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CPOX Gene

protein-coding   GIFtS: 66
GCID: GC03M098239

Coproporphyrinogen Oxidase

(Previous names: coproporphyrinogen oxidase (coproporphyria, harderoporphyria))
(Previous symbol: CPO)
  See CPOX-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
Coproporphyrinogen Oxidase1 2     coproporphyria1
CPO1 2 3     Coproporphyrinogen Oxidase (Coproporphyria, Harderoporphyria)1
Coprogen Oxidase2 3     HCP2
COX2 3     Coproporphyrinogen-III Oxidase, Mitochondrial2
CPX2 3     coproporphyrinogenase2
EC 1.3.3.33 8     Coproporphyrinogenase3

External Ids:    HGNC: 23211   Entrez Gene: 13712   Ensembl: ENSG000000808197   OMIM: 6127325   UniProtKB: P365513   

Export aliases for CPOX gene to outside databases

Previous GC identifers: GC03M099619 GC03M099780 GC03M098298 GC03M095670


(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 CPOX Gene:
The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is
soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative
decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are
a cause of hereditary coproporphyria (HCP).(provided by RefSeq, Oct 2009)

GeneCards Summary for CPOX Gene:
CPOX (coproporphyrinogen oxidase) is a protein-coding gene. Diseases associated with CPOX include harderoporphyria, and hereditary coproporphyria. GO annotations related to this gene include coproporphyrinogen oxidase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: HEM6_HUMAN, P36551
Function: Key enzyme in heme biosynthesis. Catalyzes the oxidative decarboxylation of propionic acid side chains
of rings A and B of coproporphyrinogen III

Gene Wiki entry for CPOX (Coproporphyrinogen III oxidase) 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_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPOX gene promoter:
         HFH-3   GATA-3   YY1   HEN1   AREB6   FOXI1   Max   Msx-1   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPOX promoter sequence
   Search Chromatin IP Primers for CPOX

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


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

Entrez Gene cytogenetic band: 3q12   Ensembl cytogenetic band:  3q12.1   HGNC cytogenetic band: 3q12

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M098239:  view genomic region     (about GC identifiers)

Start:
98,239,976 bp from pter      End:
98,312,567 bp from pter
Size:
72,592 bases      Orientation:
minus 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: HEM6_HUMAN, P36551 (See protein sequence)
Recommended Name: Coproporphyrinogen-III oxidase, mitochondrial precursor  
Size: 454 amino acids; 50152 Da
Subunit: Homodimer
Sequence caution: Sequence=BAA04033.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for CPOX:
2AEX (3D)    
Secondary accessions: A8K275 Q14060 Q53F08 Q8IZ45 Q96AF3

Explore the universe of human proteins at neXtProt for CPOX: NX_P36551

Explore proteomics data for CPOX at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys184
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CPOX (P36551) (see all 10)
     WCDDYFF  RGIGGIF  ARWEYMH  RYVEFNL 


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

    REFSEQ proteins: NP_000088.3  
    ENSEMBL proteins: 
     ENSP00000425880   ENSP00000264193   ENSP00000424924  
    Reactome Protein details: P36551

    CPOX Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CPOX
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    Novus Biologicals CPOX Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CPOX
    Cloud-Clone Corp. Proteins for CPOX

     
    Search eBioscience for Proteins for CPOX 

    CPOX Antibody Products:

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    LSBio Antibodies in human, mouse, rat for CPOX

    CPOX Assay Products:

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001260 Coprogen_oxidase_aer
     IPR018375 Coprogen_oxidase_CS

    Graphical View of Domain Structure for InterPro Entry P36551

    ProtoNet protein and cluster: P36551

    1 Blocks protein domain: IPB001260 Coproporphyrinogen III oxidase

    UniProtKB/Swiss-Prot: HEM6_HUMAN, P36551
    Similarity: Belongs to the aerobic coproporphyrinogen-III oxidase family


    Find genes that share domains with CPOX           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: HEM6_HUMAN, P36551
    Function: Key enzyme in heme biosynthesis. Catalyzes the oxidative decarboxylation of propionic acid side chains
    of rings A and B of coproporphyrinogen III
    Catalytic activity: Coproporphyrinogen-III + O(2) + 2 H(+) = protoporphyrinogen-IX + 2 CO(2) + 2 H(2)O

