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MGP000821

UniProt Annotations

Entry Information
Gene Namecomplement factor D (adipsin)
Protein EntryCFAD_HUMAN
UniProt IDP00746
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivitySelective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.
DiseaseComplement factor D deficiency (CFDD) [MIM:613912]: An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. {ECO:0000269|PubMed:16527897}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionFactor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway.
Sequence CautionSequence=AAA35527.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the peptidase S1 family. {ECO:0000255|PROSITE-ProRule:PRU00274}.
SimilarityContains 1 peptidase S1 domain. {ECO:0000255|PROSITE- ProRule:PRU00274}.
Subcellular LocationSecreted.
Web ResourceName=CFDbase; Note=CFD mutation db; URL="http://structure.bmc.lu.se/idbase/CFDbase/";
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