| RareLSD_Id | 1065 |
| ENZYME | Tripeptidylpeptidase I |
| GENE | TPPI |
| E.C.NUMBER | 3.4.14.9 |
| FAMILY | peptidase S53 domain |
| CYTOGENETICS | 11-p15.4 |
| DISEASE | Neuronal Ceroid Lipofuscinosis2,Autosomal Recessive |
| SNP | rs1029334403,rs1044739961,rs1045450,rs1048574242,rs1057516264 |
| DEPOSIT | autofluorescent ceroid lipopigments |
| REF | 9653647, 23418007 |
| TEMP (in Celsius) | 22 |
| pI | NA |
| pH | 4 |
| Catalytic Nucleophile | NA |
Catalytic Acid/Base
| NA |
| Substrate | palmitoylprotein + H2O |
| Product | palmitate + protein |
| Structure(PDB/Phyre2_ID) | 3EE6 |
| kM | 0.00349 |
| DRUG | BRINEURA,Gemfibrozil, Recombinant human tripeptidylpeptidase 1 |
| SEQ LENGTH | 563 |
| AA SEQ | MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLPQALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP |
| MODIFICATION | N-linked Glycosylation:Asn210,Asn222,Asn286,Asn313,Asn443 |
| INHIBITOR | 1-palmitoyl lysophosphatidylcholine,Chloroquine,D-idemnin B,leupeptin,palmitoylpeptide |
| ACTIVE SITE RESIDUE | Glu272,Asp276,Ser475 |
| DISULPHIDE BRIDGES | *111-122,*365-526,*522-537 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | Release of an N-terminal tripeptide from a polypeptide, but also has endopeptidase activity |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Eye,Nervous System |
| ENZYME LOCATION | OD |
| UniProt ID | O14773 |