         Enzyme Number (IUBMB): EC 1.3.3.31 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004109coproporphyrinogen oxidase activity TAS--
    GO:0005212structural constituent of eye lens IEA--
    GO:0042802identical protein binding ----
    GO:0042803protein homodimerization activity IDA16176984
         
    Find genes that share ontologies with CPOX           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for CPOX:
     Cell cycle / mitosis defect  Increased S DNA content  Increased number of mitotic ce 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cpox):
     vision/eye 

    Find genes that share phenotypes with CPOX           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPOX
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CPOX

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target CPOX:
    hsa-mir-15b-5p (MIRT046519), hsa-mir-30a-5p (MIRT028461), hsa-mir-98-5p (MIRT027462), hsa-mir-30c-5p (MIRT047853), hsa-mir-124-3p (MIRT022424), hsa-mir-361-5p (MIRT020103), hsa-mir-1 (MIRT001374), hsa-mir-375 (MIRT019712), hsa-mir-937-3p (MIRT036635)

    Block miRNA regulation of human, mouse, rat CPOX using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CPOX (see all 13):
    hsa-miR-3163 hsa-miR-361-5p hsa-miR-130a* hsa-miR-3653 hsa-miR-216b hsa-miR-23c hsa-miR-4282 hsa-miR-890
    SwitchGear 3'UTR luciferase reporter plasmidCPOX 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CPOX

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CPOX (NM_000097)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPOX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPOX

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


    (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
    HEM6_HUMAN, P36551: Mitochondrion intermembrane space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005758mitochondrial intermembrane space TAS--

    Find genes that share ontologies with CPOX           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 CPOX 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 CPOX           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for CPOX
        Heme biosynthesis


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

    UniProtKB/Swiss-Prot: HEM6_HUMAN, P36551
    Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; protoporphyrinogen-IX from
    coproporphyrinogen-III (O2 route): step 1/1

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

        Search GeneGlobe Interaction Network for CPOX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CPOX (P365513 ENSP000002641934) via UniProtKB, MINT, STRING, and/or I2D (see all 111)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4HP628053, ENSP000002893524I2D: score=3 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=3 STRING: ENSP00000366974
    HIST1H4AP628053I2D: score=3 
    HIST1H4BP628053I2D: score=3 
    HIST1H4CP628053I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006779porphyrin-containing compound biosynthetic process ----
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--
    GO:0010035response to inorganic substance ----

    Find genes that share ontologies with CPOX           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 CPOX (HEM6)

    9 HMDB Compounds for CPOX    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coproporphyrin III 14643-66-4--
    Coproporphyrinogen III3,8,13,17-tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropanoate (see all 9)2624-63-7--
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    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 CPOX gene (see all 64)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    harderoporphyrinogen 91.8 2 17242372 (1)
    protoporphyrinogen 86.3 22 12196143 (2), 19339664 (2), 11248690 (1), 8955072 (1) (see all 13)
    coprogen 82.9 5 16460507 (2), 16084099 (1), 11374994 (1), 8286403 (1)
    prostaglandin 74.2 35 10811855 (2), 16140261 (2), 10651981 (1), 17851120 (1) (see all 24)
    porphyrinogen 73.6 2 11909722 (1), 16061377 (1)
    uroporphyrinogen-iii 72 4 19289130 (1), 8949908 (1), 8621830 (1)
    porphyrin 69.6 14 9298818 (1), 16343843 (1), 19447864 (1), 9674964 (1) (see all 9)
    celecoxib 69.1 5 19201774 (2), 20233202 (1), 14762100 (1), 11336575 (1)
    porphobilinogen 68.8 7 8024730 (3), 8949908 (1), 10787385 (1)
    arachidonic acid 66.1 29 15308583 (2), 8153084 (1), 11230753 (1), 16918423 (1) (see all 23)



    Find genes that share compounds with CPOX           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 CPOX gene: 
    NM_000097.5  

    Unigene Cluster for CPOX:

    Coproporphyrinogen oxidase
    Hs.476982  [show with all ESTs]
    Unigene Representative Sequence: NM_000097
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000512905 ENST00000264193(uc003dsx.3) ENST00000510489 ENST00000513674
    ENST00000515041(uc011bgz.2)
    miRNA
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    hsa-miR-3163 hsa-miR-361-5p hsa-miR-130a* hsa-miR-3653 hsa-miR-216b hsa-miR-23c hsa-miR-4282 hsa-miR-890
    SwitchGear 3'UTR luciferase reporter plasmidCPOX 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CPOX
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CPOX (NM_000097)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPOX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPOX
    Primer
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    OriGene qPCR primer pairs and template standards for CPOX
    OriGene qSTAR qPCR primer pairs in human, mouse for CPOX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPOX
      QuantiTect SYBR Green Assays in human, mouse, rat CPOX
      QuantiFast Probe-based Assays in human, mouse, rat CPOX

