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P02747 Proteins with novel repeats
Uniprot ID:P02747
Gene name: C1QC C1QG
Protein Family:
Protein name: Complement C1q subcomponent subunit C
Length : 245
Sequnce
>P02747 246 MDVGPSSLPHLGLKLLLLLLLLPLRGQANTGCYGIPGMPGLPGAPGKDGYDGLPGPKGEPGIPAIPGIRGPKGQKGEPGLPGHPGKNGPMGPPGMPGVPGPMGIPGEPGEEGRYKQKFQSVFTVTRQTHQPPAPNSLIRFNAVLTNPQGDYDTSTGKFTCKVPGLYYFVYHASHTANLCVLLYRSGVKVVTFCGHTSKTNQVNSGGVLLRLQVGEEVWLAVNDYYDMVGIQGSDSVFSGFLLFPD
Repeated Sequence regions
Length: 15 residues : 3 times from 55 to 102 :0.7407407407407407 region Length:48 GPKG---EPGIPAIPGIR GPKGQKGEPGLPGHPGKN GPMG---PPGMPGVPGPM
Domains
DOMAIN 31 112 Collagen-like. DOMAIN 115 245 C1q
Function
"C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes"
Disease
DISEASE: Complement component C1q deficiency (C1QD) [MIM:613652]: A disorder caused by impaired activation of the complement classical pathway It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis Note=The disease is caused by mutations affecting the gene represented in this entry