The KLK1 gene (KLK1 stands for: Kallikrein 1) is a protein-coding gene located on chromosome 19q13.33. The encoded kallikrein-1 belongs to a subgroup of serine proteases with diverse physiological functions. There is increasing evidence that many kallikreins are involved in carcinogenesis, and some have the potential to be novel biomarkers for various tumors and other diseases. tumor diseases as well as other diseases. An important paralog of this gene is KLK2.
KLK1 gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The KLK1 gene is one of the fifteen members of the kallikrein subfamily located in a cluster on chromosome 19. The encoded enzyme is functionally conserved in its ability to release the vasoactive peptide Lys-bradykinin from low molecular weight kininogen.
Diseases associated with KLK1 include vascular dementia.
Related pathways include trimerization of collagen chains and regulation of insulin-like growth factor (IGF) transport and uptake by insulin-like growth factor binding proteins (IGFBPs). Glandular kallikreins cleave Met-Lys and Arg-Ser bonds into kininogen to release Lys-bradykinin.
Furthermore, this serine peptidase has been shown to cleave Neisseria meningitidis NHBA in saliva. Neisseria is an obligate commensal of the nasopharyngeal mucosa.
LiteratureThis section has been translated automatically.
- Azizi M et al. (2005) Arterial and renal consequences of partial genetic deficiency in tissue kallikrein activity in humans. J Clin Invest 115: 780-787.
- Fujita T et al. (2013) A common polymorphism in the tissue kallikrein gene is associated with increased urinary excretions of calcium and sodium in Japanese volunteers. J Hum Genet 58: 758-761.
- Slim R et al. (2002) Loss-of-function polymorphism of the human kallikrein gene with reduced urinary kallikrein activity. J Am Soc Nephrol 13: 968-976.