Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1027 |
| RareLSD_Id | 1027 |
| ENZYME | Cathepsin F |
| GENE | CTSF |
| E.C.NUMBER | 3.4.22.41 |
| FAMILY | Papain cysteine protease(C1) |
| CYTOGENETICS | 11q13.1q13.3 |
| DISEASE | Adult Onset Ceroid lipofuscinosis (Ceroid Lipofuscinosis, Neuronal, 13, Kufs Type) |
| SNP | rs143889283,rs397514731,rs397514732,rs397514733,rs753084727 |
| DEPOSIT | lipopigment |
| REF | 23297359 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 5.2 - 6.8 |
| Catalytic Nucleophile | Cys25 |
| Catalytic Acid/Base | H2O |
| Substrate | benzyloxycarbonylPheArg4methylcoumaryl7amide + H2O |
| Product | benzyloxycarbonylPheArg + 7amino4methylcoumarin |
| Structure(PDB/Phyre2_ID) | 1M6D |
| kM | 0.043 |
| DRUG | BRINEURA,Gemfibrozil |
| SEQ LENGTH | 484 |
| AA SEQ | MAPWLQLLSLLGLLPGAVAAPAQPRAASFQAWGPPSPELLAPTRFALEMFNRGRAAGTRAVLGLVRGRVRRAGQGSLYSLEATLEEPPCNDPMVCRLPVSKKTLLCSFQVLDELGRHVLLRKDCGPVDTKVPGAGEPKSAFTQGSAMISSLSQNHPDNRNETFSSVISLLNEDPLSQDLPVKMASIFKNFVITYNRTYESKEEARWRLSVFVNNMVRAQKIQALDRGTAQYGVTKFSDLTEEEFRTIYLNTLLRKEPGNKMKQAKSVGDLAPPEWDWRSKGAVTKVKDQGMCGSCWAFSVTGNVEGQWFLNQGTLLSLSEQELLDCDKMDKACMGGLPSNAYSAIKNLGGLETEDDYSYQGHMQSCNFSAEKAKVYINDSVELSQNEQKLAAWLAKRGPISVAINAFGMQFYRHGISRPLRPLCSPWLIDHAVLLVGYGNRSDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASS |
| MODIFICATION | N-linked Glycosylation:Asn160,Asn195,Asn367,Asn378,Asn440 |
| INHIBITOR | cruzipain propeptide,zDEVDcmk,AcYVADCMKBILDMK,diazomethane inhibitor of cysteine peptidases |
| ACTIVE SITE RESIDUE | Gln289,Cys295,His431,Asp451 |
| DISULPHIDE BRIDGES | *292-333,*326-366,*424-472 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | CTSO,CTSW,CTS,CTSK,CTSS,CTSH,CTSC,CTSZ,CTSL |
| MECHANISM | recombinant enzyme cleaves synthetic substrates with Phe and Leu (better than Val) in P2, with high specificity constant (k(cat)/K(m)) comparable to that of cathepsin L |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System |
| ENZYME LOCATION | OD |
| UniProt ID | Q9UBX1 |