Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1019 |
| RareLSD_Id | 1019 |
| ENZYME | Beta Galactosidase 1 |
| GENE | GLB1 |
| E.C.NUMBER | 3.2.1.23 |
| FAMILY | GH35 |
| CYTOGENETICS | 3p22.3 |
| DISEASE | GM1gangliosidis, MPS type IVB (Morquio syndrome) |
| SNP | rs113534264 ,rs115554377,rs12167,rs13093698 ,rs139730198,rs72555391,rs72555366,rs794727165,rs72555359,rs72555390,rs72555362,rs72555391,rs72555363,rs72555393,rs72555364 |
| DEPOSIT | keratan sulfate ,chondroitin6sulfate |
| REF | 17309651 , 17664528 , 16538002 |
| TEMP (in Celsius) | 37 |
| pI | 5.6 |
| pH | 4.5-5.5 |
| Catalytic Nucleophile | Glu268 |
| Catalytic Acid/Base | Glu188 |
| Substrate | a beta-D-galactoside + H2O |
| Product | D-galactose + an alcohol |
| Structure(PDB/Phyre2_ID) | 3WEZ |
| kM | 0.59 |
| DRUG | Elosulfase alfa,VIMIZIM |
| SEQ LENGTH | 677 |
| AA SEQ | MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRVPRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRTTLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV |
| MODIFICATION | N-linked Glycosylation:Asn26,Asn247,Asn464,Asn498,Asn542,Asn545,Asn555 |
| INHIBITOR | NA |
| ACTIVE SITE RESIDUE | Glu188,Glu268 |
| DISULPHIDE BRIDGES | *195-230*626-634 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | GLB1L,GLB1L3,GLB1L2 |
| MECHANISM | Classical Koshland retaining mechanism |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Ear,Eye,HEart,Boness,Liver,Spleen,Hair,Head,Nervous System |
| ENZYME LOCATION | NMBH |
| UniProt ID | P16278 |