Hereditary angioedema type III

Gene Information

Names

HUGO name: F12

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein 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

Catalytic activity:

Selective cleavage of Arg-|-ile bonds in factor VII to form factor VIIa and factor XI to form factor XIa

Subcellular location:

Secreted

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

Structures (PDB)

Domains

Fibronectin type-II domain: 42-90

    EGF-like 1 domain: 94-131

      Fibronectin type-I domain: 133-173

        EGF-like 2 domain: 174-210

          Kringle domain: 217-295

            Peptidase S1 domain: 373-614

              Other features

              Signal peptide: 1-19

                Coagulation factor XIIa heavy chain: 20-372

                  Beta-factor XIIa part 1: 354-362

                    Beta-factor XIIa part 2: 373-615

                      Coagulation factor XIIa light chain: 373-615

                        Disulfide bond: 47-73

                          Disulfide bond: 61-88

                            Disulfide bond: 98-110

                              Disulfide bond: 104-119

                                Disulfide bond: 121-130

                                  Disulfide bond: 135-163

                                    Disulfide bond: 161-170

                                      Disulfide bond: 178-189

                                        Disulfide bond: 183-198

                                          Disulfide bond: 200-209

                                            Disulfide bond: 217-295

                                              Disulfide bond: 238-277

                                                Disulfide bond: 266-290

                                                  Disulfide bond: 359-486

                                                    Disulfide bond: 397-413

                                                      Disulfide bond: 405-475

                                                        Disulfide bond: 436-439

                                                          Disulfide bond: 500-569

                                                            Disulfide bond: 532-548

                                                              Disulfide bond: 559-590

                                                                O-linked (fuc) and N-linked (glcnac...) and O-linked (galnac...) glycosylation sitess: 109,249,299,305,308,328,329,337,433

                                                                  Other related resourses:

                                                                  Expression

                                                                  Expression pattern for human

                                                                  Tissue Expression (%) Clones
                                                                  ascites 38.94 9:47004
                                                                  stomach 16.59 6:73538
                                                                  whole_body 7.49 1:27167
                                                                  liver 6.42 5:158276
                                                                  mixed 4.95 7:287479
                                                                  uncharacterized_tissue 4.74 5:214464
                                                                  colon 4.06 2:100063
                                                                  lung 3.55 5:286589
                                                                  prostate 3.45 2:117863
                                                                  uterus 3.19 3:191472

                                                                  Animal models

                                                                  Mouse