| RareLSD_Id | 1032 |
| ENZYME | Cathepsin S |
| GENE | CTSS |
| E.C.NUMBER | 3.4.22.27 |
| FAMILY | Papain cysteine protease (C1) |
| CYTOGENETICS | 1q21 |
| DISEASE | cercarial dermatitis,corneal dystrophy, subepithel... |
| SNP | rs1000052625,rs1000106333,rs1000137095,rs1000281354,rs1000420635 |
| DEPOSIT | NA |
| REF | 19593952 , 1373132 |
| TEMP (in Celsius) | 25 |
| pI | 8.3 |
| pH | 4.5 |
| Catalytic Nucleophile | Cys25 |
Catalytic Acid/Base
| H2O |
| Substrate | Albumin + H2O |
| Product | NA |
| Structure(PDB/Phyre2_ID) | 5QBU |
| kM | 0.017 |
| DRUG | NA |
| SEQ LENGTH | 331 |
| AA SEQ | MKRLVCVLLVCSSAVAQLHKDPTLDHHWHLWKKTYGKQYKEKNEEAVRRLIWEKNLKFVMLHNLEHSMGMHSYDLGMNHLGDMTSEEVMSLMSSLRVPSQWQRNITYKSNPNRILPDSVDWREKGCVTEVKYQGSCGACWAFSAVGALEAQLKLKTGKLVSLSAQNLVDCSTEKYGNKGCNGGFMTTAFQYIIDNKGIDSDASYPYKAMDQKCQYDSKYRAATCSKYTELPYGREDVLKEAVANKGPVSVGVDARHPSFFLYRSGVYYEPSCTQNVNHGVLVVGYGDLNGKEYWLVKNSWGHNFGEEGYIRMARNKGNHCGIASFPSYPEI |
| MODIFICATION | N-linked Glycosylation:Asn104 |
| INHIBITOR | RO5461111,SAR114137,CLIK60,zDEVDcmk,AcYVADCMK,MK0674,APC2848,LHVS |
| ACTIVE SITE RESIDUE | Gln133,Cys139,His278,Asn298 |
| DISULPHIDE BRIDGES | *126-224,*136-180*,170-213,*272-320 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | CTSF,CTSL,CTSW,CTSV,CTSK,CTSS,CTSH,CTSC,CTSZ,CTSO |
| MECHANISM | less activity on ZPheArg|NHMec, and more activity on the ZValValArg|Xaa compound |
| INHERITANCE PATTERN | Autosomal Dominant |
| ORGAN AFFECTED | Eye |
| ENZYME LOCATION | OD |
| UniProt ID | P25774 |
