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P36551

- HEM6_HUMAN

UniProt

P36551 - HEM6_HUMAN

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Protein

Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial

Gene

CPOX

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei244 – 2441SubstrateCurated
Active sitei258 – 2581Proton donor1 Publication
Sitei327 – 3271Important for dimerization

GO - Molecular functioni

  1. coproporphyrinogen oxidase activity Source: Reactome
  2. protein homodimerization activity Source: UniProtKB
  3. structural constituent of eye lens Source: Ensembl

GO - Biological processi

  1. heme biosynthetic process Source: Reactome
  2. porphyrin-containing compound metabolic process Source: Reactome
  3. protoporphyrinogen IX biosynthetic process Source: UniProtKB-UniPathway
  4. response to arsenic-containing substance Source: Ensembl
  5. response to insecticide Source: Ensembl
  6. response to iron ion Source: Ensembl
  7. response to lead ion Source: Ensembl
  8. response to methylmercury Source: Ensembl
  9. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Heme biosynthesis, Porphyrin biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS01369-MONOMER.
BRENDAi1.3.3.3. 2681.
ReactomeiREACT_9465. 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:2321. CPOX.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: Ensembl
  2. mitochondrial intermembrane space Source: Reactome
  3. mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Hereditary coproporphyria (HCP) [MIM:121300]: A 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.10 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351V → A in HCP. 1 Publication
VAR_023444
Natural varianti162 – 1687Missing in HCP. 1 Publication
VAR_002151
Natural varianti189 – 1891G → S in HCP; <5% of activity. 1 Publication
VAR_002152
Natural varianti197 – 1971G → W in HCP. 1 Publication
VAR_002153
Natural varianti201 – 2011E → K in HCP. 1 Publication
VAR_002154
Natural varianti208 – 2081S → F in HCP. 1 Publication
Corresponds to variant rs28929486 [ dbSNP | Ensembl ].
VAR_019067
Natural varianti214 – 2141L → R in HCP. 1 Publication
VAR_023445
Natural varianti249 – 2491P → R in HCP. 1 Publication
VAR_023446
Natural varianti249 – 2491P → S in HCP. 1 Publication
VAR_002155
Natural varianti279 – 2791G → R in HCP; a patient carrying also the L-12 mutation in ALAD. 1 Publication
VAR_058005
Natural varianti280 – 2801G → R in HCP. 1 Publication
VAR_002157
Natural varianti295 – 2951H → D in HCP. 1 Publication
VAR_002159
Natural varianti328 – 3281R → C in HCP. 1 Publication
Corresponds to variant rs28929487 [ dbSNP | Ensembl ].
VAR_019068
Natural varianti331 – 3311R → W in HCP. 2 Publications
VAR_002160
Natural varianti390 – 3901Missing in HCP. 1 Publication
VAR_002161
Natural varianti404 – 4041K → E in HCP; harderoporphyria form. 1 Publication
VAR_002162
Natural varianti427 – 4271W → R in HCP. 1 Publication
VAR_002163
Natural varianti447 – 4471R → C in HCP. 1 Publication
Corresponds to variant rs28931603 [ dbSNP | Ensembl ].
VAR_019069

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi392 – 41827Missing: Loss for dimerization. 1 PublicationAdd
BLAST

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi121300. phenotype.
Orphaneti79273. Hereditary coproporphyria.
PharmGKBiPA134979958.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 110110MitochondrionBy similarityAdd
BLAST
Chaini111 – 454344Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrialPRO_0000006029Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei404 – 4041N6-acetyllysine; alternateBy similarity
Modified residuei404 – 4041N6-succinyllysine; alternateBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP36551.
PaxDbiP36551.
PeptideAtlasiP36551.
PRIDEiP36551.

PTM databases

PhosphoSiteiP36551.

Expressioni

Gene expression databases

BgeeiP36551.
CleanExiHS_CPO.
HS_CPOX.
ExpressionAtlasiP36551. baseline and differential.
GenevestigatoriP36551.

Organism-specific databases

HPAiHPA015736.
HPA054448.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi107763. 7 interactions.
IntActiP36551. 1 interaction.
STRINGi9606.ENSP00000264193.

