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PNPO Gene

protein-coding   GIFtS: 66
GCID: GC17P046018

Pyridoxamine 5'-Phosphate Oxidase

(Previous name: pyridoxine 5'-phosphate oxidase)
  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)
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Aliases
Pyridoxamine 5'-Phosphate Oxidase1 2     PDXPO2
Pyridoxine 5'-Phosphate Oxidase1 2     Epididymis Secretory Protein Li 3022
Pyridoxamine-Phosphate Oxidase2 3     Pyridoxal 5'-Phosphate Synthase2
EC 1.4.3.53 8     Pyridoxine-5'-Phosphate Oxidase2
HEL-S-3022     

External Ids:    HGNC: 302601   Entrez Gene: 551632   Ensembl: ENSG000001084397   OMIM: 6032875   UniProtKB: Q9NVS93   

Export aliases for PNPO gene to outside databases

Previous GC identifers: GC17U990158 GC17P046361 GC17P046493 GC17P043373 GC17P041387


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PNPO Gene:
The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal
5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both
homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result
in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. (provided by
RefSeq, Oct 2008)

GeneCards Summary for PNPO Gene:
PNPO (pyridoxamine 5'-phosphate oxidase) is a protein-coding gene. Diseases associated with PNPO include pyridoxal 5'-phosphate-dependent epilepsy, and pyridoxamine 5'-phosphate oxidase deficiency. GO annotations related to this gene include FMN binding and pyridoxamine-phosphate oxidase activity.

UniProtKB/Swiss-Prot: PNPO_HUMAN, Q9NVS9
Function: Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into
pyridoxal 5'-phosphate (PLP)

Gene Wiki entry for PNPO 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PNPO gene promoter:
         Max1   NF-1/L   NF-1   Spz1   E47   CREB   IRF-2   deltaCREB   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPNPO promoter sequence
   Search Chromatin IP Primers for PNPO

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PNPO


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

Entrez Gene cytogenetic band: 17q21.32   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21.32

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P046018:  view genomic region     (about GC identifiers)

Start:
46,018,872 bp from pter      End:
46,026,674 bp from pter
Size:
7,803 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PNPO_HUMAN, Q9NVS9 (See protein sequence)
Recommended Name: Pyridoxine-5'-phosphate oxidase  
Size: 261 amino acids; 29988 Da
Cofactor: Binds 1 FMN per subunit
Subunit: Homodimer
2 PDB 3D structures from and Proteopedia for PNPO:
1NRG (3D)        3HY8 (3D)    
Secondary accessions: D3DTT9

Explore the universe of human proteins at neXtProt for PNPO: NX_Q9NVS9

Explore proteomics data for PNPO at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for PNPO (Q9NVS9)
     RQVRVEG  LYPQVMEFWQGQTNRLHDRIVFRRGL 


    See PNPO Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060599.1  
    ENSEMBL proteins: 
     ENSP00000463919   ENSP00000463972   ENSP00000463520   ENSP00000399960   ENSP00000225573  
     ENSP00000462345   ENSP00000463994   ENSP00000446182   ENSP00000437480  
    Reactome Protein details: Q9NVS9

    PNPO Human Recombinant Protein Products:

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    Novus Biologicals PNPO Proteins
    Novus Biologicals PNPO Lysates
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    Cloud-Clone Corp. CLIAs for PNPO


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR012349 Split_barrel_FMN-bd
     IPR019576 Pyridoxamine_oxidase_dimer_C
     IPR019740 Pyridox_Oxase_CS
     IPR011576 Pyridox_Oxase_FMN-bd
     IPR000659 Pyridox_Oxase

    Graphical View of Domain Structure for InterPro Entry Q9NVS9

    ProtoNet protein and cluster: Q9NVS9

    2 Blocks protein domains:
    IPB000659 Pyridoxamine 5'-phosphate oxidase
    IPB011576 Pyridoxamine 5'-phosphate oxidase-related


    UniProtKB/Swiss-Prot: PNPO_HUMAN, Q9NVS9
    Similarity: Belongs to the pyridoxamine 5'-phosphate oxidase family


    PNPO 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PNPO_HUMAN, Q9NVS9
    Function: Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into
    pyridoxal 5'-phosphate (PLP)
    Catalytic activity: Pyridoxamine 5'-phosphate + H(2)O + O(2) = pyridoxal 5'-phosphate + NH(3) + H(2)O(2)
    Catalytic activity: Pyridoxine 5'-phosphate + O(2) = pyridoxal 5'-phosphate + H(2)O(2)

