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PPOX Gene

protein-coding   GIFtS: 64
GCID: GC01P161136

Protoporphyrinogen Oxidase

(Previous name: variegate porphyria)
(Previous symbol: VP)
  See PPOX-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
Protoporphyrinogen Oxidase1 2
VP1 2
PPO2 3
Variegate Porphyria1
V290M2
EC 1.3.3.43

External Ids:    HGNC: 92801   Entrez Gene: 54982   Ensembl: ENSG000001432247   OMIM: 6009235   UniProtKB: P503363   

Export aliases for PPOX gene to outside databases

Previous GC identifers: GC01P158847 GC01P156868 GC01P157914 GC01P158352 GC01P157949 GC01P159402 GC01P132493


(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 PPOX Gene:
This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of
protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal
dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located
on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have
been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for PPOX Gene:
PPOX (protoporphyrinogen oxidase) is a protein-coding gene. Diseases associated with PPOX include variegate porphyria, and porphyria. GO annotations related to this gene include oxygen-dependent protoporphyrinogen oxidase activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
Function: Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX

Gene Wiki entry for PPOX 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 at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PPOX gene promoter:
         CREB   p53   AP-1   deltaCREB   ATF-2   c-Jun   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPOX promoter sequence
   Search Chromatin IP Primers for PPOX

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


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

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q22

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P161136:  view genomic region     (about GC identifiers)

Start:
161,136,181 bp from pter      End:
161,147,803 bp from pter
Size:
11,623 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336 (See protein sequence)
Recommended Name: Protoporphyrinogen oxidase  
Size: 477 amino acids; 50765 Da
Cofactor: Binds 1 FAD per subunit
Subunit: Monomer. Homodimer
3 PDB 3D structures from and Proteopedia for PPOX:
3NKS (3D)        4IVM (3D)        4IVO (3D)    
Secondary accessions: D3DVG0 Q5VTW8

Explore the universe of human proteins at neXtProt for PPOX: NX_P50336

Explore proteomics data for PPOX at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PPOX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000300.1  NP_001116236.1  

    ENSEMBL proteins: 
     ENSP00000343943   ENSP00000356978   ENSP00000439613   ENSP00000444216   ENSP00000443769  
     ENSP00000439544   ENSP00000438136   ENSP00000396841  
    Reactome Protein details: P50336

    PPOX Human Recombinant Protein Products:

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    Novus Biologicals PPOX Proteins
    Novus Biologicals PPOX Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for PPOX

     
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    Cloud-Clone Corp. ELISAs for PPOX
    Cloud-Clone Corp. CLIAs for PPOX
    Search eBioscience for ELISAs for PPOX 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR027418 Protoporphyrinogen_oxidase_C
     IPR002937 Amino_oxidase
     IPR016040 NAD(P)-bd_dom
     IPR004572 Protoporphyrinogen_oxidase

    Graphical View of Domain Structure for InterPro Entry P50336

    ProtoNet protein and cluster: P50336

    UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
    Similarity: Belongs to the protoporphyrinogen oxidase family


    Find genes that share domains with PPOX           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PPOX_HUMAN, P50336
    Function: Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX
    Catalytic activity: Protoporphyrinogen-IX + 3 O(2) = protoporphyrin-IX + 3 H(2)O(2)

         Genatlas biochemistry entry for PPOX:
    protoporphyrinogen oxidase,catalyzing protoporphyrin formation,seventh step of porphyrin biosynthesis

         Enzyme Number (IUBMB): EC 1.3.3.41

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004729oxygen-dependent protoporphyrinogen oxidase activity TAS--
    GO:0016491oxidoreductase activity ----
    GO:0050660flavin adenine dinucleotide binding TAS7713909
         
    Find genes that share ontologies with PPOX           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PPOX:
     Decreased POU5F1-GFP protein e  Small cells 

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

    miRNA
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    miRTarBase miRNAs that target PPOX:
    hsa-mir-30a-5p (MIRT028501)

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PPOX

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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PPOX (NM_000309)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PPOX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PPOX

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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 UniProtKB/Swiss-Prot
    PPOX_HUMAN, P50336: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    chloroplast2
    extracellular2
    cytosol1
    lysosome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005758mitochondrial intermembrane space TAS--
    GO:0031304intrinsic component of mitochondrial inner membrane ISS--
    GO:0031305integral component of mitochondrial inner membrane IEA--
    GO:0031966mitochondrial membrane IMP7713909

