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    CPOX coproporphyrinogen oxidase [ Homo sapiens (human) ]

    Gene ID: 1371, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CPOXprovided by HGNC
    Official Full Name
    coproporphyrinogen oxidaseprovided by HGNC
    Primary source
    HGNC:HGNC:2321
    See related
    Ensembl:ENSG00000080819 MIM:612732; AllianceGenome:HGNC:2321
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COX; CPO; CPX; HCP; HARPO
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 5.0), liver (RPKM 3.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CPOX in Genome Data Viewer
    Location:
    3q11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (98570488..98593611, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (101272112..101297297, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (98298290..98312455, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr3:98247209-98247752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14557 Neighboring gene RPL38 pseudogene 4 Neighboring gene G protein-coupled receptor 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20138 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:98274627-98275826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20144 Neighboring gene ribosomal protein L19 pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 220 Neighboring gene WW domain containing E3 ubiquitin protein ligase 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria. Kim DH, et al. J Biochem, 2013 Dec. PMID 24078084
    2. Hereditary Coproporphyria. Adam MP, et al. , 1993. PMID 23236641
    3. Modification of neurobehavioral effects of mercury by a genetic polymorphism of coproporphyrinogen oxidase in children. Woods JS, et al. Neurotoxicol Teratol, 2012 Sep-Oct. PMID 22765978, Free PMC Article
    4. Normal and abnormal heme biosynthesis. Part 7. Synthesis and metabolism of coproporphyrinogen-III analogues with acetate or butyrate side chains on rings C and D. Development of a modified model for the active site of coproporphyrinogen oxidase. Lash TD, et al. Bioorg Med Chem, 2011 Feb 15. PMID 21277781
    5. Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. Barbaro M, et al. Clin Genet, 2012 Mar. PMID 21231929

    See all (76) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels.
      Title: TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels.
    2. Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 29 unrelated Hereditary Coproporphyria individuals with 11 previously unreported CPOX mutations.
      Title: Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
    3. The monomer form of mutated CPOX did not show any activity and homodimeric enzymes derived from Hereditary coproporphyria (HCP) mutant showed low activity (<20% of the control).
      Title: The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria.
    4. Polymorphism of coproporphyrinogen oxidase is associated with genetic susceptibility to the adverse neurobehavioral effects of Hg exposure in children.
      Title: Modification of neurobehavioral effects of mercury by a genetic polymorphism of coproporphyrinogen oxidase in children.
    5. Deletion of the fifth exon in the CPOX gene is associated with hereditary coproporphyria.
      Title: Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.
    6. CPOX polymorphisms are associated with biological media contamination and apoptosis disorders.
      Title: [Polymorphism of TNF gene and CPOX gene in chemical industry workers].
    7. competitive action of both uroporphyrinogen decarboxylase and CPO on the same diacetate porphyrinogen substrate provides additional perspectives on the potential existence of abnormal pathways for heme biosynthesis
      Title: Normal and abnormal heme biosynthesis. Part 7. Synthesis and metabolism of coproporphyrinogen-III analogues with acetate or butyrate side chains on rings C and D. Development of a modified model for the active site of coproporphyrinogen oxidase.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    9. biochemical & kinetic properties of CPOX4, the product of a polymorphism of the CPOX gene that modifies effects of mercury on neurobehavioral function; suggests CPOX4 may predispose to impaired heme biosynthesis which is limited further by Hg exposure
      Title: Cloning, expression, and biochemical properties of CPOX4, a genetic variant of coproporphyrinogen oxidase that affects susceptibility to mercury toxicity in humans.
    10. Three of the novel missense mutations and one frameshift mutation was detected in coproporphyrinogen III oxidase (CPO) gene in five Italian patients affected by Hereditary Coproporphyria (HCP).
      Title: Four novel mutations of the coproporphyrinogen III oxidase gene.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Harderoporphyria
    MedGen: C0342859 OMIM: 618892 GeneReviews: Not available
    		Compare labs
    Hereditary coproporphyria
    MedGen: C0162531 OMIM: 121300 GeneReviews: Hereditary Coproporphyria
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables coproporphyrinogen oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables coproporphyrinogen oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural constituent of eye lens IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in heme A biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heme B biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heme O biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heme biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protoporphyrinogen IX biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
    Names
    coprogen oxidase
    coproporphyrinogenase
    homozygous coproporphyria
    NP_000088.3
    XP_005247182.1
    XP_047303429.1
    XP_047303430.1
    XP_047303431.1
    XP_054201278.1
    XP_054201279.1
    XP_054201280.1
    XP_054201281.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015994.2 RefSeqGene

      Range
      5001..19166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1077

    mRNA and Protein(s)

    1. NM_000097.7 → NP_000088.3  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_000088.3

      Status: REVIEWED

      Source sequence(s)
      AK290140, BC017210, BC023551
      Consensus CDS
      CCDS2932.1
      UniProtKB/Swiss-Prot
      A8K275, B4DSD5, P36551, Q14060, Q53F08, Q8IZ45, Q96AF3
      Related
      ENSP00000497326.1, ENST00000647941.2
      Conserved Domains (1) summary
      pfam01218
      Location:151 → 453
      Coprogen_oxidas; Coproporphyrinogen III oxidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      98570488..98593611 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247125.5 → XP_005247182.1  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam01218
      Location:151 → 391
      Coprogen_oxidas; Coproporphyrinogen III oxidase

    2. XM_047447473.1 → XP_047303429.1  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial isoform X2

    3. XM_047447475.1 → XP_047303431.1  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial isoform X4

    4. XM_047447474.1 → XP_047303430.1  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial isoform X3

      Related
      ENST00000515041.1

    RNA

    1. XR_001740025.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      101272112..101297297 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345303.1 → XP_054201278.1  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial isoform X1

    2. XM_054345304.1 → XP_054201279.1  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial isoform X2

    3. XM_054345306.1 → XP_054201281.1  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial isoform X4

    4. XM_054345305.1 → XP_054201280.1  oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial isoform X3

    RNA

    1. XR_008486662.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36551.3 GenPept UniProtKB/Swiss-Prot:P36551

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