    Additional mRNA sequence: 

    AK223481.1 AK290140.1 AK299692.1 BC017210.2 BC023551.2 BC023554.2 BX648974.1 D16611.1 
    Z28409.1 

    10 DOTS entries:

    DT.314896  DT.120889704  DT.100785680  DT.100785681  DT.97842703  DT.120889699  DT.91750697  DT.91750696 
    DT.92061291  DT.99969577 

    Selected AceView cDNA sequences (see all 135):

    BM971248 AV646122 BG107995 W80532 AA700808 BU624260 BM853610 BU170210 
    BF733155 N90153 H28785 NM_000097 BF431018 BQ025229 AL043660 AV653084 
    BX494840 AL709894 BU680356 BI757091 CK820489 BG505658 BU069856 BM310222 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CPOX    About this scheme

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


    ECgene alternative splicing isoforms for CPOX

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


    CPOX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    CPOX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPOX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476982
        Custom PCR Arrays for CPOX
    Primer
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    OriGene qPCR primer pairs and template standards for CPOX
    OriGene qSTAR qPCR primer pairs in human, mouse for CPOX
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    QuantiTect SYBR Green Assays in human, mouse, rat CPOX
    QuantiFast Probe-based Assays in human, mouse, rat CPOX
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPOX

    (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 CPOX gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpox1 , 5 coproporphyrinogen oxidase1, 5 83.41(n)1
    81.9(a)1
      16 (34.80 cM)5
    128921  NM_007757.21  NP_031783.21 
     586702085 
    chicken
    (Gallus gallus)
    Aves CPOX1 coproporphyrinogen oxidase 73.67(n)
    76.33(a)
      418377  XM_416596.4  XP_416596.1 
    lizard
    (Anolis carolinensis)
    Reptilia CPOX6
    coproporphyrinogen oxidase
    85(a)
    1 ↔ 1
    3(175006051-175015589)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cpox1 coproporphyrinogen oxidase 69.57(n)
    73.35(a)
      100145617  XM_002933069.2  XP_002933115.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570498112   -- 79.53(n)   321294  57049811 
    fruit fly
    (Drosophila melanogaster)
    Insecta Coprox1 Coproporphyrinogen oxidase 60.2(n)
    63.16(a)
      44701  NM_080038.4  NP_524777.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM13(YDR044W)4
    HEM131
    Coproporphyrinogen III oxidase, an oxygen requiring enzyme that catalyzes the sixth step in the heme biosynthetic pathway; transcription is repressed by oxygen and heme (via Rox1p and Hap1p) less4
    HEM131
    54.97(n)1
    55.41(a)1
      4(546642-547628)4
    8516141, 4  NP_010329.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons LIN21 LIN2 52.7(n)
    51.89(a)
      839489  NM_100230.6  NP_171847.4 
    rice
    (Oryza sativa)
    Liliopsida Os.179192 Oryza sativa (japonica cultivar-group) isolate 23485 coproporphyrinogen III oxidase mRNA, partial cds less 73.97(n)    AK070391.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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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 CPOX (see all 452)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289316031,2,,4
    CHereditary coproporphyria (HCP)4 pathogenic198276326(-) TTCTAC/TGCCAT 2 R C mis1 ese30--------
    VAR_0021534
    Hereditary coproporphyria (HCP)4--see VAR_0021532 G W mis40--------
    VAR_0021624
    Hereditary coproporphyria (HCP)4--see VAR_0021622 K E mis40--------
    VAR_0021594
    Hereditary coproporphyria (HCP)4--see VAR_0021592 H D mis40--------
    VAR_0234464
    Hereditary coproporphyria (HCP)4--see VAR_0234462 P R mis40--------
    rs289294871,2,4
    Hereditary coproporphyria (HCP)4--see VAR_0190682 mis40--------
    VAR_0234444
    Hereditary coproporphyria (HCP)4--see VAR_0234442 V A mis40--------
    VAR_0234454
    Hereditary coproporphyria (HCP)4--see VAR_0234452 L R mis40--------
    VAR_0021604
    Hereditary coproporphyria (HCP)4--see VAR_0021602 R W mis40--------
    VAR_0021544
    Hereditary coproporphyria (HCP)4--see VAR_0021542 E K mis40--------