    Find genes that share ontologies with PPOX           About GenesLikeMe


    (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 PPOX About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    Heme Biosynthesis0.00
    Porphyrin and chlorophyll metabolism0.56
    heme biosynthesis from uroporphyrinogen-III I0.00
    heme biosynthesis0.00
    Heme biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38


    Find genes that share SuperPaths with PPOX           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for PPOX
        Heme Biosynthesis
    heme biosynthesis from uroporphyrinogen-III I
    heme biosynthesis

    1 Reactome Pathway for PPOX
        Heme biosynthesis


    2 Kegg Pathways  (Kegg details for PPOX):
        Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
    Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; protoporphyrin-IX from
    protoporphyrinogen-IX: step 1/1

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

        GeneGlobe Interaction Network for PPOX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for PPOX (P503362, 3 ENSP000003439434) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    IMMTQ168912, 3MINT-63810 I2D: score=5 
    HAP1P542572, 3MINT-63809 I2D: score=4 
    COPS5Q929053, ENSP000003505124I2D: score=2 STRING: ENSP00000350512
    ATP5A1P257053, ENSP000002820504I2D: score=1 STRING: ENSP00000282050
    FECHP228303, ENSP000003723264I2D: score=1 STRING: ENSP00000372326
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006779porphyrin-containing compound biosynthetic process IDA7713909
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--
    GO:0042493response to drug IEA--

    Find genes that share ontologies with PPOX           About GenesLikeMe



    (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 PPOX

    8 HMDB Compounds for PPOX    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    IronArmco iron (see all 19)7439-89-6--
    OxygenOxygen (see all 5)7782-44-7--
    Protoporphyrin IX3,3'-(3,7,12,17-tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionate (see all 11)553-12-8--
    Protoporphyrinogen IX5,10,15,20,22,24-hexahydro protoporphyrin IX deriv. (see all 8)7412-77-3--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for PPOX gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protoporphyrinogen 99.3 237 8621563 (5), 9784236 (4), 1939451 (4), 8771201 (3) (see all 99)
    acifluorfen 94.1 14 7697001 (2), 15815918 (2), 7713909 (1), 9784236 (1) (see all 6)
    protoporphyrin ix 85.6 17 7682572 (2), 8621563 (1), 8771201 (1), 11156608 (1) (see all 12)
    hydroxymethylbilane 79.8 5 14669009 (1), 12699245 (1)
    porphobilinogen 78.2 5 19087719 (1), 8340112 (1), 11800145 (1)
    uroporphyrinogen-iii 77.9 7 17364814 (2), 19289130 (1), 15660919 (1)
    haem 76.5 14 15057273 (2), 2189794 (1), 12859407 (1), 11350188 (1) (see all 9)
    5-aminolevulinic acid 72.6 7 17725098 (1), 19289130 (1), 10432190 (1), 19389274 (1) (see all 5)
    porphyrin 72.1 3 2317449 (1), 14976149 (1), 16039600 (1)
    diphenyl ether 69.7 7 8621563 (2), 7922145 (2), 7697001 (1), 9784236 (1) (see all 5)



    Find genes that share compounds with PPOX           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PPOX gene (2 alternative transcripts): 
    NM_000309.3  NM_001122764.1  

    Unigene Cluster for PPOX:

    Protoporphyrinogen oxidase
    Hs.517373  [show with all ESTs]
    Unigene Representative Sequence: BM450121
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000352210(uc001fyg.2) ENST00000367999(uc001fyj.2 uc010pkg.1)
    ENST00000497522 ENST00000479246 ENST00000470607 ENST00000539753 ENST00000544598
    ENST00000495483(uc001fyi.2 uc010pkh.1) ENST00000468968 ENST00000535223
    ENST00000490768 ENST00000462866 ENST00000494216 ENST00000462977 ENST00000460611
    ENST00000537523 ENST00000541818 ENST00000537829
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): PPOX (NM_000309)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PPOX
    Primer
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    OriGene qPCR primer pairs and template standards for PPOX
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      QuantiTect SYBR Green Assays in human, mouse, rat PPOX
      QuantiFast Probe-based Assays in human, mouse, rat PPOX

    Additional mRNA sequence: 

    AK298912.1 AK302298.1 BC002357.2 D38537.1 U26446.1 

    Selected DOTS entries (see all 25):

