Linked Life Data

CPATH-139430

Source:http://cbio.mskcc.org/cpath#CPATH-139430

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SubjectPredicateObjectContext
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cpath:CPATH-139430http://www.biopax.org/relea...Complement C1q subcomponent subunit Alld:biogrid
cpath:CPATH-139430http://www.biopax.org/relea...C1QA_HUMANlld:biogrid
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cpath:CPATH-139430http://www.biopax.org/relea...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. SUBUNIT: C1 is a calcium-dependent trimolecular complex of C1q, R and S in the molar ration of 1:2:2. C1q subcomponent is composed of nine subunits, six of which are disulfide-linked dimers of the A and B chains, and three of which are disulfide-linked dimers of the C chain. SUBCELLULAR LOCATION: Secreted. PTM: O-linked glycans consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl groups. DISEASE: Defects in C1QA are a cause of complement component C1q deficiency (C1QD) [MIM:613652]. A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. SIMILARITY: Contains 1 C1q domain. SIMILARITY: Contains 1 collagen-like domain. WEB RESOURCE: Name=C1QAbase; Note=C1QA mutation db; URL="http://bioinf.uta.fi/C1QAbase/"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/c1qa/"; COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.lld:biogrid
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