 (2), 16915000 (2), 18493134 (1), 18493133 (1) (see all 10)
    virilization 55.7 2 19258400 (1), 15316970 (1)
    lipoid congenital adrenal hyperplasia 46.8 1 15817507 (1)
    craniosynostosis 40.7 5 16467261 (2), 18493134 (1)
    skeletal dysplasia 31.2 2 19258400 (1), 16103714 (1)
    adenoma adrenocortical 30.6 1 8496319 (1)
    colon carcinoma 20.8 1 8162587 (1)
    polycystic ovary syndrome 18.4 2 16103714 (1), 16915000 (1)
    addisons disease 8.25 1 15817507 (1)
    cushing syndrome 5.06 1 8496319 (1)
    carcinoma 4.58 1 15036858 (1)
    metastasis 1.19 1 16243809 (1)
    leukemia 0 1 16574318 (1)
    shock 0 1 17935786 (1)
    colon cancer 0 1 17015278 (1)
    cancer lung 0 2 10584872 (1), 15746946 (1)
    gastric carcinoma 0 2 8665520 (1), 9309161 (1)
    breast cancer 0 4 14583491 (2), 14555709 (1), 19956630 (1)
    ovarian cancer 0 1 16243809 (1)
    adenoma 0 1 8496319 (1)
    tumors 0 5 8665520 (1), 18794327 (1), 8195019 (1), 8844801 (1) (see all 5)
    cancer 0 2 15386410 (1), 10874132 (1)
    congenital malformation 0 1 18551037 (1)

    GeneTests: POR
    Cytochrome P450 Oxidoreductase Deficiency

    Human Genome Epidemiology (HuGE) Navigator: POR (51 documents)

    Export disorders for POR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for POR gene, integrated from 9 sources (see all 570):
    (articles sorted by number of sources associating them with POR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (PubMed id 15264278)1, 2, 9 Adachi M.... Oka A. (2004)
    2. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PubMed id 14758361)1, 2, 9 Flueck C.E.... Miller W.L. (2004)
    3. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. (PubMed id 15483095)1, 2, 9 Fukami M.... Ogata T. (2005)
    4. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. (PubMed id 15220035)1, 2, 9 Arlt W.... Shackleton C.H.L. (2004)
    5. Crystal structure of the FMN-binding domain of human cytochrome P450 reductase at 1.93 A resolution. (PubMed id 10048323)1, 2, 9 Zhao Q.... Driessen H.P. (1999)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Quantification of cytochrome P450 reductase gene expression in human tissues. (PubMed id 1550342)1, 2 Shephard E.A.... Phillips I.R. (1992)
    8. Isolation of a human cytochrome P-450 reductase cDNA clone and localization of the corresponding gene to chromosome 7q11.2. (PubMed id 2516426)1, 3 Shephard E.A....Povey S. (1989)
    9. Structural and functional analysis of NADPH-cytochrome P-450 reductase from human liver: complete sequence of human enzyme and NADPH-binding sites. (PubMed id 2513880)1, 2 Haniu M.... Shively J.E. (1989)
    10. P450 oxidoreductase deficiency: a new disorder of steroidogenesis. (PubMed id 16467261)1, 9 Miller W.L....Agrawal V. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5447 HGNC: 9208 AceView: POR Ensembl:ENSG00000127948 euGenes: HUgn5447
    ECgene: POR H-InvDB: POR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for POR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POR Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POR
    NIEHS-SNPshttp://egp.gs.washington.edu/data/por/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for POR gene:
    Search GeneIP for patents involving POR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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