Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
KLKB1 kallikrein B1 PKK , PPK , KLK3 , PKKD Homo sapiens 19 protein-coding TMPRSS4 , HPN , TMPRSS9 , TMPRSS6 , TMPRSS11E , TMPRSS11B , TMPRSS11F , TMPRSS11D , TMPRSS11A , ST14 , TMPRSS7 , TMPRSS5 , TMPRSS15 , PRSS8 , CFI , TMPRSS3 , TMPRSS2 , TMPRSS13 , F11 , PRSS51 , PRSS55 , PRSS41 , PRSS22 , PRSS27 , TMPRSS12 , PRSS50 3.4.21.34 229000

Summary

This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

GeneOntology

Gene Loss events - KLKB1 (6 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_1UUG3S Physeter catodon Artiodactyla Gene deletion Full Cetacea 10.1126/sciadv.aaw6671
GL_EZI21C Balaena mysticetus Artiodactyla LOF (frameshift, premature stop, ss) Full No 10.1016/j.celrep.2014.12.008
GL_GS5SSN Physeter catodon Artiodactyla Other Full No 10.1093/gbe/evx187
GL_QWSHL6 Balaenoptera acutorostrata Artiodactyla Exon(s) deletion Full Cetacea 10.1126/sciadv.aaw6671
GL_RWWGLT Tursiops truncatus Artiodactyla Exon(s) deletion Full Cetacea 10.1126/sciadv.aaw6671
GL_VZ32UZ Orcinus orca Artiodactyla Exon(s) deletion Full Cetacea 10.1126/sciadv.aaw6671