Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1030 |
| RareLSD_Id | 1030 |
| ENZYME | Cathepsin L1 |
| GENE | CTSL1 |
| E.C.NUMBER | 3.4.22.15 |
| FAMILY | Papain cysteine protease (C1) |
| CYTOGENETICS | 9q21q22 |
| DISEASE | eccrine acrospiroma,gingival overgrowth |
| SNP | rs1000652961,rs1001064493,rs1001286387,rs1001584129,rs1002182287 |
| DEPOSIT | NA |
| REF | 9141479 , 8419312 , 8896443 |
| TEMP (in Celsius) | 37 |
| pI | 4.7 |
| pH | 4.5-5.5 |
| Catalytic Nucleophile | Cys25 |
| Catalytic Acid/Base | H2O |
| Substrate | 2aminobenzoylAlaLeuArgSerSerLysGlnN(2,4dinitrophenyl)ethylenediamine |
| Product | 2aminobenzoylLysLeuAla + SerSerLysGlnN(2,4dinitrophenyl)ethylenediamine |
| Structure(PDB/Phyre2_ID) | 1CS8 |
| kM | 0.00045 |
| DRUG | NA |
| SEQ LENGTH | 333 |
| AA SEQ | MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAFGDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRSVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLISLSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVATVGPISVAIDAGHESFLFYKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDNNKYWLVKNSWGEEWGMGGYVKMAKDRRNHCGIASAASYPTV |
| MODIFICATION | N-linked Glycosylation:Asn221, Asp 268 |
| INHIBITOR | protein C inhibitor,endopin 2C,cystatin A,B,C,D,E/M,F,ovocystatin,CLIK195,gallimide A,CLIK148,zDEVDcmk |
| ACTIVE SITE RESIDUE | Gln132,Cys138,His276,Asn300 |
| DISULPHIDE BRIDGES | *135-178,*169-211,*269-322 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | CTSF,CTSO,CTSW,CTSV,CTSK,CTSS,CTSH,CTSC,CTSZ |
| MECHANISM | higher activity toward protein substrates, but has little activity on ZArgArgNHMec |
| INHERITANCE PATTERN | Autosomal Dominant |
| ORGAN AFFECTED | Teeth |
| ENZYME LOCATION | OD |
| UniProt ID | P07711 |