| RareLSD_Id | 1058 |
| ENZYME | Protective protein (cathepsin A) |
| GENE | CTSA |
| E.C.NUMBER | 3.4.16.5 |
| FAMILY | peptidase S10 |
| CYTOGENETICS | 20q13.12 |
| DISEASE | Galactosialidosis |
| SNP | rs116893852,rs117529875,rs137854540,rs137854541,rs... |
| DEPOSIT | glycoprotein |
| REF | 23915561, 6812049, 19097920 |
| TEMP (in Celsius) | 27 |
| pI | 5.5 |
| pH | 4.5 |
| Catalytic Nucleophile | Ser178 |
Catalytic Acid/Base
| Asp400,His457 |
| Substrate | CBZPheLeu + H2O |
| Product | N-benzyloxycarbonyl-L-Phe + L-leucine |
| Structure(PDB/Phyre2_ID) | 4CI9 |
| kM | 0.04 |
| DRUG | NA |
| SEQ LENGTH | 480 |
| AA SEQ | MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY |
| MODIFICATION | N-linked Glycosylation:Asn145,Asn333,Ubiquitination:Lys429 |
| INHIBITOR | (S)1-chloro4-phenyl3-tosylamido2-butanone,3,4-dichloroisocoumarin chymostatin,ebelactone B,piperastatin A,poststatin |
| ACTIVE SITE RESIDUE | Ser178,Asp400,His457 |
| DISULPHIDE BRIDGES | *88-362,*240-256,*241-246,*281-331 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | Loss of function of PPCA/CTSA results in the secondary combined deficiency of GLB1 and NEU1, which is the biochemical hallmark of the Galactosialidosis |
| PARALOGS | CPVL |
| MECHANISM | NA |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System,Boness,Skin,HEart,Ear |
| ENZYME LOCATION | NMBH |
| UniProt ID | P10619 |
