Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1062 |
| RareLSD_Id | 1062 |
| ENZYME | Sialidase4 |
| GENE | NEU4 |
| E.C.NUMBER | 3.2.1.18 |
| FAMILY | GH33 |
| CYTOGENETICS | 2q37.3 |
| DISEASE | Galactosialidosis |
| SNP | rs1000377147,rs1000453104,rs1000825328,rs1000858144,rs1000905827 |
| DEPOSIT | sialic acid glycoconjugates |
| REF | 15885103, 15213228, 4027547 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 3.2 |
| Catalytic Nucleophile | Tyr419 |
| Catalytic Acid/Base | Asp |
| Substrate | alpha(26)sialyllactose + H2O |
| Product | sialic acid + lactose |
| Structure(PDB/Phyre2_ID) | 1A14 |
| kM | 1.67 |
| DRUG | NA |
| SEQ LENGTH | 484 |
| AA SEQ | MGVPRTPSRTVLFERERTGLTYRVPSLLPVPPGPTLLAFVEQRLSPDDSHAHRLVLRRGTLAGGSVRWGALHVLGTAALAEHRSMNPCPVHDAGTGTVFLFFIAVLGHTPEAVQIATGRNAARLCCVASRDAGLSWGSARDLTEEAIGGAVQDWATFAVGPGHGVQLPSGRLLVPAYTYRVDRRECFGKICRTSPHSFAFYSDDHGRTWRCGGLVPNLRSGECQLAAVDGGQAGSFLYCNARSPLGSRVQALSTDEGTSFLPAERVASLPETAWGCQGSIVGFPAPAPNRPRDDSWSVGPGSPLQPPLLGPGVHEPPEEAAVDPRGGQVPGGPFSRLQPRGDGPRQPGPRPGVSGDVGSWTLALPMPFAAPPQSPTWLLYSHPVGRRARLHMGIRLSQSPLDPRSWTEPWVIYEGPSGYSDLASIGPAPEGGLVFACLYESGARTSYDEISFCTFSLREVLENVPASPKPPNLGDKPRGCCWPS |
| MODIFICATION | NA |
| INHIBITOR | 5acetamido9-[4hydroxymethyl[1,2,3]triazol1yl]2,3,5,9-tetradeoxydglycerodgalacto2-nonulopyranosonic acid 4-acetamido5(2-phthamido)2-fluorobenzoic acid, 4,5-diacetamido2-fluorobenzoate |
| ACTIVE SITE RESIDUE | Asp47,Asp48Tyr419,Glu440 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NEU2,NEU3 |
| MECHANISM | Hydrolysis of the 6-sulfate groups of the N-acetylD-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System,HEart,Skin,Boness,Ear |
| ENZYME LOCATION | NMBH |
| UniProt ID | Q8WWR8 |