InnateDB Protein
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IDBP-93741.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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C1QC
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Protein Name
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complement component 1, q subcomponent, C chain
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Synonyms
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C1Q-C; C1QG;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000363770
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InnateDB Gene
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IDBG-93737 (C1QC)
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Protein Structure
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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.
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Subcellular Localization |
Secreted.
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Disease Associations |
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. {ECO:0000269PubMed:8630118}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001073
Complement C1q protein
IPR008160
Collagen triple helix repeat
IPR008983
Tumour necrosis factor-like domain
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PFAM |
PF00386
PF01391
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PRINTS |
PR00007
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PIRSF |
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SMART |
SM00110
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TIGRFAMs |
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Modification |
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SwissProt |
P02747
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PhosphoSite |
PhosphoSite-
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TrEMBL |
A0A024RAA7
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UniProt Splice Variant |
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Entrez Gene |
714
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UniGene |
Hs.602329
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RefSeq |
NP_001107573
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HUGO |
HGNC:1245
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OMIM |
120575
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CCDS |
CCDS227
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HPRD |
00395
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IMGT |
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EMBL |
AF087892
AK057792
AL158086
BC009016
CH471134
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GenPept |
AAH09016
AAP97191
BAB71575
CAI22894
EAW95016
EAW95017
EAW95018
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