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 |