Structurei

Secondary structure

1
454
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi122 – 1287
Beta strandi130 – 1323
Helixi138 – 1436
Helixi148 – 17023
Beta strandi177 – 1837
Turni184 – 1863
Beta strandi187 – 19610
Beta strandi198 – 21316
Helixi216 – 2249
Beta strandi237 – 25115
Beta strandi256 – 26712
Beta strandi273 – 28412
Helixi290 – 30516
Helixi311 – 32212
Helixi326 – 3283
Beta strandi330 – 34213
Helixi347 – 35913
Helixi361 – 37212
Helixi379 – 39921
Helixi406 – 4083
Beta strandi409 – 4113
Helixi414 – 4207
Helixi438 – 44710

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2AEXX-ray1.58A111-454[»]
ProteinModelPortaliP36551.
SMRiP36551. Positions 119-454.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP36551.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni193 – 20210Important for dimerizationCurated
Regioni260 – 2623Substrate binding
Regioni392 – 42837Important for dimerizationAdd
BLAST
Regioni411 – 4133Substrate binding

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0408.
GeneTreeiENSGT00390000017311.
HOGENOMiHOG000262768.
HOVERGENiHBG051897.
InParanoidiP36551.
KOiK00228.
OMAiRYFETAN.
PhylomeDBiP36551.
TreeFamiTF300703.

Family and domain databases

Gene3Di3.40.1500.10. 1 hit.
InterProiIPR001260. Coprogen_oxidase_aer.
IPR018375. Coprogen_oxidase_CS.
[Graphical view]
PANTHERiPTHR10755. PTHR10755. 1 hit.
PfamiPF01218. Coprogen_oxidas. 1 hit.
[Graphical view]
PRINTSiPR00073. COPRGNOXDASE.
SUPFAMiSSF102886. SSF102886. 1 hit.
PROSITEiPS01021. COPROGEN_OXIDASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P36551 [UniParc]FASTAAdd to Basket

« 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

Sequence cautioni

The sequence BAA04033.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti247 – 2471I → T in CAA82250. (PubMed:8159699)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351V → A in HCP. 1 Publication
VAR_023444
Natural varianti162 – 1687Missing in HCP. 1 Publication
VAR_002151
Natural varianti189 – 1891G → S in HCP; <5% of activity. 1 Publication
VAR_002152
Natural varianti197 – 1971G → W in HCP. 1 Publication
VAR_002153
Natural varianti201 – 2011E → K in HCP. 1 Publication
VAR_002154
Natural varianti208 – 2081S → F in HCP. 1 Publication
Corresponds to variant rs28929486 [ dbSNP | Ensembl ].
VAR_019067
Natural varianti214 – 2141L → R in HCP. 1 Publication
VAR_023445
Natural varianti249 – 2491P → R in HCP. 1 Publication
VAR_023446
Natural varianti249 – 2491P → S in HCP. 1 Publication
VAR_002155
Natural varianti272 – 2721N → H.2 Publications
Corresponds to variant rs1131857 [ dbSNP | Ensembl ].
VAR_002156
Natural varianti279 – 2791G → R in HCP; a patient carrying also the L-12 mutation in ALAD. 1 Publication
VAR_058005
Natural varianti280 – 2801G → R in HCP. 1 Publication
VAR_002157
Natural varianti294 – 2941V → I.3 Publications
Corresponds to variant rs2228056 [ dbSNP | Ensembl ].
VAR_002158
Natural varianti295 – 2951H → D in HCP. 1 Publication
VAR_002159
Natural varianti328 – 3281R → C in HCP. 1 Publication
Corresponds to variant rs28929487 [ dbSNP | Ensembl ].
VAR_019068
Natural varianti331 – 3311R → W in HCP. 2 Publications
VAR_002160
Natural varianti352 – 3521R → C.
Corresponds to variant rs11921054 [ dbSNP | Ensembl ].
VAR_048827
Natural varianti390 – 3901Missing in HCP. 1 Publication
VAR_002161
Natural varianti404 – 4041K → E in HCP; harderoporphyria form. 1 Publication
VAR_002162
Natural varianti427 – 4271W → R in HCP. 1 Publication
VAR_002163
Natural varianti447 – 4471R → C in HCP. 1 Publication
Corresponds to variant rs28931603 [ dbSNP | Ensembl ].
VAR_019069

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z34531
, Z34803, Z34804, Z34805, Z34806, Z34807, Z34808 Genomic DNA. Translation: CAA84292.1.
AK290140 mRNA. Translation: BAF82829.1.
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.
PIRiI52444.
RefSeqiNP_000088.3. NM_000097.5.
UniGeneiHs.476982.

