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Literature summary for 3.4.21.45 extracted from

  • Nilsson, S.C.; Karpman, D.; Vaziri-Sani, F.; Kristoffersson, A.C.; Salomon, R.; Provot, F.; Fremeaux-Bacchi, V.; Trouw, L.A.; Blom, A.M.
    A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation (2007), Mol. Immunol., 44, 1835-1844.
    View publication on PubMed
Search for more literature for 3.4.21.45

Application

Application Comment Organism
medicine association of complement factor I with atypical hemolytic uremic syndrome analyzed Homo sapiens

Protein Variants

Protein Variants Comment Organism
G261D mutation in the complement factor I heavy chain associated with atypical hemolytic uremic syndrome, recombinant protein generated, activity tested Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
additional information
-
 mutant protein reveals a slightly different migration pattern during electrophoresis under reducing conditions, due to proximity of the mutation to a cysteine residue Homo sapiens
37000
-
 light chain of Homo sapiens
50000
-
 heavy chain of Homo sapiens
90000
-
 unprocessed, under reducing conditions, SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
complement component C3b + H2O Homo sapiens mutation of complement factor I associated to atypical hemolytic uremic syndrome analyzed, activity observed in mutant protein comparable to wild-type complement component C3c + ?
-
 ?
complement component C4b + H2O Homo sapiens
-
 complement component C4c + C4d
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P05156 encoded by CFI gene
-

Purification (Commentary)

Purification (Comment) Organism
gel filtration, recombinant protein Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
serum
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 hemolytic complement activity test performed, plasma levels and capability to degrade complement components C4b and C3b analyzed in wild-type and mutant protein, kinetics shown, no major differences between mutant and wild-type protein identified Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
complement component C3b + H2O mutation of complement factor I associated to atypical hemolytic uremic syndrome analyzed, activity observed in mutant protein comparable to wild-type Homo sapiens complement component C3c + ?
-
 ?
complement component C4b + H2O
-
 Homo sapiens complement component C4c + C4d
-
 ?

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 cleavage assay at Homo sapiens