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CPOX coproporphyrinogen oxidase [ Homo sapiens (human) ]

Gene ID: 1371, updated on 2-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (98570488..98593611, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (101272112..101297297, complement)
RS_2024_09 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 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. 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
  2. Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family. Susa S, et al. Am J Med Genet, 1998 Nov 16. PMID 9843038
  3. Expression of coproporphyrinogen oxidase and synthesis of hemoglobin in human erythroleukemia K562 cells. Taketani S, et al. Eur J Biochem, 2001 Mar. PMID 11248690
  4. Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. Lamoril J, et al. Am J Hum Genet, 2001 May. PMID 11309681, Free PMC Article
  5. A molecular, enzymatic and clinical study in a family with hereditary coproporphyria. Gross U, et al. J Inherit Metab Dis, 2002 Aug. PMID 12227458

See all (83) 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 HTP PubMed 
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_2024_08

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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