Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
F7 coagulation factor VII SPCA Homo sapiens 10 protein-coding PRRG2 , PRRG4 , PROZ , F10 , PRRG3 , PROC , PRRG1 , F9 , PRSS56 3.4.21.21 613878

Summary

This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]

GeneOntology

Gene Loss events - F7 (1 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_C2GZ4U Balaena mysticetus Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1016/j.celrep.2014.12.008