Literature summary for 3.4.21.42 extracted from

Abe, K.; Endo, Y.; Nakazawa, N.; Kanno, K.; Okubo, M.; Hoshino, T.; Fujita, T.
Unique phenotypes of C1s deficiency and abnormality caused by two compound heterozygosities in a Japanese family (2009), J. Immunol., 182, 1681-1688.

Search for more literature for 3.4.21.42

Application

Application	Comment	Organism
medicine	two patients with C1s deficiency or abnormality in a Japanese family that have distinct compound heterozygous genotypes derived from three distinct C1s gene mutations including a novel missense mutation in exon XII, and which share similar symptoms, but which are different from those of previously reported cases	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
wild-type and mutant expressed in Drosophila S2 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G630E	missense mutation, like normal C1s, the mutant has the ability to form a complex with rC1r. The activity of the mutant is significantly lower than that of wild-type, being only 60% of the activity of the wild-type rC1s. The mutant has a higher susceptibility to proteolysis than the wild-type, and prolonged proteolysis generates a truncated L chain with little or no protease activity	Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
30000	-	sequence analysis, the L chain of C1s derived from the maternal abnormal allele	Homo sapiens
81000	-	sequence analysis, proenzyme form of C1s generated by the paternal abnormal allele	Homo sapiens
90000	-	sequence analysis, proenzyme form of maternal mutated C1s	Homo sapiens
200000	-	gel filtration, wild-type and mutant G630E	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P09871	Japanese family	-

Purification (Commentary)

Purification (Comment)	Organism
by Ni-NTA affinity chromatography	Homo sapiens

Source Tissue

Source Tissue	Comment	Organism	Textmining
serum	levels of C1s in sera of two patients with C1s deficiency or abnormality in a Japanese family are approximately half that of healthy subjects	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
Boc-Leu-Ser-Thr-Arg-7-amido-4-methylcoumarin + H2O	-	Homo sapiens	?	-	?

Subunits

Subunits	Comment	Organism
homodimer	-	Homo sapiens

Synonyms

Synonyms	Comment	Organism
C1s	-	Homo sapiens

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Release 2023.1 (January 2023)