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

POR Gene

protein-coding   GIFtS: 68
GCID: GC07P075528

P450 (Cytochrome) Oxidoreductase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
P450 (Cytochrome) Oxidoreductase1 2     EC 1.6.2.43 8
CPR2 3     NADPH--Cytochrome P450 Reductase2
CYPOR2 3     NADPH-Dependent Cytochrome P450 Reductase2
P450R2 3     

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 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 cytochrome p450 oxidoreductase deficiency, and disordered steroidogenesis due to cytochrome p450 oxidoreductase, and among its related super-pathways are melatonin degradation I and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include iron ion binding and enzyme binding. An important paralog of this gene is NOS3.

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) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for POR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    POR Protein Expression
    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 for POR: 
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    Novus Biologicals POR Protein
    Novus Biologicals POR Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005783endoplasmic reticulum TAS--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0043231intracellular membrane-bounded organelle IDA9618440

    POR for ontologies           About GeneDecksing



    POR Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (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 domains:
    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


    POR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003958NADPH-hemoprotein reductase activity TAS10048323
    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--
    GO:0010181FMN binding IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016787hydrolase activity IEA--
    GO:0019899enzyme binding IEA--
    GO:0047726iron-cytochrome-c reductase activity IEA--
    GO:0050660flavin adenine dinucleotide binding IEA--
    GO:0050661NADP binding IEA--
         
    POR for ontologies           About GeneDecksing


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

         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

    Animal Models:
         MGI mouse knock-outs for POR: Portm2Wolf Portm1Cbk Portm2Ding

       inGenious Targeting Laboratory - Custom generated mouse model solutions for POR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for POR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POR 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POR 

    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:
        
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    Clone
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    OriGene ORF clones in mouse, rat for POR
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    GenScript: all cDNA clones in your preferred vector: POR (NM_000121)
    Sino Biological Human cDNA Clone for POR
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POR


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for POR About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1superpathway of melatonin degradation
    superpathway of melatonin degradation0.92
    melatonin degradation I0.92
    2Cytochrome P450 - arranged by substrate type
    cytochrome P4500.75
    3tryptophan utilization II
    tryptophan utilization I0.70
    4Synthesis of bile acids and bile salts
    bile acid biosynthesis, neutral pathway0.50
    5Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics0.43


    5/6 BioSystems Pathways for POR (see all 6)
        cytochrome P450
    melatonin degradation I
    1,25-dihydroxyvitamin D3 biosynthesis
    bile acid biosynthesis, neutral pathway
    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, Ligands according to IUPHAR, 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 (NCPR)

    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--

    10/11 DrugBank Compounds for POR (see all 11)    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
    DoxorubicinAdria (see all 4)23214-92-8enzymesubstrate6305277
    Nilutamide-- 63612-50-0enzymesubstrate1311586
    Nitrofurantoin-- 67-20-9enzymesubstrate18206659
    Riboflavin Monophosphate-- 146-17-8target--10592235
    enzyme----

    10/130 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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):

    BF770042 CD671670 BM969091 BM726108 AA077451 CR604362 CD014012 BM838203 
    CD743139 AI660469 BM682541 CR597060 BQ644488 H08462 BX324753 BX427206 
    CR610590 BQ644167 CB152196 AA410787 AL525045 CD370064 R75800 BI819768 

    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)      POR embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCTGGAGG
    POR Expression
    About this image


    POR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/41 selected tissues (see all 41) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Epithelium
             vagina ; squamous epithelial cells   
             bronchial epithelia   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Nose (Sensory Organs)    fully expand to see all 4 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             lung ; pneumocytes   

    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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    (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 common ancestor of eukaryotes.

    Orthologs for POR gene from 10/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Por1 , 5 P450 (cytochrome) oxidoreductase1, 5 86.41(n)1
    92.17(a)1
      5 (75.34 cM)5
    189841  NM_008898.11  NP_032924.11 
     1356700335 
    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
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL343734.1(130072-142398)
    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 


    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, 4UniProtKB, 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

    10/1875 SNPs in POR are shown (see all 1875)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0211584
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211582 C Y mis40--------
    VAR_0211604
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211602 V F mis40--------
    VAR_0211554
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211552 A P mis40--------
    VAR_0211544
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211542 Y D mis40--------
    VAR_0211594
    Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1)4--see VAR_0211592 Y C mis40--------
    VAR_0211574
    Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1)4--see VAR_0211572 V E mis40--------
    VAR_0211564
    Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)4--see VAR_0211562 R H mis40--------
    rs725527711,2
    Cpathogenic178917537(+) AGACCG/TACGAG 2 D Y mis10--------
    rs1219129741,2
    Cpathogenic178920012(+) TCCTGC/GCTGCA 2 P A mis10--------
    rs289316081,2
    C,Fpathogenic178921644(+) GGCCCG/ACTACT 2 /H /R mis1 ese37Minor allele frequency- A:0.00MN NA 1112

    HapMap Linkage Disequilibrium report for POR (75528518 - 75616173 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for POR:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv120n16CNV Deletion17901297
    esv2674423CNV Deletion23128226
    nsv528969CNV Gain19592680
    nsv428173CNV Gain18775914
    nsv824168CNV Gain20364138
    essv14753CNV CNV17122850
    dgv2103e1CNV Complex17122850
    dgv2104e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): POR

    Locus Specific Mutation Databases (LSDB): POR
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 124015   
    OMIM disorders: 201750  613571  
    UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435
  • 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/35 diseases for POR (see all 35):    About MalaCards
    cytochrome p450 oxidoreductase deficiency    disordered steroidogenesis due to cytochrome p450 oxidoreductase    antley-bixler syndrome with genital anomalies and disordered steroidogenesis    antley-bixler syndrome
    17-alpha-hydroxylase/17,20-lyase deficiency    focal dermal hypoplasia    eastern equine encephalitis    amenorrhea
    21-hydroxylase deficiency    addison's disease    skeletal dysplasias    craniosynostosis
    gynecomastia    synostosis    cytochrome p450    cushing's syndrome
    pandas    polycystic ovary syndrome    conjunctivitis    encephalomyelitis

    1 disease from the University of Copenhagen DISEASES database for POR:
    Antley-Bixler syndrome

    POR for disorders           About GeneDecksing

    10/24 Novoseek inferred disease relationships for POR gene (see all 24)    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)

    GeneTests: POR
    GeneReviews: POR
    Genetic Association Database (GAD): POR
    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 579):
    (articles sorted by number of sources associating them with POR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19. (PubMed id 18551037)1, 4, 9 Agrawal V....Miller W.L. (2008)
    2. Pharmacogenomics of human liver cytochrome P450 oxidoreductase: multifactorial analysis and impact on microsomal drug oxidation. (PubMed id 19374516)1, 4, 9 Gomes A.M....Zanger U.M. (2009)
    3. 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)
    4. The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency. (PubMed id 18397975)1, 4, 9 Gomes L.G....Miller W.L. (2008)
    5. 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)
    6. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. (PubMed id 19258400)1, 4, 9 Fukami M....Ogata T. (2009)
    7. 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)
    8. 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)
    9. 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)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (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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