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Literature summary extracted from

  • Badenas, C.; To-Figueras, J.; Phillips, J.D.; Warby, C.A.; Munoz, C.; Herrero, C.
    Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives (2009), Clin. Genet., 75, 346-353.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.1.1.37 expression in Escherichia coli Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.1.1.37 A22V soluble but reduced catalytic activity Homo sapiens
4.1.1.37 D79N misfolded protein that is trafficked to inclusion bodies Homo sapiens
4.1.1.37 F84I soluble but reduced catalytic activity Homo sapiens
4.1.1.37 M1I the absence of an initial methionine codon within the messenger RNA (mRNA) Kozac consensus sequence is predicted to lead to a loss of translation from the mutant allele Homo sapiens
4.1.1.37 additional information 5del10, this may yield a truncated protein of 115 amino acids or nonsense-mediated mRNA decay Homo sapiens
4.1.1.37 P150L misfolded protein that is trafficked to inclusion bodies Homo sapiens
4.1.1.37 Q116X this may yield a truncated protein of 115 amino acids or nonsense-mediated mRNA decay Homo sapiens
4.1.1.37 T141I soluble but reduced catalytic activity Homo sapiens
4.1.1.37 Y182C soluble but reduced catalytic activity Homo sapiens

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
4.1.1.37 42000
-
 SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
4.1.1.37 uroporphyrinogen-III Homo sapiens
-
 coproporphyrinogen-III + 4 CO2
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
4.1.1.37 Homo sapiens P06132
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
4.1.1.37 Ni-NTA column Homo sapiens

Source Tissue

EC Number Source Tissue Comment Organism Textmining
4.1.1.37 erythrocyte
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
4.1.1.37 additional information
-
 recombinant mutant A22V substrate uroporphyrinogen-I, 62.6% of recombinant wild-type activity Homo sapiens
4.1.1.37 additional information
-
 recombinant mutant A22V substrate uroporphyrinogen-III, 73.2% of recombinant wild-type activity Homo sapiens
4.1.1.37 additional information
-
 recombinant mutant F84I substrate uroporphyrinogen-I, 1.7% of recombinant wild-type activity Homo sapiens
4.1.1.37 additional information
-
 recombinant mutant F84I substrate uroporphyrinogen-III, 2.3% of recombinant wild-type activity Homo sapiens
4.1.1.37 additional information
-
 recombinant mutant T141I substrate uroporphyrinogen-I, 21.3% of recombinant wild-type activity Homo sapiens
4.1.1.37 additional information
-
 recombinant mutant T141I substrate uroporphyrinogen-III, 26.7% of recombinant wild-type activity Homo sapiens
4.1.1.37 additional information
-
 recombinant mutant Y182C substrate uroporphyrinogen-I, 40.0% of recombinant wild-type activity Homo sapiens
4.1.1.37 additional information
-
 recombinant mutant Y182C substrate uroporphyrinogen-III, 65.2% of recombinant wild-type activity Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.1.1.37 pentacarboxylic porphyrinogen I
-
 Homo sapiens coproporphyrinogen-I + 4 CO2
-
 ?
4.1.1.37 uroporphyrinogen-I
-
 Homo sapiens coproporphyrinogen-I + 4 CO2
-
 ?
4.1.1.37 uroporphyrinogen-III
-
 Homo sapiens coproporphyrinogen-III + 4 CO2
-
 ?

Synonyms

EC Number Synonyms Comment Organism
4.1.1.37 UroD
-
 Homo sapiens
4.1.1.37 uroporphyrinogen decarboxylase
-
 Homo sapiens