Entrez Summary: This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015].
UniProt Summary: 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.
Pfam DomainsGO Terms
Pfam Domains
DUF1986
Trypsin
GO Terms
complement activation, alternative pathway
serine-type peptidase activity
platelet alpha granule lumen
secretory granule lumen
ficolin-1-rich granule lumen
Notch signaling pathway
platelet degranulation
serine-type endopeptidase activity
complement activation
humoral immune response
neutrophil degranulation
neutrophil activation involved in immune response
neutrophil mediated immunity
neutrophil activation
granulocyte activation
leukocyte degranulation
myeloid leukocyte mediated immunity
myeloid cell activation involved in immune response
myeloid leukocyte activation
leukocyte activation involved in immune response
cell activation involved in immune response
activation of immune response
regulated exocytosis
innate immune response
leukocyte mediated immunity
exocytosis
positive regulation of immune response
leukocyte activation
defense response to other organism
secretion by cell
export from cell
cell activation
immune effector process
secretion
regulation of immune response
positive regulation of immune system process
proteolysis
response to other organism
response to external biotic stimulus
response to biotic stimulus
defense response
regulation of immune system process
immune response
extracellular region
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)