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MGP001014

UniProt Annotations

Entry Information
Gene Namecoagulation factor XI
Protein EntryFA11_HUMAN
UniProt IDP03951
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P03951-1; Sequence=Displayed; Name=2; Synonyms=Platelet; IsoId=P03951-2; Sequence=VSP_005388;
Catalytic ActivitySelective cleavage of Arg-|-Ala and Arg-|-Val bonds in factor IX to form factor IXa.
DiseaseFactor XI deficiency (FA11D) [MIM:612416]: A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate. {ECO:0000269|PubMed:10027710, ECO:0000269|PubMed:10606881, ECO:0000269|PubMed:11895778, ECO:0000269|PubMed:15026311, ECO:0000269|PubMed:15180874, ECO:0000269|PubMed:1547342, ECO:0000269|PubMed:15953011, ECO:0000269|PubMed:16607084, ECO:0000269|PubMed:18005151, ECO:0000269|PubMed:21457405, ECO:0000269|PubMed:21668437, ECO:0000269|PubMed:21999818, ECO:0000269|PubMed:22016685, ECO:0000269|PubMed:22159456, ECO:0000269|PubMed:22322133, ECO:0000269|PubMed:2813350, ECO:0000269|PubMed:7669672, ECO:0000269|PubMed:7888672, ECO:0000269|PubMed:9401068, ECO:0000269|PubMed:9787168}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationInhibited by SERPINA5. {ECO:0000269|PubMed:2844223}.
FunctionFactor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.
InteractionP23827:eco (xeno); NbExp=3; IntAct=EBI-1041019, EBI-1029159;
PtmActivated by factor XIIa (or XII), which cleaves each polypeptide after Arg-387 into the light chain, which contains the active site, and the heavy chain, which associates with high molecular weight (HMW) kininogen.
SimilarityBelongs to the peptidase S1 family. Plasma kallikrein subfamily. {ECO:0000255|PROSITE-ProRule:PRU00274}.
SimilarityContains 1 peptidase S1 domain. {ECO:0000255|PROSITE- ProRule:PRU00274}.
SimilarityContains 4 apple domains. {ECO:0000255|PROSITE- ProRule:PRU00315}.
Subcellular LocationSecreted.
SubunitHomodimer; disulfide-linked. Forms a heterodimer with SERPINA5. After activation the heavy and light chains are also linked by a disulfide bond. {ECO:0000269|PubMed:18510371, ECO:0000269|PubMed:1998667}.
Tissue SpecificityIsoform 2 is produced by platelets and megakaryocytes but absent from other blood cells.
Web ResourceName=Mendelian genes Coagulation factor XI (F11); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/F11";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f11/";
Web ResourceName=Wikipedia; Note=Factor XI entry; URL="http://en.wikipedia.org/wiki/Factor_XI";
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