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MGP000365

UniProt Annotations

Entry Information
Gene Namecomplement component 8, beta polypeptide
Protein EntryCO8B_HUMAN
UniProt IDP07358
SpeciesHuman
Comments
Comment typeDescription
DiseaseComplement component 8 deficiency, 2 (C8D2) [MIM:613789]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. 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.
PolymorphismThe sequence shown is that of allotype C8B B.
PtmN-glycosylated; contains one or two bound glycans. Not O- glycosylated. {ECO:0000269|PubMed:10551839, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:2820472}.
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 TSP type-1 domains. {ECO:0000255|PROSITE- ProRule:PRU00210}.
Subcellular LocationSecreted.
SubunitHeterotrimer of 3 chains: alpha, beta and gamma. The alpha and gamma chains are disulfide bonded. Component of the membrane attack complex (MAC). 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. {ECO:0000269|PubMed:21454577, ECO:0000269|PubMed:7440581}.
Web ResourceName=C8Bbase; Note=C8B mutation db; URL="http://structure.bmc.lu.se/idbase/C8Bbase/";
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