         Enzyme Number (IUBMB): EC 1.4.3.51 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004733pyridoxamine-phosphate oxidase activity TAS--
    GO:0010181FMN binding IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016638oxidoreductase activity, acting on the CH-NH2 group of donors ----
         
    PNPO for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PNPO:
     Decreased POU5F1-GFP protein e  Increased G1 DNA content  Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pnpo):
     cellular  mortality/aging 

    PNPO for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PNPO
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PNPO
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PNPO

    miRNA
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    miRTarBase miRNAs that target PNPO:
    hsa-mir-18a-5p (MIRT050711), hsa-mir-30a-5p (MIRT028520)

    Block miRNA regulation of human, mouse, rat PNPO using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PNPO (see all 11):
    hsa-miR-607 hsa-miR-3120-3p hsa-miR-545 hsa-miR-3921 hsa-miR-764 hsa-miR-3667-3p hsa-miR-221* hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidPNPO 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PNPO

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus4
    mitochondrion2
    chloroplast1
    cytoskeleton1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PNPO for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PNPO About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Vitamin B6 metabolism
    pyridoxal 5-phosphate salvage pathway0.00
    Vitamins B6 activation to pyridoxal phosphate0.00
    Vitamin B6 metabolism
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Metabolism of vitamins and cofactors1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    4Selenium Pathway
    Selenium Pathway
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PNPO
        Selenium Pathway
    pyridoxal 5-phosphate salvage pathway

    1 Reactome Pathway for PNPO
        Vitamins B6 activation to pyridoxal phosphate


    2 Kegg Pathways  (Kegg details for PNPO):
        Vitamin B6 metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PNPO_HUMAN, Q9NVS9
    Pathway: Cofactor biosynthesis; B6 vitamer interconversion; pyridoxal 5'-phosphate from pyridoxamine 5'-phosphate:
    step 1/1
    Pathway: Cofactor biosynthesis; B6 vitamer interconversion; pyridoxal 5'-phosphate from pyridoxine 5'-phosphate:
    step 1/1


    PNPO for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PNPO
    Interactions:

        Search GeneGlobe Interaction Network for PNPO

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for PNPO (ENSP000002255734) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AOX1ENSP000003638324STRING: ENSP00000363832
    PDXKENSP000002915654STRING: ENSP00000291565
    PDXPENSP000002159044STRING: ENSP00000215904
    PHOSPHO2ENSP000003527824STRING: ENSP00000352782
    ZC3H14ENSP000002510384STRING: ENSP00000251038
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0008615pyridoxine biosynthetic process IEA--
    GO:0042816vitamin B6 metabolic process TAS--
    GO:0042823pyridoxal phosphate biosynthetic process ----

    PNPO for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PNPO

    Selected HMDB Compounds for PNPO (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    Hydrogen peroxideHydrogen peroxide (see all 44)7722-84-1--
    OxygenOxygen (see all 5)7782-44-7--
    Pyridoxal3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde (see all 3)66-72-8--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Pyridoxamine2-methyl-4-aminomethyl-5-hydroxymethyl-3-Pyridinol (see all 5)85-87-0--
    Pyridoxamine 5'-phosphatePyridoxamine 5'-phosphate (see all 2)529-96-4--
    Pyridoxine2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine (see all 16)65-23-6--
    Pyridoxine 5'-phosphate5-Hydroxy-4-(hydroxymethyl)-6-methyl-3-pyridylmethyl dihydrogen phosphate (see all 11)447-05-2--

    4 DrugBank Compounds for PNPO    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor15772097 17216302 17032564 16538088 16207494
    Pyridoxine-5'-Phosphate-- 447-05-2enzyme--17531224 16336786 18256491 16466641
    Riboflavin Monophosphate-- 146-17-8target--17139284 17016423 10592235
    Beta-Mercaptoethanol-- 60-24-2target--17139284 17016423

    6 Novoseek inferred chemical compound relationships for PNPO gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyridoxine 5-phosphate 96.3 12 9601034 (2), 19523068 (1), 16207494 (1), 16949628 (1) (see all 8)
    pyridoxamine 5-phosphate 96.2 14 10024608 (2), 18024216 (2), 15772097 (2), 2058998 (1) (see all 10)
    pyridoxal 5-phosphate 86.2 25 18294893 (5), 19760909 (2), 16538088 (2), 10024608 (1) (see all 11)
    pyridoxal 79.7 6 10024608 (2), 16207494 (1), 1839316 (1), 15182361 (1)
    vitamin b6 77.5 13 19760909 (2), 10024608 (2), 16538088 (2), 18485777 (1) (see all 6)
    gaba 33.6 2 16207494 (1)