    DT.100657692  DT.441155  DT.100867038  DT.100846935  DT.100871716  DT.95376135  DT.100026114  DT.102832851 
    DT.121390966  DT.97842095  DT.97842096  DT.100657691  DT.100709155  DT.121390976  DT.121391023  DT.121391127 
    DT.86854951  DT.91741656  DT.91741661  DT.91884791  DT.95376129  DT.97842097  DT.100682724  DT.102832849 

    Selected AceView cDNA sequences (see all 146):

    AI754752 AW296956 AL557898 BU632409 BX401556 CA426630 CD171898 CR606372 
    CR618454 AA151248 CA431400 CR595368 AI357308 CR623976 CA312491 BQ182270 
    AW340283 BM677610 BU193128 CR609680 CB116864 CA415890 BF509343 CR594122 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PPOX (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
    SP1:                                                  -                             -     -     -                                                               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                          -                                 
    SP4:                                                                                                                                                            
    SP5:                                                  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -         

    ExUns: 15 ^ 16a · 16b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for PPOX

    (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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    PPOX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATAAAAA
    PPOX Expression
    About this image


    PPOX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Neural Tube (Nervous System)
             Metencephalon
    PPOX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPOX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517373

    UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
    Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas

        Custom PCR Arrays for PPOX
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    QuantiTect SYBR Green Assays in human, mouse, rat PPOX
    QuantiFast Probe-based Assays in human, mouse, rat PPOX
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPOX

    (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 eukaryotes.

    Orthologs for PPOX gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppox1 , 5 protoporphyrinogen oxidase1, 5 85.53(n)1
    88.68(a)1
      1 (79.30 cM)5
    190441  NM_008911.21  NP_032937.11 
     1712759905 
    lizard
    (Anolis carolinensis)
    Reptilia PPOX6
    protoporphyrinogen oxidase
    52(a)
    1 ↔ 1
    GL343781.1(55211-75686)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.249542 Xenopus laevis transcribed sequence with weak similarity more 73.29(n)    BQ732637.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ppox1 protoporphyrinogen oxidase 56.31(n)
    54.47(a)
      664750  NM_001039979.1  NP_001035068.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta protoporphyrinogen-oxidase3
    Ppox1
    protoporphyrinogen oxidase3
    Protoporphyrinogen oxidase1
    36(a)3
    44.93(n)1
    38.95(a)1
      96A143
    429391  NM_143021.31  NP_651278.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM14(YER014W)4
    HEM141
    Protoporphyrinogen oxidase, a mitochondrial enzyme more4
    HEM141
    40.71(n)1
    27.98(a)1
      5(182600-184219)4
    8567331, 4  NP_010930.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PPOX1 PPOX 43.34(n)
    32.56(a)
      827991  NM_116399.3  NP_192078.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g02866001 Os01g0286600 42.22(n)
    32.41(a)
      4327918  NM_001049312.1  NP_001042777.1 


    ENSEMBL Gene Tree for PPOX (if available)
    TreeFam Gene Tree for PPOX (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 PPOX (see all 262)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0704184
    Variegate porphyria (VP)4--see VAR_0704182 S P mis40--------
    VAR_0703994
    Variegate porphyria (VP)4--see VAR_0703992 G E mis40--------
    VAR_0703924
    Variegate porphyria (VP)4--see VAR_0703922 R P mis40--------
    VAR_0704194
    Variegate porphyria (VP)4--see VAR_0704192 G R mis40--------
    VAR_0703864
    Variegate porphyria (VP)4--see VAR_0703862 G R mis40--------
    VAR_0703774
    Variegate porphyria (VP)4--see VAR_0703772 G S mis40--------
    VAR_0036864
    Variegate porphyria (VP)4--see VAR_0036862 R W mis40--------
    VAR_0704174
    Variegate porphyria (VP)4--see VAR_0704172 D A mis40--------
    VAR_0704264
    Variegate porphyria (VP)4--see VAR_0704262 G R mis40--------
    VAR_0704054
    Variegate porphyria (VP)4--see VAR_0704052 W R mis40--------

    HapMap Linkage Disequilibrium report for PPOX (161136181 - 161147803 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PPOX: --
    Human Gene Mutation Database (HGMD): PPOX
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PPOX
    DNA2.0 Custom Variant and Variant Library Synthesis for PPOX

