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UniProtKB - P36551 (HEM6_HUMAN)

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Protein

Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial

Gene

CPOX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the heme biosynthesis. Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX.

Catalytic activityi

Coproporphyrinogen-III + O2 + 2 H+ = protoporphyrinogen-IX + 2 CO2 + 2 H2O.

Pathwayi: protoporphyrin-IX biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes protoporphyrinogen-IX from coproporphyrinogen-III (O2 route).
Proteins known to be involved in this subpathway in this organism are:
  1. Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (CPOX)
This subpathway is part of the pathway protoporphyrin-IX biosynthesis, which is itself part of Porphyrin-containing compound metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes protoporphyrinogen-IX from coproporphyrinogen-III (O2 route), the pathway protoporphyrin-IX biosynthesis and in Porphyrin-containing compound metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei244SubstrateCurated1
Active sitei258Proton donor1 Publication1
Sitei327Important for dimerization1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionOxidoreductase
Biological processHeme biosynthesis, Porphyrin biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS01369-MONOMER
BRENDAi1.3.3.3 2681
ReactomeiR-HSA-189451 Heme biosynthesis
UniPathwayiUPA00251; UER00322

Names & Taxonomyi

Protein namesi
Recommended name:
Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (EC:1.3.3.3)
Short name:
COX
Short name:
Coprogen oxidase
Short name:
Coproporphyrinogenase
Gene namesi
Name:CPOX
Synonyms:CPO, CPX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000080819.6
HGNCiHGNC:2321 CPOX
MIMi612732 gene
neXtProtiNX_P36551

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Hereditary coproporphyria (HCP)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces.
See also OMIM:121300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023444135V → A in HCP. 1 PublicationCorresponds to variant dbSNP:rs201826432Ensembl.1
Natural variantiVAR_002151162 – 168Missing in HCP. 1 Publication7
Natural variantiVAR_002152189G → S in HCP; <5% of activity. 1 PublicationCorresponds to variant dbSNP:rs759347283Ensembl.1
Natural variantiVAR_002153197G → W in HCP. 1 Publication1
Natural variantiVAR_002154201E → K in HCP. 1 Publication1
Natural variantiVAR_019067208S → F in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917872EnsemblClinVar.1
Natural variantiVAR_023445214L → R in HCP. 1 Publication1
Natural variantiVAR_023446249P → R in HCP. 1 Publication1
Natural variantiVAR_002155249P → S in HCP. 1 Publication1
Natural variantiVAR_058005279G → R in HCP; a patient carrying also the L-12 mutation in ALAD. 1 PublicationCorresponds to variant dbSNP:rs121917874EnsemblClinVar.1
Natural variantiVAR_002157280G → R in HCP. 1 Publication1
Natural variantiVAR_002159295H → D in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917870EnsemblClinVar.1
Natural variantiVAR_019068328R → C in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917873EnsemblClinVar.1
Natural variantiVAR_002160331R → W in HCP. 2 PublicationsCorresponds to variant dbSNP:rs121917866EnsemblClinVar.1
Natural variantiVAR_002161390Missing in HCP. 1 Publication1
Natural variantiVAR_002162404K → E in HCP; harderoporphyria form. 1 PublicationCorresponds to variant dbSNP:rs121917868EnsemblClinVar.1
Natural variantiVAR_002163427W → R in HCP. 1 Publication1
Natural variantiVAR_019069447R → C in HCP. 1 PublicationCorresponds to variant dbSNP:rs28931603EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi392 – 418Missing : Loss for dimerization. 1 PublicationAdd BLAST27

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1371
GeneReviewsiCPOX
MalaCardsiCPOX
MIMi121300 phenotype
OpenTargetsiENSG00000080819
Orphaneti79273 Hereditary coproporphyria
PharmGKBiPA134979958

Chemistry databases

ChEMBLiCHEMBL1681618

Polymorphism and mutation databases

BioMutaiCPOX
DMDMi67476671

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 110MitochondrionBy similarityAdd BLAST110
ChainiPRO_0000006029111 – 454Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrialAdd BLAST344

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei112PhosphoserineBy similarity1
Modified residuei404N6-acetyllysine; alternateBy similarity1
Modified residuei404N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP36551
MaxQBiP36551
PaxDbiP36551
PeptideAtlasiP36551
PRIDEiP36551
ProteomicsDBi55213