    PNPO for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PNPO gene: 
    NM_018129.3  

    Unigene Cluster for PNPO:

    Pyridoxamine 5'-phosphate oxidase
    Hs.631742  [show with all ESTs]
    Unigene Representative Sequence: NM_018129
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000583599 ENST00000584061 ENST00000583245 ENST00000434554 ENST00000225573(uc002imo.3 uc010wkz.2 uc010wla.2 uc010wlb.2)
    ENST00000585320 ENST00000582171 ENST00000584806 ENST00000544840 ENST00000534893

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    Selected qRT-PCR Assays for microRNAs that regulate PNPO (see all 11):
    hsa-miR-607 hsa-miR-3120-3p hsa-miR-545 hsa-miR-3921 hsa-miR-764 hsa-miR-3667-3p hsa-miR-221* hsa-miR-3154
    SwitchGear 3'UTR luciferase reporter plasmidPNPO 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: PNPO (NM_018129)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PNPO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PNPO
    Primer
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    OriGene qPCR primer pairs and template standards for PNPO
    OriGene qSTAR qPCR primer pairs in human, mouse for PNPO
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PNPO
      QuantiTect SYBR Green Assays in human, mouse, rat PNPO
      QuantiFast Probe-based Assays in human, mouse, rat PNPO

    Additional mRNA sequence: 

    AF468030.1 AK001397.1 AK223242.1 AK303536.1 AK303665.1 AK303792.1 BC006525.2 

    9 DOTS entries:

    DT.210239  DT.95103571  DT.87002415  DT.95372165  DT.100778625  DT.120921834  DT.95372166  DT.97855908 
    DT.120921840 

    Selected AceView cDNA sequences (see all 165):

    BM710209 BM701350 BP342856 AI201867 BQ687358 AI056816 BE297601 AF468030 
    BQ718350 CA455310 BQ882739 AI573243 BQ669058 BU527403 BQ933956 BQ689641 
    BU543411 BQ691112 AA477384 AW294053 BM671630 BU956879 BQ926028 BQ688380 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PNPO (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c
    SP1:                    -                       -                                                   
    SP2:                    -     -     -           -                                                   
    SP3:                    -                       -           -     -     -                           
    SP4:                    -     -                 -                                                   
    SP5:                    -                       -     -                                             


    ECgene alternative splicing isoforms for PNPO

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PNPO expression in normal human tissues (normalized intensities)      PNPO embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTGGTACC
    PNPO Expression
    About this image


    PNPO expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    PNPO Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PNPO Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631742
        Custom PCR Arrays for PNPO
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    QuantiFast Probe-based Assays in human, mouse, rat PNPO
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PNPO

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PNPO gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pnpo1 , 5 pyridoxine 5'-phosphate oxidase1, 5 89.02(n)1
    90.04(a)1
      11 (60.17 cM)5
    1037111  NM_134021.21  NP_598782.11 
     969378255 
    chicken
    (Gallus gallus)
    Aves PNPO1 pyridoxamine 5'-phosphate oxidase 74.79(n)
    78.85(a)
      100857383  XM_003643773.2  XP_003643821.2 
    lizard
    (Anolis carolinensis)
    Reptilia PNPO6
    pyridoxamine 5'-phosphate oxidase
    69(a)
    1 ↔ 1
    6(74755617-74761277)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.204172 Transcribed sequence with weak similarity to protein more 73.93(n)    137715396 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.149322 Danio rerio cDNA clone IMAGE6793210, partial cds 70.9(n)    BC057246.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG314721 CG31472 51.72(n)
    45.26(a)
      40925  NM_169194.3  NP_731186.2 
    worm
    (Caenorhabditis elegans)
    Secernentea F57B9.11 F57B9.1 52.62(n)
    46.76(a)
      175973  NM_066117.3  NP_498518.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PDX3(YBR035C)4
    PDX31
    Pyridoxine (pyridoxamine) phosphate oxidase, has homologs more4
    PDX31
    46.89(n)1
    41.15(a)1
      2(306955-306269)4
    8523231, 4  NP_009591.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PNPO (see all 137)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048946291,2,,4
    CPyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency)4 pathogenic147038840(+) ATGACC/TGGATA 2 R W mis10--------
    rs1048946311,2
    Cpathogenic147038939(+) CACCTC/TAACTC 2 Q * stop-lost0--------
    rs1447112171,2
    C--46021566(+) CTTTC-/GT/   
      GTGTGT
    GTGTG
    2 -- int1 cds10--------
    rs353125681,2
    C--46024805(+) TTTTT-/T/TT  
            
