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Literature summary for 1.3.3.3 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

Application Comment Organism
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)

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

Protein Variants

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
coproporphyrinogen III oxidase
-
Homo sapiens
CPO
-
Homo sapiens