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Literature summary extracted from

  • Schmitt, C.; Gouya, L.; Malonova, E.; Lamoril, J.; Camadro, J.M.; Flamme, M.; Rose, C.; Lyoumi, S.; Da Silva, V.; Boileau, C.; Grandchamp, B.; Beaumont, C.; Deybach, J.C.; Puy, H.
    Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria (2005), Hum. Mol. Genet., 14, 3089-3098.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.3.3.3 medicine patients with the specific mutation K404E have a unifying syndrome in which hematological disorders predominate, the so called ‘harderoporphyria’, harderoporphyric patients exhibit iron overload secondary to dyserythropoiesis Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.3.3 mutant enzyme cloned into pGEX-2T and expressed in Escherichia coli Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.3.3 D400R less than 1% of residual activity compared with wild-type CPO, shows accumulation of coproporphyrinogen Homo sapiens
1.3.3.3 F395G 4% of residual activity compared with wild-type CPO, shows accumulation of coproporphyrinogen Homo sapiens
1.3.3.3 F405G 1% of residual activity compared with wild-type CPO, shows accumulation of coproporphyrinogen Homo sapiens
1.3.3.3 G402A less than 1% of residual activity compared with wild-type CPO, shows accumulation of coproporphyrinogen Homo sapiens
1.3.3.3 K404E 66% of residual activity compared with wild-type CPO, causes substantial accumulation of harderoporphyrinogen Homo sapiens
1.3.3.3 K404N 61% of residual activity compared with wild-type CPO, shows accumulation of coproporphyrinogen Homo sapiens
1.3.3.3 R401D 45% of residual activity compared with wild-type CPO, shows accumulation of coproporphyrinogen Homo sapiens
1.3.3.3 R401K 63% of residual activity compared with wild-type CPO, shows accumulation of coproporphyrinogen Homo sapiens
1.3.3.3 R401W 75% of residual activity compared with wild-type CPO, causes substantial accumulation of harderoporphyrinogen Homo sapiens
1.3.3.3 T403N 31% of residual activity compared with wild-type CPO, shows accumulation of coproporphyrinogen Homo sapiens
1.3.3.3 Y399L 81% of residual activity compared with wild-type CPO, shows accumulation of coproporphyrinogen Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.3.3.3 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.3.3 coproporphyrinogen-III + O2 + 2 H+
-
 Homo sapiens protoporphyrinogen-IX + 2 CO2 + 2 H2O
-
 ?
1.3.3.3 harderoporphyrinogen + O2
-
 Homo sapiens protoporphyrinogen IX + CO2 + H2O2
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.3.3.3 coproporphyrinogen III oxidase
-
 Homo sapiens
1.3.3.3 CPO
-
 Homo sapiens