Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1054 |
| RareLSD_Id | 1054 |
| ENZYME | Palmitoylprotein thioesterase 1 |
| GENE | PPT1 |
| E.C.NUMBER | 3.1.2.22 |
| FAMILY | palmitoylprotein thioesterase |
| CYTOGENETICS | 1-p34.2 |
| DISEASE | NCL (CLN1) |
| SNP | rs1012813914,rs1057515445,rs1057515446,rs1057515447,rs1057515448 |
| DEPOSIT | autofluorescent ceroid lipofuscin(palmitoyl peptides or palmitoylcysteine) |
| REF | 25253854, 25233404, 23581634, 9648881, 24997880247... |
| TEMP (in Celsius) | 22 |
| pI | NA |
| pH | 4 |
| Catalytic Nucleophile | Ser111 |
| Catalytic Acid/Base | Met41 , Gln116 |
| Substrate | palmitoylprotein + H2O |
| Product | palmitate + protein |
| Structure(PDB/Phyre2_ID) | 3GRO |
| kM | 0.00349 |
| DRUG | BUCCOLAM,Brivaracetam,Gemfibrozil |
| SEQ LENGTH | 306 |
| AA SEQ | MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEKKIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQFLRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERLVQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVDSEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAHIIPFLG |
| MODIFICATION | N-linked Glycosylation:Asn197,Asn212,Asn232,Ubiquitination:Lys174,Lys253 |
| INHIBITOR | 1-palmitoyl lysophosphatidylcholine, Chloroquine, leupeptin ,palmitoylpeptide |
| ACTIVE SITE RESIDUE | Ser115,Asp233,His289 |
| DISULPHIDE BRIDGES | *45-46,*96-128,*152-160 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | catalytic residues in PPT1, Ser115, Asp233, and His289 |
| PARALOGS | PPT2,EGFL8, |
| MECHANISM | N-sulfoD-glucosamine + H2O = D-glucosamine + sulfate |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System,Boness,Head,Eye |
| ENZYME LOCATION | OD |
| UniProt ID | P50897 |