    (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.)
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    OMIM gene information: 600923   
    OMIM disorders: 176200  
    UniProtKB/Swiss-Prot: PPOX_HUMAN, P50336
  • Variegate porphyria (VP) [MIM:176200]: A form of porphyria. Porphyrias are inherited defects in the
    biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin
    precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs
    in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It
    is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and
    neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins
    and iron overload are typical markers of the disease. Note=The disease is caused by mutations affecting the gene
    represented in this entry. Mutations leading to severe PPOX deficiency cause the rare homozygous variant form of
    VP. Missense mutations that preserve 10%-25% of wild-type activity may not cause clinically overt VP in
    heterozygotes (PubMed:9811936). Mutations with intermediate effect on catalytic activity may cause VP, but with a
    low clinical penetrance (PubMed:10486317)

  • 8 diseases for PPOX:    
    About MalaCards
    variegate porphyria    porphyria    acute porphyria    erythropoietic protoporphyria
    acute hepatic porphyria    hereditary coproporphyria    acute intermittent porphyria    porphyria cutanea tarda

    5 diseases from the University of Copenhagen DISEASES database for PPOX:
    Variegate porphyria     Acute intermittent porphyria     Hereditary coproporphyria     Erythropoietic protoporphyria
    Porphyria cutanea tarda

    Find genes that share disorders with PPOX           About GenesLikeMe

    Selected Novoseek inferred disease relationships for PPOX gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    porphyria variegate 98.9 98 19389274 (3), 9074790 (2), 9811936 (2), 9778454 (2) (see all 60)
    porphyria hepatic 90.3 14 9738863 (1), 7586575 (1), 10343202 (1), 9763307 (1) (see all 8)
    porphyria 88.1 10 16947091 (1), 14669009 (1), 19284797 (1), 8340112 (1) (see all 6)
    porphyria acute intermittent 85.9 8 18570668 (1), 12899439 (1), 14669009 (1), 19460837 (1) (see all 6)
    coproporphyria hereditary 79.1 2 14669009 (1)
    protoporphyria erythropoietic 60.4 1 12699245 (1)
    porphyria cutanea tarda 42 1 12699245 (1)
    enzyme deficiency 37.6 1 8340112 (1)
    metabolic disorder 16.6 2 11202052 (1), 12357337 (1)
    skin lesion 13.9 1 8634714 (1)

    Genetic Association Database (GAD): PPOX
    Human Genome Epidemiology (HuGE) Navigator: PPOX (12 documents)

    Export disorders for PPOX 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 PPOX gene, integrated from 10 sources (see all 143):
    (articles sorted by number of sources associating them with PPOX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. (PubMed id 7713909)1, 2, 9 Nishimura K.... Inokuchi H. (J. Biol. Chem. 1995)
    2. Molecular characterization of homozygous variegate porphyria. (PubMed id 9811936)1, 2, 9 Roberts A.G....Elder G.H. (Hum. Mol. Genet. 1998)
    3. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. (PubMed id 10486317)1, 2, 9 Whatley S.D....Deybach J.C. (Am. J. Hum. Genet. 1999)
    4. The genetic basis of 'Scarsdale Gourmet Diet' variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. (PubMed id 9763307)1, 2, 9 Frank J.... Christiano A.M. (Arch. Dermatol. Res. 1998)
    5. Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene. (PubMed id 8806618)1, 2, 9 Puy H.... Deybach J.-C. (Biochem. Biophys. Res. Commun. 1996)
    6. The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. (PubMed id 8575762)1, 3, 9 Taketani S....Inokuchi H. (Genomics 1995)
    7. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. (PubMed id 8852667)1, 2, 9 Deybach J.-C.... Nordmann Y. (Hum. Mol. Genet. 1996)
    8. Mitochondrial targeting of human protoporphyrinogen oxidase. (PubMed id 16621625)1, 2, 9 Davids L.M....Meissner P.N. (Cell Biol. Int. 2006)
    9. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. (PubMed id 14669009)1, 2, 9 Gouya L.... Deybach J.-C. (Hum. Genet. 2004)
    10. Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases. (PubMed id 12922165)1, 2, 9 Maneli M.H....Meissner P.N. (Biochim. Biophys. Acta 2003)

    (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: 5498 HGNC: 9280 AceView: PPOX Ensembl:ENSG00000143224 euGenes: HUgn5498
    ECgene: PPOX Kegg: 5498 H-InvDB: PPOX

    (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 PPOX Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PPOX[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Protoporphyrinogen_oxidase

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

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



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