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Literature summary for 4.2.1.75 extracted from

  • Fortian, A.; Gonzalez, E.; Castano, D.; Falcon-Perez, J.M.; Millet, O.
    Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R (2011), J. Biol. Chem., 286, 13127-13133.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 4.2.1.75

Cloned(Commentary)

Cloned (Comment) Organism
stably expression of GFP-tagged UROIIIS-WT or UROIIIS-C73R proteins in MLP29cell lines, reduced expression levels of C73R-UROIIIS in the mammalian cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
C73A computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants Homo sapiens
C73D computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants Homo sapiens
C73L computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants Homo sapiens
C73N computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants Homo sapiens
C73R a naturally occuring mutation in the enzyme responsible for more than one-third of all of the reported cases of the rare autosomal disease congenital erythropoietic porphyria. The mutant protein retains partial catalytic activity but shows reduced the enzyme stability Homo sapiens
C73S computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants Homo sapiens
C73Y computational modeling, structure comparison with the wild-type enzyme and the other C73 mutants Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
hydroxymethylbilane Homo sapiens
-
 uroporphyrinogen III + H2O
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
hydroxymethylbilane
-
 Homo sapiens uroporphyrinogen III + H2O
-
 ?

Synonyms

Synonyms Comment Organism
UROIIIS
-
 Homo sapiens
Uroporphyrinogen III synthase
-
 Homo sapiens

General Information

General Information Comment Organism
physiological function UROIIIS catalyzes the cyclization of the linear tetrapyrrole hydroxymethylbilane to produce uroporphyrin III. A Cys in position 73 is not essential for the catalytic activity of the enzyme but its mutation to Arg speeds up the process of irreversible unfolding and aggregation Homo sapiens