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P00748 Proteins EGF-like domain Repeats
Uniprot ID:P00748
Protein name: Coagulation factor XII
Gene : F12
Protein Family:Peptidase S1 family
Squence Length : 615
Sequnce
>P00748 616 MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS
Domains
DOMAIN 42 90 Fibronectin type-II DOMAIN 94 131 EGF-like 1 DOMAIN 133 173 Fibronectin type-I DOMAIN 174 210 EGF-like 2 DOMAIN 217 295 Kringle DOMAIN 373 614 Peptidase S1
EGF-like sequence regions
94 - 131 DHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKE 174 - 210 QACRTNPCLHGGRCLEVEGHRLCHCPVGYTGAFCDVD
Function
"Factor 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"
Active Site
ACT_SITE 412 412 Charge relay system. ACT_SITE 461 461 Charge relay system. ACT_SITE 563 563 Charge relay system
Disease
"DISEASE: Factor 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) Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Hereditary 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) Note=The disease is caused by mutations affecting the gene represented in this entry"