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MGP003594

UniProt Annotations

Entry Information
Gene Nameficolin (collagen/fibrinogen domain containing) 3
Protein EntryFCN3_HUMAN
UniProt IDO75636
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75636-1; Sequence=Displayed; Name=2; IsoId=O75636-2; Sequence=VSP_001541;
DiseaseFicolin 3 deficiency (FCN3D) [MIM:613860]: A disorder characterized by immunodeficiency, recurrent infections, brain abscesses and recurrent warts on the fingers. Affected individuals have normal levels of lymphocytes, normal T-cell responses, and normal antibodies, but a selective deficient antibody response to pneumococcal polysaccharide vaccine. {ECO:0000269|PubMed:19535802}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMay function in innate immunity through activation of the lectin complement pathway. Calcium-dependent and GlcNAc- binding lectin. Has affinity with GalNAc, GlcNAc, D-fucose, as mono/oligosaccharide and lipopolysaccharides from S.typhimurium and S.minnesota. {ECO:0000269|PubMed:11907111}.
PtmThe N-terminus is blocked.
SimilarityBelongs to the ficolin lectin family. {ECO:0000305}.
SimilarityContains 1 collagen-like domain. {ECO:0000305}.
SimilarityContains 1 fibrinogen C-terminal domain. {ECO:0000255|PROSITE-ProRule:PRU00739}.
Subcellular LocationSecreted. Note=Found in blood plasma, bronchus, alveolus and bile duct.
SubunitHomopolymer; disulfide-linked. May be an octadecamer consisting of an elementary trimer unit. Does not interact with fibronectin, elastin or zymosan. Interacts with MASP1 and MASP2. {ECO:0000269|PubMed:11907111}.
Tissue SpecificityLiver and lung. In liver it is produced by bile duct epithelial cells and hepatocytes. In lung it is produced by both ciliated bronchial epithelial cells and type II alveolar epithelial cells. {ECO:0000269|PubMed:10330454}.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/fcn3/";
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