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Literature summary for 3.4.21.45 extracted from

  • Kavanagh, D.; Richards, A.; Noris, M.; Hauhart, R.; Liszewski, M.K.; Karpman, D.; Goodship, J.A.; Fremeaux-Bacchi, V.; Remuzzi, G.; Goodship, T.H.; Atkinson, J.P.
    Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome (2008), Mol. Immunol., 45, 95-105.
    View publication on PubMed

Application

Application Comment Organism
medicine studies on mutations of complement factor I predisposing to atypical hemolytic uremic syndrome aHUS Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli, mutant and unmodified proteins Homo sapiens

Protein Variants

Protein Variants Comment Organism
D501N amino acid exchange in the serine protease domain, resulting in secreted proteins that lack cofactor function of complement components C3b and C4b Homo sapiens
D506V amino acid exchange in the serine protease domain, resulting in secreted proteins that lack cofactor function of complement components C3b and C4b Homo sapiens
G243D cofactor function of complement components C3b and Cb4 not affected Homo sapiens
I322T amino acid exchange in the serine protease domain, resulting in secreted proteins that lack cofactor function of complement components C3b and C4b Homo sapiens
M120I clinical data of aHUS-atients with complement factor I mutation summarized, cofactor function of complement components C3b and Cb4 not affected Homo sapiens
additional information deletion mutant delTTCAC (1446-1450) analyzed, no secretion observed Homo sapiens
R299W amino acid exchange in the heavy chain, about 30% activity retained Homo sapiens
R388H cofactor function of complement components C3b and Cb4 not affected Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
50000
-
heavy chain, indicative of processing Homo sapiens
88000
-
non-reduced CFI proteins, SDS-PAGE Homo sapiens
88000
-
reduced form, RRKR-linker peptide not cleaved, corresponds to pro-complement factor I 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
-
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
recombinant and native proteins, gel filtration, SDS-PAGE Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
HEK-293 cell transfected with mutant and wild-type forms of complement factor I Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
assay of complement component C3b and Cb4 cofactor function and endpoint assay described, complement component C3b and Cb4 cofactor function of M120I, G243D and R388H correspond to those of unmodified proteins, 30% activity retained in R299W mutants, no activity in the mutants D501N, D506V and I322T observed Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
complement component C3b + H2O
-
Homo sapiens complement component C3c + ?
-
?
complement component C3b + H2O complement factor I mutants predisposing to atypical hemolytic uremic syndrome analyzed, cofactor function of complement components C3b and Cb4 tested Homo sapiens complement component C3c + ?
-
?
complement component C4b + H2O
-
Homo sapiens complement component C4c + C4d
-
?

Subunits

Subunits Comment Organism
heterodimer
-
Homo sapiens