Cpox coproporphyrinogen oxidase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cpoxprovided by MGI
Official Full Name: coproporphyrinogen oxidaseprovided by MGI
Primary source: MGI:MGI:104841
See related: Ensembl:ENSMUSG00000022742 AllianceGenome:MGI:104841
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CPX; Cpo; HCP; cac; nct; M100835; Rgsc835
Summary: Enables coproporphyrinogen oxidase activity. A structural constituent of eye lens. Acts upstream of or within heme biosynthetic process. Located in membrane and mitochondrion. Is expressed in embryo and yolk sac. Used to study hereditary coproporphyria. Human ortholog(s) of this gene implicated in hereditary coproporphyria and liver disease. Orthologous to human CPOX (coproporphyrinogen oxidase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E14 (RPKM 163.4), liver E14.5 (RPKM 155.8) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16; 16 C1.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (58490571..58500754)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (58670208..58680391)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel ENU-induced Cpox mutation causes microcytic hypochromic anemia in mice.
Title: A novel ENU-induced Cpox mutation causes microcytic hypochromic anemia in mice.
The mechanisms by which impairment of CPOX leads to lens opacity in the NCT are elusive. However, our data illuminate a hitherto unanticipated involvement of the heme biosynthesis pathway in lens physiology.
Title: Hereditary cataract of the Nakano mouse: Involvement of a hypomorphic mutation in the coproporphyrinogen oxidase gene.

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Phenotypes

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Associated conditions

Description	Tests
Nakano cataract GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Targeted (2)
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16333 (e-PCR)
- UniSTS:124728

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables P-type sodium:potassium-exchanging transporter activity	TAS Traceable Author Statement more info	PubMed
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 coproporphyrinogen oxidase activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables structural constituent of eye lens	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in heme A biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heme B biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heme O biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within heme biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heme biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within porphyrin-containing compound biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in porphyrin-containing compound biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within potassium ion transport	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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sodium ion transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
is_active_in mitochondrial intermembrane space	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial

Names: COX; Coproporphyrinogen III oxidase, mitochondrial precursor (Coproporphyrinogenase) (Coprogen oxidase) (COX); clone 560; coprogen oxidase; coproporphyrinogen-III oxidase, mitochondrial; coproporphyrinogenase

NP_031783.2

EC 1.3.3.3

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.