    ACTTA
    2 -- ut311NA 2
    rs1996346071,2
    C--46024900(+) TTTTT-/TGAGAT 1 -- ut310--------
    rs2018904681,2
    --47035620(+) TTTGGG/TTGGAT 1 -- int10--------
    rs1832964741,2
    C--47035622(+) TGGGTA/GGATAC 1 -- int10--------
    rs778680771,2
    C,F--47036049(+) GCCAGT/CGCTCT 1 -- int11Minor allele frequency- C:0.10WA 118
    rs1874758221,2
    --47036234(+) CAGGAA/GTTTAT 1 -- int10--------
    rs116577741,2
    C,F,H--47036297(+) ggtttC/Ttgatg 1 -- int15Minor allele frequency- T:0.00NS EA NA 422

    HapMap Linkage Disequilibrium report for PNPO (46018872 - 46026674 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PNPO:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1000014CNV Deletion20482838
    nsv518892CNV Loss19592680
    nsv908575CNV Loss21882294
    nsv2072CNV Loss18451855

    Human Gene Mutation Database (HGMD): PNPO
    Locus Specific Mutation Databases (LSDB): PNPO

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    (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.)
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    OMIM gene information: 603287   
    OMIM disorders: 610090  
    UniProtKB/Swiss-Prot: PNPO_HUMAN, Q9NVS9
  • Pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090]: The main feature of neonatal
    epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to
    anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to
    treatment with pyridoxine,. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for PNPO:    About MalaCards
    pyridoxal 5'-phosphate-dependent epilepsy    pyridoxamine 5'-phosphate oxidase deficiency    ariboflavinosis    hypophosphatasia
    seizure disorder    down syndrome    schizophrenia    tuberculosis
    hypertension    malaria    multiple myeloma    myeloma
    breast cancer

    1 disease from the University of Copenhagen DISEASES database for PNPO:
    Ariboflavinosis

    PNPO for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PNPO gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    encephalopathy 44.1 4 17216302 (2), 16538088 (1), 15772097 (1)

    Genetic Association Database (GAD): PNPO
    Human Genome Epidemiology (HuGE) Navigator: PNPO (2 documents)

    Export disorders for PNPO 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)
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    PubMed articles for PNPO gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with PNPO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. (PubMed id 15772097)1, 2, 7, 9 Mills P.B.... Clayton P.T. (Hum. Mol. Genet. 2005)
    2. Absence of pyridoxine-5'-phosphate oxidase (PNPO) activity in neoplastic cells: isolation, characterization, and expression of PNPO cDNA. (PubMed id 9601034)1, 3, 9 Ngo E.O....Nutter L.M. (Biochemistry 1998)
    3. Association between PNPO and schizophrenia in the Japanese population. (PubMed id 17851041)1, 4, 9 Song H....Ohmori T. (Schizophr. Res. 2007)
    4. Genomic organization, tissue distribution and deletion mutation of human pyridoxine 5'-phosphate oxidase. (PubMed id 15182361)1, 3, 9 Kang J.H....Kwon O.S. (Eur. J. Biochem. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. (Genome Res. 2004)
    7. Structure and properties of recombinant human pyridoxine 5'-phosphate oxidase. (PubMed id 12824491)1, 2 Musayev F.N.... Safo M.K. (Protein Sci. 2003)
    8. Age-dependent changes of pyridoxal phosphate synthesizing enzymes immunoreactivities and activities in the gerbil hippocampal CA1 region. (PubMed id 16207494)7, 9 Hwang I.K....Won M.H. (Mech. Ageing Dev. 2005)
    9. PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. (PubMed id 18485777)1, 9 Khayat M....Falik-Zaccai T.C. (Mol. Genet. Metab. 2008)
    10. Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. (PubMed id 17216302)7, 9 Hoffmann G.F....Zschocke J. (J. Inherit. Metab. Dis. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 55163 HGNC: 30260 AceView: PNPO Ensembl:ENSG00000108439 euGenes: HUgn55163
    ECgene: PNPO Kegg: 55163 H-InvDB: PNPO

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PNPO Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PNPO Genetics and Cytogenetics in Oncology and Haematology

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

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



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