Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1020 |
| RareLSD_Id | 1020 |
| ENZYME | Beta Glucuronidase |
| GENE | GUSB |
| E.C.NUMBER | 3.2.1.31 |
| FAMILY | GH2 |
| CYTOGENETICS | 7q11.21 |
| DISEASE | MPS type VII (Sly syndrome) |
| SNP | rs1061361,rs1085307069,rs121918172 rs121918173,rs121918174,rs121918175,rs121918176 |
| DEPOSIT | Dermatan sulfate (DS), heparan sulfate (HS),and chondroitin sulfate (CS)) |
| REF | 16272959 , 12522561 , 3468507 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 4.5 |
| Catalytic Nucleophile | Glu537 |
| Catalytic Acid/Base | Glu451 |
| Substrate | beta-D-glucuronoside + H2O |
| Product | D-glucurote + an alcohol |
| Structure(PDB/Phyre2_ID) | 3HN3 |
| kM | 0.041 |
| DRUG | MEPSE VII |
| SEQ LENGTH | 651 |
| AA SEQ | MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT |
| MODIFICATION | N-linked Glycosylation:Asn173,Asn272,Asn420,Asn631,Ubiquitination:Lys39,Lys641 |
| INHIBITOR | 1,1'(3-methyl4-phenylthieno[2,3b]thiophene2,5-diyl)bis(4,4,4-triethoxybut2en1one),Ag+,ascorbic acid,Cu2+,D-saccharic acid 1,4-lactone,estradiol 3-glucuronide,Hg2+,fucoxanthin,glycyrrhizin,L-aspartic acid |
| ACTIVE SITE RESIDUE | Glu451 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | PGOHUM00000250322,PGOHUM00000246093,PGOHUM00000261906,PGOHUM00000261907,PGOHUM00000261908 |
| MISCELLANEOUS | N-linked glycosylated with 3 to 4 oligosaccharide chains |
| PARALOGS | NA |
| MECHANISM | Classical Koshland double-displacement mechanism |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Ear,Skin,Eye,HEart,Boness,Liver,Lungs,Hair,Nervous System,Kidney,Spleen |
| ENZYME LOCATION | NMBH |
| UniProt ID | P08236 |