CPOX | ENSG00000080819 | NCBI 1371

Details for: CPOX

Gene ID: 1371

Symbol: CPOX

Ensembl ID: ENSG00000080819

Description: coproporphyrinogen oxidase

Associated with

Heme biosynthesis
(R-HSA-189451)
Metabolism
(R-HSA-1430728)
Metabolism of porphyrins
(R-HSA-189445)
Coproporphyrinogen oxidase activity
(GO:0004109)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Heme a biosynthetic process
(GO:0006784)
Heme b biosynthetic process
(GO:0006785)
Heme biosynthetic process
(GO:0006783)
Heme o biosynthetic process
(GO:0048034)
Membrane
(GO:0016020)
Mitochondrial intermembrane space
(GO:0005758)
Mitochondrion
(GO:0005739)
Protein homodimerization activity
(GO:0042803)
Protoporphyrinogen ix biosynthetic process
(GO:0006782)
Structural constituent of eye lens
(GO:0005212)

Other Information

Proteins

HEM6_HUMAN

Genular Protein ID: 3072594842

Symbol: HEM6_HUMAN

Name: N/A

UniProtKB Accession Codes:

P36551 A8K275 B4DSD5 Q14060 Q53F08 Q8IZ45 Q96AF3

Database IDs:

Citations:

PubMed ID: 7987309

Title: Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping.

PubMed ID: 7987309

DOI: 10.1093/hmg/3.8.1325

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8286403

Title: Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase.

PubMed ID: 8286403

DOI: 10.1016/0005-2728(94)90083-3

PubMed ID: 8159699

Title: Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.

PubMed ID: 8159699

DOI: 10.1073/pnas.91.8.3024

PubMed ID: 12862310

Title: The long, but not the short, presequence of human coproporphyrinogen oxidase is essential for its import and sorting to mitochondria.

PubMed ID: 12862310

DOI: 10.1620/tjem.200.39

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 8012360

Title: Homozygous hereditary coproporphyria caused by an arginine to tryptophan substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.

PubMed ID: 8012360

DOI: 10.1093/hmg/3.3.477

PubMed ID: 21103937

Title: Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.

PubMed ID: 21103937

DOI: 10.1007/s10545-010-9237-9

PubMed ID: 16176984

Title: Structural basis of hereditary coproporphyria.

PubMed ID: 16176984

DOI: 10.1073/pnas.0506557102

PubMed ID: 7849704

Title: Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria.

PubMed ID: 7849704

DOI: 10.1093/hmg/3.10.1807

PubMed ID: 7757079

Title: A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.

PubMed ID: 7757079

DOI: 10.1093/hmg/4.2.275

PubMed ID: 9048920

Title: A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.

PubMed ID: 9048920

DOI: 10.1007/s004390050338

PubMed ID: 8990017

Title: Three novel mutations in the coproporphyrinogen oxidase gene.

PubMed ID: 8990017

DOI: 10.1002/(sici)1098-1004(1997)9:1<78::aid-humu17>3.0.co;2-m

PubMed ID: 9298818

Title: Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.

PubMed ID: 9298818

DOI: 10.1002/(sici)1098-1004(1997)10:3<196::aid-humu3>3.0.co;2-h

PubMed ID: 9843038

Title: Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family.

PubMed ID: 9843038

DOI: 10.1002/(sici)1096-8628(19981116)80:3<204::aid-ajmg4>3.3.co;2-7

PubMed ID: 9888388

Title: Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

PubMed ID: 9888388

DOI: 10.1002/(sici)1098-1004(1999)13:1<44::aid-humu5>3.0.co;2-q

PubMed ID: 12181641

Title: 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

DOI: 10.1007/s100380200059

PubMed ID: 15896662

Title: Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

PubMed ID: 15896662

DOI: 10.1016/j.ymgme.2004.12.012

PubMed ID: 16398658

Title: Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

PubMed ID: 16398658

DOI: 10.1111/j.1365-2141.2005.05852.x

Sequence Information:

Length: 454
Mass: 50152
Checksum: 6EC3D15FD8FD86B5
Sequence:

MALQLGRLSS GPCWLVARGG CGGPRAWSQC GGGGLRAWSQ RSAAGRVCRP PGPAGTEQSR 
GLGHGSTSRG GPWVGTGLAA ALAGLVGLAT AAFGHVQRAE MLPKTSGTRA TSLGRPEEEE 
DELAHRCSSF MAPPVTDLGE LRRRPGDMKT KMELLILETQ AQVCQALAQV DGGANFSVDR 
WERKEGGGGI SCVLQDGCVF EKAGVSISVV HGNLSEEAAK QMRSRGKVLK TKDGKLPFCA 
MGVSSVIHPK NPHAPTIHFN YRYFEVEEAD GNKQWWFGGG CDLTPTYLNQ EDAVHFHRTL 
KEACDQHGPD LYPKFKKWCD DYFFIAHRGE RRGIGGIFFD DLDSPSKEEV FRFVQSCARA 
VVPSYIPLVK KHCDDSFTPQ EKLWQQLRRG RYVEFNLLYD RGTKFGLFTP GSRIESILMS 
LPLTARWEYM HSPSENSKEA EILEVLRHPR DWVR

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: CPOX

Associated with

Other Information

Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping. PubMed ID: 7987309

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase. PubMed ID: 8286403

Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase. PubMed ID: 8159699

The long, but not the short, presequence of human coproporphyrinogen oxidase is essential for its import and sorting to mitochondria. PubMed ID: 12862310

Initial characterization of the human central proteome. PubMed ID: 21269460

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Homozygous hereditary coproporphyria caused by an arginine to tryptophan substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. PubMed ID: 8012360

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. PubMed ID: 21103937

Structural basis of hereditary coproporphyria. PubMed ID: 16176984

Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria. PubMed ID: 7849704

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria. PubMed ID: 7757079

A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria. PubMed ID: 9048920

Three novel mutations in the coproporphyrinogen oxidase gene. PubMed ID: 8990017

Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene. PubMed ID: 9298818

Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family. PubMed ID: 9843038

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. PubMed ID: 9888388

Two novel mutations and coexistence of the 991C&gt;T and the 1339C&gt;T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria. PubMed ID: 12181641

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain. PubMed ID: 15896662

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. PubMed ID: 16398658