Details for: CPOX

Gene ID: 1371

Symbol: CPOX

Ensembl ID: ENSG00000080819

Description: coproporphyrinogen oxidase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.71
    Marker Score: 1163
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.44
    Marker Score: 2518
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.09
    Marker Score: 536.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71776
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48000.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.98
    Marker Score: 315
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2406
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.95
    Marker Score: 568
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 486
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.94
    Marker Score: 8949
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 441
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.93
    Marker Score: 14600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.93
    Marker Score: 9575.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.92
    Marker Score: 2178
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.91
    Marker Score: 1403.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2722
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.9
    Marker Score: 677
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.89
    Marker Score: 279
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5051
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5263
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.85
    Marker Score: 7991
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.84
    Marker Score: 7240
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.82
    Marker Score: 1669
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.79
    Marker Score: 824
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.77
    Marker Score: 47546.5
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.75
    Marker Score: 4786
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 565
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.73
    Marker Score: 1220.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 376
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 289
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.71
    Marker Score: 446
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.71
    Marker Score: 1025.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2943
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 624
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.67
    Marker Score: 2646
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.67
    Marker Score: 443
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.66
    Marker Score: 1577
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 168
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.62
    Marker Score: 179
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6
    Marker Score: 3622
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.57
    Marker Score: 1616
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.53
    Marker Score: 291
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.52
    Marker Score: 654
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.52
    Marker Score: 19131
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.51
    Marker Score: 1978
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.5
    Marker Score: 132
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.48
    Marker Score: 18324
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.47
    Marker Score: 300
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.45
    Marker Score: 224
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.45
    Marker Score: 116.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.45
    Marker Score: 8868
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.45
    Marker Score: 15435
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.44
    Marker Score: 3827.5
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.42
    Marker Score: 3250
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.42
    Marker Score: 182
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.42
    Marker Score: 2685
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.42
    Marker Score: 412
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.41
    Marker Score: 1358
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.41
    Marker Score: 6169
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.4
    Marker Score: 1741
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.39
    Marker Score: 188
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.39
    Marker Score: 166
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.39
    Marker Score: 161
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.38
    Marker Score: 160
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.38
    Marker Score: 214
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.37
    Marker Score: 1537
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.37
    Marker Score: 355
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.37
    Marker Score: 244
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.37
    Marker Score: 12389
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.37
    Marker Score: 179
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.36
    Marker Score: 160.5
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.36
    Marker Score: 323
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.36
    Marker Score: 308
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.35
    Marker Score: 106
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 0.35
    Marker Score: 254
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.35
    Marker Score: 144
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.35
    Marker Score: 944
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.34
    Marker Score: 347
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.34
    Marker Score: 235
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.33
    Marker Score: 562
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.33
    Marker Score: 159
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.33
    Marker Score: 64
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.32
    Marker Score: 347
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.32
    Marker Score: 148
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 0.32
    Marker Score: 97
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.32
    Marker Score: 1709
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.32
    Marker Score: 318
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.32
    Marker Score: 283
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.31
    Marker Score: 308
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.31
    Marker Score: 569
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.31
    Marker Score: 385
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.31
    Marker Score: 85
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.31
    Marker Score: 99
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.31
    Marker Score: 107.5
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.31
    Marker Score: 81
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.31
    Marker Score: 97

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Other Information

**Key characteristics:** - Protein type: Protein - Ensembl ID: ENSG00000080819 - Pathway: Heme biosynthesis - Ontology: Coproporphyrinogen oxidase activity **Pathways and functions:** CPOX is responsible for the following pathways: - Protoporphyrinogen ix biosynthetic process - Heme biosynthesis - Heme o biosynthetic process **Clinical significance:** CPOX gene mutations have been linked to several human diseases, including: - Hemolytic anemia - Sickle cell disease - Thalassemia - Cancer **Additional information:** - CPOX is a highly conserved protein, with a similar gene found in all vertebrates. - It is regulated by a number of factors, including iron, copper, and zinc. - CPOX is a relatively new protein, with the gene first identified in 1996.

Genular Protein ID: 3072594842

Symbol: HEM6_HUMAN

Name: N/A

UniProtKB Accession Codes:

P36551 A8K275 B4DSD5 Q14060 Q53F08 Q8IZ45 Q96AF3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 6 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 16 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 2 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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. For the full schema, download it here.