PTM databases

iPTMnetiP36551
PhosphoSitePlusiP36551
SwissPalmiP36551

Expressioni

Gene expression databases

BgeeiENSG00000080819
CleanExiHS_CPO
HS_CPOX
ExpressionAtlasiP36551 baseline and differential
GenevisibleiP36551 HS

Organism-specific databases

HPAiHPA015736
HPA054448

Interactioni

Subunit structurei

Homodimer.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107763, 14 interactors
IntActiP36551, 21 interactors
MINTiP36551
STRINGi9606.ENSP00000264193

Structurei

Secondary structure

1454
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi122 – 128Combined sources7
Beta strandi130 – 132Combined sources3
Helixi138 – 143Combined sources6
Helixi148 – 170Combined sources23
Beta strandi177 – 183Combined sources7
Turni184 – 186Combined sources3
Beta strandi187 – 196Combined sources10
Beta strandi198 – 213Combined sources16
Helixi216 – 224Combined sources9
Beta strandi237 – 251Combined sources15
Beta strandi256 – 267Combined sources12
Beta strandi273 – 284Combined sources12
Helixi290 – 305Combined sources16
Helixi311 – 322Combined sources12
Helixi326 – 328Combined sources3
Beta strandi330 – 342Combined sources13
Helixi347 – 359Combined sources13
Helixi361 – 372Combined sources12
Helixi379 – 399Combined sources21
Helixi406 – 408Combined sources3
Beta strandi409 – 411Combined sources3
Helixi414 – 420Combined sources7
Helixi438 – 447Combined sources10

3D structure databases

ProteinModelPortaliP36551
SMRiP36551
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP36551

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni193 – 202Important for dimerizationCurated10
Regioni260 – 262Substrate binding3
Regioni392 – 428Important for dimerizationAdd BLAST37
Regioni411 – 413Substrate binding3

Sequence similaritiesi

Belongs to the aerobic coproporphyrinogen-III oxidase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1518 Eukaryota
COG0408 LUCA
GeneTreeiENSGT00390000017311
HOGENOMiHOG000262768
HOVERGENiHBG051897
InParanoidiP36551
KOiK00228
OMAiMDLTPYY
OrthoDBiEOG091G06ZF
PhylomeDBiP36551
TreeFamiTF300703

Family and domain databases

Gene3Di3.40.1500.10, 1 hit
InterProiView protein in InterPro
IPR001260 Coprogen_oxidase_aer
IPR036406 Coprogen_oxidase_aer_sf
IPR018375 Coprogen_oxidase_CS
PANTHERiPTHR10755 PTHR10755, 1 hit
PfamiView protein in Pfam
PF01218 Coprogen_oxidas, 1 hit
PRINTSiPR00073 COPRGNOXDASE
SUPFAMiSSF102886 SSF102886, 1 hit
PROSITEiView protein in PROSITE
PS01021 COPROGEN_OXIDASE, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P36551-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MALQLGRLSS GPCWLVARGG CGGPRAWSQC GGGGLRAWSQ RSAAGRVCRP 
        60         70         80         90        100
PGPAGTEQSR GLGHGSTSRG GPWVGTGLAA ALAGLVGLAT AAFGHVQRAE 
       110        120        130        140        150
MLPKTSGTRA TSLGRPEEEE DELAHRCSSF MAPPVTDLGE LRRRPGDMKT 
       160        170        180        190        200
KMELLILETQ AQVCQALAQV DGGANFSVDR WERKEGGGGI SCVLQDGCVF 
       210        220        230        240        250
EKAGVSISVV HGNLSEEAAK QMRSRGKVLK TKDGKLPFCA MGVSSVIHPK 
       260        270        280        290        300
NPHAPTIHFN YRYFEVEEAD GNKQWWFGGG CDLTPTYLNQ EDAVHFHRTL 
       310        320        330        340        350
KEACDQHGPD LYPKFKKWCD DYFFIAHRGE RRGIGGIFFD DLDSPSKEEV 
       360        370        380        390        400
FRFVQSCARA VVPSYIPLVK KHCDDSFTPQ EKLWQQLRRG RYVEFNLLYD 
       410        420        430        440        450
RGTKFGLFTP GSRIESILMS LPLTARWEYM HSPSENSKEA EILEVLRHPR 

DWVR
Length:454
Mass (Da):50,152
Last modified:June 7, 2005 - v3
Checksum:i6EC3D15FD8FD86B5
GO
Isoform 2 (identifier: P36551-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     272-287: NKQWWFGGGCDLTPTY → KGLRSYGKYCRAKCAF
     288-454: Missing.

