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MGP001015

UniProt Annotations

Entry Information
Gene Namecoagulation factor XII (Hageman factor)
Protein EntryFA12_HUMAN
UniProt IDP00748
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivitySelective cleavage of Arg-|-Ile bonds in factor VII to form factor VIIa and factor XI to form factor XIa.
DiseaseFactor XII deficiency (FA12D) [MIM:234000]: An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre-operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)- negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection). {ECO:0000269|PubMed:10361128, ECO:0000269|PubMed:11776307, ECO:0000269|PubMed:15205584, ECO:0000269|PubMed:15617741, ECO:0000269|PubMed:2510163, ECO:0000269|PubMed:2882793, ECO:0000269|PubMed:8049433, ECO:0000269|PubMed:8528215, ECO:0000269|PubMed:9354665}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHereditary angioedema 3 (HAE3) [MIM:610618]: An hereditary angioedema occurring only in women. Hereditary angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). {ECO:0000269|PubMed:16638441, ECO:0000269|PubMed:17186468}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionFactor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta- factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa. {ECO:0000269|PubMed:21304106}.
InteractionQ07021:C1QBP; NbExp=2; IntAct=EBI-6378830, EBI-347528;
PtmFactor XII is activated by kallikrein in alpha-factor XIIa, which is then further converted by trypsin into beta-factor XIIa. Alpha-factor XIIa is composed of the NH2-terminal heavy chain (Coagulation factor XIIa heavy chain) and the COOH-terminal light chain (Coagulation factor XIIa light chain), connected by a disulfide bond. Beta-factor XIIa is composed of 2 chains linked by a disulfide bond, a light chain (Beta-factor XIIa part 2), corresponding to the COOH-terminal light chain (Coagulation factor XIIa light chain) and a nonapeptide (Beta-factor XIIa part 1).
PtmO- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to GalNAc. {ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:1544894, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:3886654}.
SimilarityBelongs to the peptidase S1 family. {ECO:0000255|PROSITE-ProRule:PRU00274}.
SimilarityContains 1 fibronectin type-I domain. {ECO:0000255|PROSITE-ProRule:PRU00478}.
SimilarityContains 1 fibronectin type-II domain. {ECO:0000255|PROSITE-ProRule:PRU00479}.
SimilarityContains 1 kringle domain. {ECO:0000255|PROSITE- ProRule:PRU00121}.
SimilarityContains 1 peptidase S1 domain. {ECO:0000255|PROSITE- ProRule:PRU00274}.
SimilarityContains 2 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
Subcellular LocationSecreted.
SubunitInteracts with HRG; the interaction, which is enhanced in the presence of zinc ions and inhibited by heparin-binding, inhibits factor XII autoactivation and contact-initiated coagulation. {ECO:0000269|PubMed:21304106}.
Web ResourceName=F12base; Note=F12 mutation db; URL="http://structure.bmc.lu.se/idbase/F12base/";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f12/";
Web ResourceName=Wikipedia; Note=Factor XII entry; URL="http://en.wikipedia.org/wiki/Factor_XII";
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