Genome annotation databases

EnsembliENST00000264193; ENSP00000264193; ENSG00000080819.
GeneIDi1371.
KEGGihsa:1371.
UCSCiuc003dsx.3. human.

Polymorphism databases

DMDMi67476671.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z34531
, Z34803 , Z34804 , Z34805 , Z34806 , Z34807 , Z34808 Genomic DNA. Translation: CAA84292.1 .
AK290140 mRNA. Translation: BAF82829.1 .
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 .
CCDSi CCDS2932.1.
PIRi I52444.
RefSeqi NP_000088.3. NM_000097.5.
UniGenei Hs.476982.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2AEX X-ray 1.58 A 111-454 [» ]
ProteinModelPortali P36551.
SMRi P36551. Positions 119-454.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107763. 7 interactions.
IntActi P36551. 1 interaction.
STRINGi 9606.ENSP00000264193.

Chemistry

ChEMBLi CHEMBL1681618.

PTM databases

PhosphoSitei P36551.

Polymorphism databases

DMDMi 67476671.

Proteomic databases

MaxQBi P36551.
PaxDbi P36551.
PeptideAtlasi P36551.
PRIDEi P36551.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264193 ; ENSP00000264193 ; ENSG00000080819 .
GeneIDi 1371.
KEGGi hsa:1371.
UCSCi uc003dsx.3. human.

Organism-specific databases

CTDi 1371.
GeneCardsi GC03M098239.
GeneReviewsi CPOX.
HGNCi HGNC:2321. CPOX.
HPAi HPA015736.
HPA054448.
MIMi 121300. phenotype.
612732. gene.
neXtProti NX_P36551.
Orphaneti 79273. Hereditary coproporphyria.
PharmGKBi PA134979958.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0408.
GeneTreei ENSGT00390000017311.
HOGENOMi HOG000262768.
HOVERGENi HBG051897.
InParanoidi P36551.
KOi K00228.
OMAi RYFETAN.
PhylomeDBi P36551.
TreeFami TF300703.

Enzyme and pathway databases

UniPathwayi UPA00251 ; UER00322 .
BioCyci MetaCyc:HS01369-MONOMER.
BRENDAi 1.3.3.3. 2681.
Reactomei REACT_9465. Heme biosynthesis.

Miscellaneous databases

EvolutionaryTracei P36551.
GeneWikii Coproporphyrinogen_III_oxidase.
GenomeRNAii 1371.
NextBioi 5561.
PROi P36551.
SOURCEi Search...

Gene expression databases

Bgeei P36551.
CleanExi HS_CPO.
HS_CPOX.
ExpressionAtlasi P36551. baseline and differential.
Genevestigatori P36551.

