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MGP000731

UniProt Annotations

Entry Information
Gene Namecathepsin K
Protein EntryCATK_HUMAN
UniProt IDP43235
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityBroad proteolytic activity. With small- molecule substrates and inhibitors, the major determinant of specificity is P2, which is preferably Leu, Met > Phe, and not Arg.
DiseasePycnodysostosis (PKND) [MIM:265800]: A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone. {ECO:0000269|PubMed:10491211, ECO:0000269|PubMed:10878663, ECO:0000269|PubMed:8703060, ECO:0000269|PubMed:9529353}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionClosely involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation.
SimilarityBelongs to the peptidase C1 family. {ECO:0000255|PROSITE-ProRule:PRU10088, ECO:0000255|PROSITE- ProRule:PRU10089, ECO:0000255|PROSITE-ProRule:PRU10090}.
Subcellular LocationLysosome.
Tissue SpecificityPredominantly expressed in osteoclasts (bones).
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