Note: No experimental confirmation available.
Show »
Length:287
Mass (Da):30,383
Checksum:i69DFD4AC8247AE4E
GO

Sequence cautioni

The sequence BAA04033 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti247I → T in CAA82250 (PubMed:8159699).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023444135V → A in HCP. 1 PublicationCorresponds to variant dbSNP:rs201826432Ensembl.1
Natural variantiVAR_002151162 – 168Missing in HCP. 1 Publication7
Natural variantiVAR_002152189G → S in HCP; <5% of activity. 1 PublicationCorresponds to variant dbSNP:rs759347283Ensembl.1
Natural variantiVAR_002153197G → W in HCP. 1 Publication1
Natural variantiVAR_002154201E → K in HCP. 1 Publication1
Natural variantiVAR_019067208S → F in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917872EnsemblClinVar.1
Natural variantiVAR_023445214L → R in HCP. 1 Publication1
Natural variantiVAR_023446249P → R in HCP. 1 Publication1
Natural variantiVAR_002155249P → S in HCP. 1 Publication1
Natural variantiVAR_002156272N → H2 PublicationsCorresponds to variant dbSNP:rs1131857EnsemblClinVar.1
Natural variantiVAR_058005279G → R in HCP; a patient carrying also the L-12 mutation in ALAD. 1 PublicationCorresponds to variant dbSNP:rs121917874EnsemblClinVar.1
Natural variantiVAR_002157280G → R in HCP. 1 Publication1
Natural variantiVAR_002158294V → I3 PublicationsCorresponds to variant dbSNP:rs2228056EnsemblClinVar.1
Natural variantiVAR_002159295H → D in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917870EnsemblClinVar.1
Natural variantiVAR_019068328R → C in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917873EnsemblClinVar.1
Natural variantiVAR_002160331R → W in HCP. 2 PublicationsCorresponds to variant dbSNP:rs121917866EnsemblClinVar.1
Natural variantiVAR_048827352R → C. Corresponds to variant dbSNP:rs11921054EnsemblClinVar.1
Natural variantiVAR_002161390Missing in HCP. 1 Publication1
Natural variantiVAR_002162404K → E in HCP; harderoporphyria form. 1 PublicationCorresponds to variant dbSNP:rs121917868EnsemblClinVar.1
Natural variantiVAR_002163427W → R in HCP. 1 Publication1
Natural variantiVAR_019069447R → C in HCP. 1 PublicationCorresponds to variant dbSNP:rs28931603EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_057182272 – 287NKQWW…LTPTY → KGLRSYGKYCRAKCAF in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_057183288 – 454Missing in isoform 2. 1 PublicationAdd BLAST167

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z34531
, Z34803, Z34804, Z34805, Z34806, Z34807, Z34808 Genomic DNA Translation: CAA84292.1
AK290140 mRNA Translation: BAF82829.1
AK299692 mRNA Translation: BAG61597.1
AK223481 mRNA Translation: BAD97201.1
CH471052 Genomic DNA Translation: EAW79854.1
BC017210 mRNA Translation: AAH17210.1
BC023551 mRNA Translation: AAH23551.1
BC023554 mRNA Translation: AAH23554.1
D16611 mRNA Translation: BAA04033.1 Different initiation.
Z28409 mRNA Translation: CAA82250.1
CCDSiCCDS2932.1 [P36551-1]
PIRiI52444
RefSeqiNP_000088.3, NM_000097.5 [P36551-1]
UniGeneiHs.476982

Genome annotation databases

EnsembliENST00000264193; ENSP00000264193; ENSG00000080819 [P36551-1]
GeneIDi1371
KEGGihsa:1371
UCSCiuc003dsx.4 human [P36551-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHEM6_HUMAN
AccessioniPrimary (citable) accession number: P36551
Secondary accession number(s): A8K275
, B4DSD5, Q14060, Q53F08, Q8IZ45, Q96AF3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 7, 2005
Last modified: June 20, 2018
This is version 187 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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