Result Untitled Document Coagulation factor XIISourceHomo sapiens (human) Taxonomy Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.KeywordsBlood coagulation; Complete proteome; Direct protein sequencing; Disease mutation; Disulfide bond; EGF-like domain; Fibrinolysis; Glycoprotein; Hydrolase; Kringle; Polymorphism; Protease; Repeat; Secreted; Serine protease; Signal; Zymogen.DetailsFunction: 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 to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa. Post-translational modification: O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to GalNAc. Similarity: Belongs to the peptidase S1 family. Contains 2 EGF-like domains. Contains 1 fibronectin type-I domain. Contains 1 fibronectin type-II domain. Contains 1 kringle domain. Contains 1 peptidase S1 domain. Subcellular location: Secreted. Disease: Defects in F12 are the cause of factor XII deficiency (FA12D) Defects in F12 are the cause of hereditary angioedema type 3 (HAE3) Sequence length: 615 AA. SequenceMRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGPFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVSAccession NumberP00748 PubMed ID2888762, 3754331, 3877053, 3011063, 3886654, 6604055, 8528215, 1544894, 14760718, 16335952, 2882793, 2510163, 8049433, 9354665, 10361128, 11776307, 15205584, 15617741, 16638441, 17186468 CEX DBHS_F12CTD DB2161eggNOG DBprNOG12652Ensembl DBENST00000253496CATHG3DSA:2.40.20.10Genecard DBGC05M176761GeneID DB2161GermOnline DBENSG00000131187GO DB0005615, 0051787, 0004252, 0007597, 0002542, 0042730, 0045087, 0030194, 0051919, 0010756, 0016540, 0006508, 0051788, 0031638HGNC DB3530HOGENOM DBHBG755338HPA DBHPA003825InterPro DBIPR014394, IPR006209, IPR006210, IPR013032, IPR000742, IPR000083, IPR000562, IPR000001, IPR013806, IPR018056, IPR018059, IPR018114, IPR001254, IPR001314, IPR009003H-InvDBHIX0005461IPI DBIPI00019581KEGGhsa:2161NCBIM17466, AAB59490, M17464, M17465, AF538691, AAM97932, M31315, AAA70225, M11723, AAA51986, M13147, AAA70224, U71274, AAB51203, NP_000496.2OMIM105200, 134820, 202400, 134830, 202400, 134850, 202400, 176930, 601367, 134390, 188055, 227400, 600880, 601367, 612309, 227500, 134500, 306700, 300746, 306900, 227600, 176860, 188050, 612283, 612304, 176880, 612336, 264900, 612416, 234000, 610618, 610619Orphanet DB91378, 330PfamPF00008, PF00039, PF00040, PF00051, PF00089PharmaGKBPA24969PROSITE DBPS00022, PS01186, PS50026, PS01253, PS51091, PS00023, PS51092, PS00021, PS50070, PS50240, PS00134, PS00135SMART DBSM00181, SM00058, SM00059, SM00130, SM00020UCSCuc003mgo.2UniGeneHs.1321
Result
Coagulation factor XII
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 to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa. Post-translational modification: O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to GalNAc. Similarity: Belongs to the peptidase S1 family. Contains 2 EGF-like domains. Contains 1 fibronectin type-I domain. Contains 1 fibronectin type-II domain. Contains 1 kringle domain. Contains 1 peptidase S1 domain. Subcellular location: Secreted. Disease: Defects in F12 are the cause of factor XII deficiency (FA12D) Defects in F12 are the cause of hereditary angioedema type 3 (HAE3) Sequence length: 615 AA.
MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQPWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQLLRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGPFCDVDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVLNRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPSLTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAPEDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSGAARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQGDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS
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