Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1060 |
| RareLSD_Id | 1060 |
| ENZYME | Sialate O-acetylesterase |
| GENE | SIAE |
| E.C.NUMBER | 3.1.1.53 |
| FAMILY | Hydrolyases |
| CYTOGENETICS | 11q24.2 |
| DISEASE | Autoimmune disease 6 (AIS6) |
| SNP | rs143070599,rs144510878,rs149466359,rs200862001,rs201877149 |
| DEPOSIT | NA |
| REF | 20555325 , 14702039, 551583, 2626685, 2900412 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 7.8 |
| Catalytic Nucleophile | NA |
| Catalytic Acid/Base | NA |
| Substrate | NacetylOacetylneuramite + H(2)O |
| Product | Nacetylneuramite + acetate |
| Structure(PDB/Phyre2_ID) | IFLC |
| kM | NA |
| DRUG | NA |
| SEQ LENGTH | 502 |
| AA SEQ | MVAPGLVLGLVLPLILWADRSAGIGFRFASYINNDMVLQKEPAGAVIWGFGTPGATVTVTLRQGQETIMKKVTSVKAHSDTWMVVLDPMKPGGPFEVMAQQTLEKINFTLRVHDVLFGDVWLCSGQSNMQMTVLQIFNATRELSNTAAYQSVRILSVSPIQAEQELEDLVAVDLQWSKPTSENLGHGYFKYMSAVCWLFGRHLYDTLQYPIGLIASSWGGTPIEAWSSGRSLKACGVPKQGSIPYDSVTGPSKHSVLWNAMIHPLCNMTLKGVVWYQGESNINYNTDLYNCTFPALIEDWRETFHRGSQGQTERFFPFGLVQLSSDLSKKSSDDGFPQIRWHQTADFGYVPNPKMPNTFMAVAMDLCDRDSPFGSIHPRDKQTVAYRLHLGARALAYGEKNLTFEGPLPEKIELLAHKGLLNLTYYQQIQVQKKDNKIFEISCCSDHRCKWLPASMNTVSTQSLTLAIDSCHGTVVALRYAWTTWPCEYKQCPLYHPSSALPAPPFIAFITDQGPGHQSNVAK |
| MODIFICATION | N-linked Glycosylation:Asn107,Asn138,Asn267,Asn290,Asn401,Asn422 |
| INHIBITOR | 2,3-Butanedione;Phenylglyoxal;PMSF;di-isopropyl fluorophosphate |
| ACTIVE SITE RESIDUE | NA |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | NA |
| INHERITANCE PATTERN | NA |
| ORGAN AFFECTED | Boness |
| ENZYME LOCATION | OD |
| UniProt ID | Q9HAT2 |