Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1015 |
| RareLSD_Id | 1015 |
| ENZYME | Alphacetylglucosaminidase |
| GENE | NAGLU |
| E.C.NUMBER | 3.2.1.50 |
| FAMILY | GH89 |
| CYTOGENETICS | 17q21.2 |
| DISEASE | Sanfilippo syndrome type B,CharcotMarieTooth disease |
| SNP | VAR_074607,rs2009096911,VAR_0547224,VAR_0547044,rs483352896,rs483352896,rs104894590,rs104894591,rs104894592 |
| DEPOSIT | Heparan sulfate |
| REF | 9443875, 1376807 |
| TEMP (in Celsius) | 37 |
| pI | 5.1 |
| pH | 4.2 |
| Catalytic Nucleophile | Glu601 |
| Catalytic Acid/Base | Glu483 |
| Substrate | UDP-N-acetylalpha-D-glucosamine + H2O |
| Product | uridine5'diphosphate + N-acetylalphaD-glucosamine |
| Structure(PDB/Phyre2_ID) | 4XWH |
| kM | 0.39 |
| DRUG | NA |
| SEQ LENGTH | 743 |
| AA SEQ | MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKPGLDTYSLGGGGAARVRVRGSTGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGELTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYLALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQFWGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGALEAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAARRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAWRLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAYELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYANKQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPRGDTVDLAKKIFLKYYPRWVAGSW |
| MODIFICATION | N-linked Glycosylation:Asn261,Asn272,Asn43,Asn503,Asn526,Asn532,Ubiquitination:Lys59 |
| INHIBITOR | 2-acetamido1,2-dideoxynojirimycin,6-acetamido6-deoxycastanospermine,Dermatan sulfate,iodoacetate,mouse antiserum,p-chloromercuribenzoate |
| ACTIVE SITE RESIDUE | His270,Gln355,His356,Gln359,Arg510,Arg519,Asn134,Cys136,Tyr140,Trp201,Met204,Trp268,Asn315,Glu316,Trp352,Leu383,Leu407,Phe410,Glu446,His512,Trp649,Ile655,Tyr658 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | Classical Koshland retaining mechanism |
| INHERITANCE PATTERN | Autosomal Dominant |
| ORGAN AFFECTED | Nervous System |
| ENZYME LOCATION | NMBH |
| UniProt ID | P54802 |