Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1006 |
| RareLSD_Id | 1006 |
| ENZYME | Acid alpha-glucosidase |
| GENE | GAA |
| E.C.NUMBER | 3.2.1.20 |
| FAMILY | GH31 |
| CYTOGENETICS | 17q25.3 |
| DISEASE | POMPE DISEASE |
| SNP | rs118204435,rs118204436,rs118204437,rs1800299,rs121907937,rs28937909,rs121907938,rs386834236,rs28940868,rs1800309,rs386834235,rs121907943,rs121907944,rs121907945,rs1800317,rs1800304,rs2278619,rs1800305,rs2304844,rs398123169,rs1042396,rs1800307,rs2304840,rs398123170,rs2304836,rs398123171,rs398123172 |
| DEPOSIT | glycogen |
| REF | 388444, 7717400 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 4 -4.5 |
| Catalytic Nucleophile | Asp224 |
| Catalytic Acid/Base | Asp647 |
| Substrate | maltose + H2O |
| Product | D-glucose |
| Structure(PDB/Phyre2_ID) | 5NN3 |
| kM | 1.59 - 10 |
| DRUG | NA |
| SEQ LENGTH | 952 |
| AA SEQ | MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC |
| MODIFICATION | N-linked Glycosylation:Ser46,Thr52,Ser61,Asn140,Asn233Asn390,Asn470,Asn652,Asn882,Asn925 |
| INHIBITOR | N-methyldeoxynojirimycin,N-butyldeoxynojirimycin,myricetin,maltotriose,glycogen,conduritol B epoxide,Broussochalcone A/B,1-deoxynojirimycin,3,4dihydroxyisolonchocarpin |
| ACTIVE SITE RESIDUE | Asp518,Glu521 |
| DISULPHIDE BRIDGES | *82-109,*92-108,*533-558,*647-658 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | Maltase Glucoamylase (Alpha AGlucosidase) Pseudoge... |
| MECHANISM | Koshland double displacement mechanismhydrolysis of alpha1? 4 glucosidic linkages in glycogen |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Lungs, Ear, Boness, Nervous System |
| ENZYME LOCATION | NMBH |
| UniProt ID | P10253 |