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MGP000363

UniProt Annotations

Entry Information
Gene Namecomplement component 7
Protein EntryCO7_HUMAN
UniProt IDP10643
SpeciesHuman
Comments
Comment typeDescription
DiseaseComplement component 7 deficiency (C7D) [MIM:610102]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. {ECO:0000269|PubMed:8871666, ECO:0000269|PubMed:9218625, ECO:0000269|PubMed:9856499}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
FunctionConstituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor.
PtmC7 has 28 disulfide bridges.
PtmO- and C-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. {ECO:0000269|PubMed:10551839, ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:22171320}.
SimilarityBelongs to the complement C6/C7/C8/C9 family. {ECO:0000305}.
SimilarityContains 1 EGF-like domain. {ECO:0000305}.
SimilarityContains 1 LDL-receptor class A domain. {ECO:0000255|PROSITE-ProRule:PRU00124}.
SimilarityContains 1 MACPF domain. {ECO:0000255|PROSITE- ProRule:PRU00745}.
SimilarityContains 2 Sushi (CCP/SCR) domains. {ECO:0000255|PROSITE-ProRule:PRU00302}.
SimilarityContains 2 TSP type-1 domains. {ECO:0000255|PROSITE- ProRule:PRU00210}.
Subcellular LocationSecreted.
SubunitMonomer or dimer; as a C5b-7 complex it can also form multimeric rosettes. MAC assembly is initiated by protelytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9.
Web ResourceName=C7base; Note=C7 mutation db; URL="http://structure.bmc.lu.se/idbase/C7base/";
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