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UniProt functional annotation for P00746 | ||
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| UniProt code: P00746. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Factor 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. |
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| Catalytic activity: | |
Reaction=Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.; EC=3.4.21.46; |
| Subcellular location: | |
Secreted. |
| Disease: | |
Complement 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 variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the peptidase S1 family. {ECO:0000255|PROSITE- ProRule:PRU00274}. |
| Sequence caution: | |
Sequence=AAA35527.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.