Application | Comment | Organism |
---|---|---|
medicine | studies on mutations of complement factor I predisposing to atypical hemolytic uremic syndrome aHUS | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
expressed in Escherichia coli, mutant and unmodified proteins | Homo sapiens |
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 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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P05156 | encoded by CFI gene | - |
Purification (Comment) | Organism |
---|---|
recombinant and native proteins, gel filtration, SDS-PAGE | Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
HEK-293 cell | transfected with mutant and wild-type forms of complement factor I | Homo sapiens | - |
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 | 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 | Comment | Organism |
---|---|---|
heterodimer | - |
Homo sapiens |