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Literature summary for 4.1.1.37 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
Search for more literature for 4.1.1.37

Cloned(Commentary)

Cloned (Comment) Organism
expression in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
A22V soluble but reduced catalytic activity Homo sapiens
D79N misfolded protein that is trafficked to inclusion bodies Homo sapiens
F84I soluble but reduced catalytic activity Homo sapiens
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
additional information 5del10, this may yield a truncated protein of 115 amino acids or nonsense-mediated mRNA decay Homo sapiens
P150L misfolded protein that is trafficked to inclusion bodies Homo sapiens
Q116X this may yield a truncated protein of 115 amino acids or nonsense-mediated mRNA decay Homo sapiens
T141I soluble but reduced catalytic activity Homo sapiens
Y182C soluble but reduced catalytic activity Homo sapiens

Molecular Weight [Da]

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens P06132
-
-

Purification (Commentary)

Purification (Comment) Organism
Ni-NTA column Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
erythrocyte
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

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

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
UroD
-
 Homo sapiens
uroporphyrinogen decarboxylase
-
 Homo sapiens