Family and domain databases

Gene3Di 3.40.1500.10. 1 hit.
InterProi IPR001260. Coprogen_oxidase_aer.
IPR018375. Coprogen_oxidase_CS.
[Graphical view ]
PANTHERi PTHR10755. PTHR10755. 1 hit.
Pfami PF01218. Coprogen_oxidas. 1 hit.
[Graphical view ]
PRINTSi PR00073. COPRGNOXDASE.
SUPFAMi SSF102886. SSF102886. 1 hit.
PROSITEi PS01021. COPROGEN_OXIDASE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping."
    Delfau-Larue M.H., Martasek P., Grandchamp B.
    Hum. Mol. Genet. 3:1325-1330(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Placenta.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Thalamus.
  3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-294.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-294.
    Tissue: Brain, Placenta and Uterus.
  6. "Molecular cloning, sequencing and expression of cDNA encoding human coproporphyrinogen oxidase."
    Taketani S., Kohno H., Furukawa T., Yoshinaga T., Tokunaga R.
    Biochim. Biophys. Acta 1183:547-549(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 73-454.
    Tissue: Placenta.
  7. "Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase."
    Martasek P., Camadro J.-M., Delfau-Larue M.H., Dumas J.B., Montagne J.J., de Verneuil H., Labbe P., Grandchamp B.
    Proc. Natl. Acad. Sci. U.S.A. 91:3024-3028(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 101-454, VARIANT HIS-272.
    Tissue: Foreskin.
  8. "The long, but not the short, presequence of human coproporphyrinogen oxidase is essential for its import and sorting to mitochondria."
    Susa S., Daimon M., Ono H., Li S., Yoshida T., Kato T.
    Tohoku J. Exp. Med. 200:39-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: X-RAY CRYSTALLOGRAPHY (1.58 ANGSTROMS) OF 111-453 IN COMPLEX WITH CITRATE, MUTAGENESIS OF 392-TYR--LEU-418, ACTIVE SITE, SUBUNIT.
  11. "Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms."
    Martasek P., Nordmann Y., Grandchamp B.
    Hum. Mol. Genet. 3:477-480(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HCP TRP-331.
  12. "Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria."
    Fujita H., Kondo M., Taketani S., Nomura N., Furuyama K., Akagi R., Nagai T., Terajima M., Galbraith R.A., Sassa S.
    Hum. Mol. Genet. 3:1807-1810(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HCP SER-189, VARIANTS HIS-272 AND ILE-294.
  13. "A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria."
    Lamoril J., Martasek P., Deybach J.-C., da Silva V., Grandchamp B., Nordmann Y.
    Hum. Mol. Genet. 4:275-278(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HCP GLU-404.
  14. "A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria."
    Daimon M., Gojyou E., Sugawara M., Yamatani K., Tominaga M., Sasaki H.
    Hum. Genet. 99:199-201(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HCP ARG-280.
  15. "Three novel mutations in the coproporphyrinogen oxidase gene."
    Lamoril J., Deybach J.-C., Puy H., Grandchamp B., Nordmann Y.
    Hum. Mutat. 9:78-80(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HCP 162-GLN--ALA-168 DEL AND ASP-295.
  16. "Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene."
    Schreiber W.E., Zhang X., Senz J., Jamani A.
    Hum. Mutat. 10:196-200(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HCP LYS-201 AND SER-249.
  17. "Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update."
    Rosipal R., Lamoril J., Puy H., da Silva V., Gouya L., de Rooij F.W.M., Te Velde K., Nordmann Y., Martasek P., Deybach J.-C.
    Hum. Mutat. 13:44-53(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HCP TRP-197; GLY-390 DEL AND ARG-427.
  18. "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."
    Wiman A., Floderus Y., Harper P.
    J. Hum. Genet. 47:407-412(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HCP PHE-208; CYS-328; TRP-331 AND CYS-447.
  19. "Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain."
    To-Figueras J., Badenas C., Enriquez M.T., Segura S., Alvarez C., Mila M., Lecha M., Herrero C.
    Mol. Genet. Metab. 85:160-163(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HCP ALA-135; ARG-214 AND ARG-249.
  20. "Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient."
    Akagi R., Inoue R., Muranaka S., Tahara T., Taketani S., Anderson K.E., Phillips J.D., Sassa S.
    Br. J. Haematol. 132:237-243(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HCP ARG-279.
  21. Erratum
    Akagi R., Inoue R., Muranaka S., Tahara T., Taketani S., Anderson K.E., Phillips J.D., Sassa S.
    Br. J. Haematol. 132:662-662(2006)

Entry informationi

Entry nameiHEM6_HUMAN
AccessioniPrimary (citable) accession number: P36551
Secondary accession number(s): A8K275
, Q14060, Q53F08, Q8IZ45, Q96AF3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 7, 2005
Last modified: October 29, 2014
This is version 156 of the entry and version 3 of the sequence. [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

External Data

Dasty 3