Details of RareLSD ID 1029 |
RareLSD_Id | 1029 |
ENZYME | Cathepsin K |
GENE | CTSK |
E.C.NUMBER | 3.4.22.38 |
FAMILY | Papain cysteine protease (C1) |
CYTOGENETICS | 1q21 |
DISEASE | Pycnodysostosis (PKND) |
SNP | rs1057516514,rs1057516587,rs1057516627,rs1057516725,rs1057516790 |
DEPOSIT | bone matrix proteins,type I and type II collagen, osteopontin, and osteonectin increased bone mineral density |
REF | 1049121 , 125731710 |
TEMP (in Celsius) | 22 |
pI | NA |
pH | 4-7.5 |
Catalytic Nucleophile | Cys25 |
Catalytic Acid/Base | H2O |
Substrate | aggrecan + H2O |
Product | NA |
Structure(PDB/Phyre2_ID) | 3C9E |
kM | 0.16 |
DRUG | ACTIMMUNE |
SEQ LENGTH | 329 |
AA SEQ | MWGLKVLLLPVVSFALYPEEILDTHWELWKKTHRKQYNNKVDEISRRLIWEKNLKYISIHNLEASLGVHTYELAMNHLGDMTSEEVVQKMTGLKVPLSHSRSNDTLYIPEWEGRAPDSVDYRKKGYVTPVKNQGQCGSCWAFSSVGALEGQLKKKTGKLLNLSPQNLVDCVSENDGCGGGYMTNAFQYVQKNRGIDSEDAYPYVGQEESCMYNPTGKAAKCRGYREIPEGNEKALKRAVARVGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNHAVLAVGYGIQKGNKHWIIKNSWGENWGNKGYILMARNKNNACGIANLASFPKM |
MODIFICATION | N-linked Glycosylation:Asn103 |
INHIBITOR | ODN,VEL0230,myocrisin,NSC13345,AZD4996,SAR114137,macrocypin (1,3,4),serpin B13,OST4077,SB 331750,relacatib,balicatib,SB553484,AZ12606133,CLIK071,CLIK162,CLIK163,ONO5334,ONOKK130001 |
ACTIVE SITE RESIDUE | Gln133,Cys139,His276,Asn296 |
DISULPHIDE BRIDGES | *136-177,*170-210,*269-318 |
PSEUDOGENES | NA |
MISCELLANEOUS | NA |
PARALOGS | CTSF,CTSO,CTSW,CTSV,CTSS,CTSC,CTSZ ,CTSL |
MECHANISM | Broad proteolytic activity. With smallmolecule substrates and inhibitors, the major determinant of specificity is P2, which is preferably Leu, Met > Phe, and not Arg |
INHERITANCE PATTERN | Autosomal recessive |
ORGAN AFFECTED | Head,Nose,Teeth,,Boness,Skin,Hair |
ENZYME LOCATION | OD |
UniProt ID | P43235 |