    HapMap Linkage Disequilibrium report for CPOX (98239976 - 98312567 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CPOX:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv293n21CNV Loss19592680
    nsv834775CNV Gain17160897

    Human Gene Mutation Database (HGMD): CPOX
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CPOX
    DNA2.0 Custom Variant and Variant Library Synthesis for CPOX

    (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: 612732   
    OMIM disorders: 121300  
    UniProtKB/Swiss-Prot: HEM6_HUMAN, P36551
  • Hereditary coproporphyria (HCP) [MIM:121300]: 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. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin
    photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks
    are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary
    coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the
    feces. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for CPOX:    
    About MalaCards
    harderoporphyria    hereditary coproporphyria    prostate disease    ovarian epithelial cancer
    xeroderma pigmentosum, group a    kearns-sayre syndrome    acute hepatic porphyria    congenital erythropoietic porphyria
    variegate porphyria    erythropoietic protoporphyria    portal hypertension    porphyria
    acute porphyria    acute intermittent porphyria    merrf syndrome    melas syndrome

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

    Find genes that share disorders with CPOX           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CPOX gene (see all 44)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coproporphyria hereditary 96.5 40 7592568 (2), 9843038 (2), 16176984 (2), 8012360 (2) (see all 26)
    porphyria hepatic 84.5 6 9454777 (2), 16159891 (1), 8024730 (1), 7757079 (1) (see all 5)
    coproporphyria 78.2 1 10899392 (1)
    porphyria 74.4 6 16398658 (2), 7592568 (1), 14669009 (1)
    porphyria variegate 68.6 2 14669009 (1)
    mitochondrial encephalomyopathies 65 3 10637838 (2), 8064325 (1)
    porphyria acute intermittent 64.2 3 14669009 (1), 19460837 (1)
    oxidase deficiency 57 2 11929047 (1), 8621830 (1)
    leigh syndrome 56.8 8 19579665 (2), 7502989 (1), 19772191 (1)
    mitochondrial myopathies 52.7 1 10980727 (1)

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

    Export disorders for CPOX 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 CPOX gene, integrated from 10 sources (see all 266):
    (articles sorted by number of sources associating them with CPOX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. (PubMed id 7757079)1, 2, 3, 9 Lamoril J....Nordmann Y. (Hum. Mol. Genet. 1995)
    2. Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria. (PubMed id 7849704)1, 2, 9 Fujita H.... Sassa S. (Hum. Mol. Genet. 1994)
    3. Structural basis of hereditary coproporphyria. (PubMed id 16176984)1, 2, 9 Lee D.-S....Raman C.S. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    4. The long, but not the short, presequence of human coproporphyrinogen oxidase is essential for its import and sorting to mitochondria. (PubMed id 12862310)1, 2, 9 Susa S.... Kato T. (Tohoku J. Exp. Med. 2003)
    5. Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. (PubMed id 8012360)1, 2, 9 Martasek P.... Grandchamp B. (Hum. Mol. Genet. 1994)
    6. Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase. (PubMed id 8159699)1, 2, 9 Martasek P.... Grandchamp B. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    7. Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. (PubMed id 9888388)1, 2, 9 Rosipal R.... Deybach J.-C. (Hum. Mutat. 1999)
    8. The association between a genetic polymorphism of coproporphyrinogen oxidase, dental mercury exposure and neurobehavioral response in humans. (PubMed id 16343843)1, 4, 9 Echeverria D....Garabedian C.E. (Neurotoxicol Teratol 2006)
    9. Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria. (PubMed id 12181641)1, 2, 9 Wiman A.... Harper P. (J. Hum. Genet. 2002)
    10. Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase. (PubMed id 8286403)1, 2, 9 Taketani S.... Tokunaga R. (Biochim. Biophys. Acta 1994)

    (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: 1371 HGNC: 2321 AceView: CPOX Ensembl:ENSG00000080819 euGenes: HUgn1371
    ECgene: CPOX Kegg: 1371 H-InvDB: CPOX

    (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 CPOX Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CPOX[genesymbol]

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

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



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