F13A1
Summary: This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
coagulation factor XIII A chain | MIM:134570 | Ensembl:ENSG00000124491 | HGNC:HGNC:3531 | PA162 | 6p25.1 |
Gene Categories:
DRUGGABLE GENOMEGO terms in F13A1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IDA | GO:0003810 | protein-glutamine gamma-glutamyltransferase activity |
MF | TAS | GO:0003810 | protein-glutamine gamma-glutamyltransferase activity |
MF | IEA | GO:0046872 | metal ion binding |
BP | TAS | GO:0002576 | platelet degranulation |
BP | TAS | GO:0007596 | blood coagulation |
BP | IDA | GO:0018149 | peptide cross-linking |
BP | TAS | GO:0019221 | cytokine-mediated signaling pathway |
BP | IDA | GO:0072378 | blood coagulation, fibrin clot formation |
CC | TAS | GO:0005576 | extracellular region |
CC | TAS | GO:0031093 | platelet alpha granule lumen |
CC | HDA | GO:0072562 | blood microparticle |
Gene expression in normal tissue: F13A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in F13A1
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa04610 | Complement and coagulation cascades - Homo sapiens (human) |
pid | integrin1_pathway | Beta1 integrin cell surface interactions |
pid | integrin_a9b1_pathway | Alpha9 beta1 integrin signaling events |
wikipathways | WP2806 | Human Complement System |
wikipathways | WP4066 | Interleukin-4 and 13 signaling |
smpdb | SMP00268 | Warfarin Action Pathway |
smpdb | SMP00269 | Acenocoumarol Action Pathway |
smpdb | SMP00270 | Dicumarol Action Pathway |
smpdb | SMP00271 | Phenprocoumon Action Pathway |
smpdb | SMP00272 | Enoxaparin Action Pathway |
smpdb | SMP00273 | Fondaparinux Action Pathway |
smpdb | SMP00274 | Heparin Action Pathway |
smpdb | SMP00275 | Ardeparin Action Pathway |
smpdb | SMP00276 | Argatroban Action Pathway |
smpdb | SMP00277 | Bivalirudin Action Pathway |
smpdb | SMP00278 | Lepirudin Action Pathway |
smpdb | SMP00279 | Ximelagatran Action Pathway |
smpdb | SMP00280 | Alteplase Action Pathway |
smpdb | SMP00281 | Anistreplase Action Pathway |
smpdb | SMP00282 | Streptokinase Action Pathway |
smpdb | SMP00283 | Tenecteplase Action Pathway |
smpdb | SMP00284 | Urokinase Action Pathway |
smpdb | SMP00285 | Reteplase Action Pathway |
smpdb | SMP00286 | Aminocaproic Acid Action Pathway |
smpdb | SMP00287 | Tranexamic Acid Action Pathway |
smpdb | SMP00288 | Aprotinin Action Pathway |
smpdb | SMP00586 | Coagulation |
smpdb | SMP00655 | Phenindione Action Pathway |
smpdb | SMP00656 | Dicoumarol Action Pathway |
reactome | R-HSA-109582 | Hemostasis |
reactome | R-HSA-114608 | Platelet degranulation |
reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
reactome | R-HSA-140875 | Common Pathway of Fibrin Clot Formation |
reactome | R-HSA-140877 | Formation of Fibrin Clot (Clotting Cascade) |
reactome | R-HSA-168256 | Immune System |
reactome | R-HSA-449147 | Signaling by Interleukins |
reactome | R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling |
reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
reactome | R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in F13A1