Literature summary for 3.4.21.45 extracted from

Nilsson, S.C.; Trouw, L.A.; Renault, N.; Miteva, M.A.; Genel, F.; Zelazko, M.; Marquart, H.; Muller, K.; Sjoeholm, A.G.; Truedsson, L.; Villoutreix, B.O.; Blom, A.M.
Genetic, molecular and functional analyses of complement factor I deficiency (2009), Eur. J. Immunol., 39, 310-323.

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Cloned(Commentary)

Cloned (Comment)	Organism
HEK-293 cells transiently transfected with wild-type CFI or recombinant mutant constructs	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
C237Y	mutation affects secretion, is expressed in smaller amounts as the wild-type. Does not degrade C4b and C3b as efficiently as the wild-type	Homo sapiens
G170V	is expressed at low levels. Does degrade C4b and C3b	Homo sapiens
H400L	mutation affects secretion, is expressed at low levels. Does degrade C4b and C3b	Homo sapiens
I339M	mutation affects secretion, is expressed at low levels	Homo sapiens
Q232K	mutation affects secretion, is expressed in smaller amounts as the wild-type. Does degrade C4b and C3b	Homo sapiens
Q336x	truncated mutant can be expressed, in vitro, at a level similar to that of the wild-type, but is not functional because it lacks the serine protease domain. Is not detected in serum of the patient	Homo sapiens
S250L	mutation affects secretion, is expressed in smaller amounts as the wild-type. Cleaves C4b and C3b in the same manner as the wild-type	Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
38000	-	Western blotting, light chain of CFI under reducing conditions	Homo sapiens
50000	-	Western blotting, truncated Q336x mutant under non-reducing conditions and heavy chain of CFI under reducing conditions	Homo sapiens
88000	-	Western blotting, wild-type and the Q232K, C237Y and S250L mutants under non-reducing conditions	Homo sapiens
90000	-	Western blotting, unprocessed CFI protein under reducing conditions	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Purification (Commentary)

Purification (Comment)	Organism
on Ni-NTA resin	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	CFI-deficient patients have very low levels of CFI in their blood	Homo sapiens	-
serum	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
complement component C3b + H2O	-	Homo sapiens	?	-	?
complement component C4b + H2O	-	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
CFI	-	Homo sapiens
complement inhibitor factor I	-	Homo sapiens

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Release 2023.1 (January 2023)