Homo sapiens (human): 2548 Help Entry 2548              CDS       T01001                                  Symbol GAA, LYAG Name (RefSeq) alpha glucosidase   KO K12316   lysosomal alpha-glucosidase [EC:3.2.1.20] Organism hsa  Homo sapiens (human) Pathway hsa00052   Galactose metabolism hsa00500   Starch and sucrose metabolism hsa01100   Metabolic pathways hsa04142   Lysosome Network nt06017  Glycogen metabolism   Element N00720   Glycogen degradation (amylase) Disease H00069   Glycogen storage disease H01762   Muscle glycogen storage disease H01940   Glycogen storage disease type II Drug target Acarbose:  D00216<JP/US> Alglucosidase alfa:  D03207<JP/US> Avalglucosidase alfa:  D11744<JP/US> Cipaglucosidase alfa:  D11798<US> Clervonafusp alfa:  D11828 Duvoglustat (DG01280):  D09605 D09606 Emiglitate:  D09779 Miglitol:  D00625<JP/US> Voglibose:  D01665<JP> Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09101 Carbohydrate metabolism    00052 Galactose metabolism     2548 (GAA)    00500 Starch and sucrose metabolism     2548 (GAA)  09140 Cellular Processes   09141 Transport and catabolism    04142 Lysosome     2548 (GAA)  09180 Brite Hierarchies   09183 Protein families: signaling and cellular processes    04147 Exosome [BR:hsa04147]     2548 (GAA) Enzymes [BR:hsa01000]  3. Hydrolases   3.2  Glycosylases    3.2.1  Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds     3.2.1.20  alpha-glucosidase      2548 (GAA) Exosome [BR:hsa04147]  Exosomal proteins   Exosomal proteins of other body fluids (saliva and urine)    2548 (GAA) BRITE hierarchy SSDB OrthologParalogGene clusterGFIT Motif Pfam:  Glyco_hydro_31_2nd Glyco_hydro_31_3rd Trefoil Gal_mutarotas_2 DUF5110 Motif Other DBs NCBI-GeneID:  2548 NCBI-ProteinID:  NP_000143 OMIM:  606800 HGNC:  4065 Ensembl:  ENSG00000171298 UniProt:  P10253 Structure PDBPDBj LinkDB All DBs Position 17:80101581..80119881 Genome browser AA seq 952 aa AA seqDB search MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGA SRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGA QMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLH FTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLF FADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLA LEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGY PFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDG FRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKV WPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELEN PPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISR STFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVR WTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAG ETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPV EALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQP MALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQ LQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC NT seq 2859 nt NT seq  +upstreamnt  +downstreamnt atgggagtgaggcacccgccctgctcccaccggctcctggccgtctgcgccctcgtgtcc ttggcaaccgctgcactcctggggcacatcctactccatgatttcctgctggttccccga gagctgagtggctcctccccagtcctggaggagactcacccagctcaccagcagggagcc agcagaccagggccccgggatgcccaggcacaccccggccgtcccagagcagtgcccaca cagtgcgacgtcccccccaacagccgcttcgattgcgcccctgacaaggccatcacccag gaacagtgcgaggcccgcggctgttgctacatccctgcaaagcaggggctgcagggagcc cagatggggcagccctggtgcttcttcccacccagctaccccagctacaagctggagaac ctgagctcctctgaaatgggctacacggccaccctgacccgtaccacccccaccttcttc cccaaggacatcctgaccctgcggctggacgtgatgatggagactgagaaccgcctccac ttcacgatcaaagatccagctaacaggcgctacgaggtgcccttggagaccccgcatgtc cacagccgggcaccgtccccactctacagcgtggagttctccgaggagcccttcggggtg atcgtgcgccggcagctggacggccgcgtgctgctgaacacgacggtggcgcccctgttc tttgcggaccagttccttcagctgtccacctcgctgccctcgcagtatatcacaggcctc gccgagcacctcagtcccctgatgctcagcaccagctggaccaggatcaccctgtggaac cgggaccttgcgcccacgcccggtgcgaacctctacgggtctcaccctttctacctggcg ctggaggacggcgggtcggcacacggggtgttcctgctaaacagcaatgccatggatgtg gtcctgcagccgagccctgcccttagctggaggtcgacaggtgggatcctggatgtctac atcttcctgggcccagagcccaagagcgtggtgcagcagtacctggacgttgtgggatac ccgttcatgccgccatactggggcctgggcttccacctgtgccgctggggctactcctcc accgctatcacccgccaggtggtggagaacatgaccagggcccacttccccctggacgtc cagtggaacgacctggactacatggactcccggagggacttcacgttcaacaaggatggc ttccgggacttcccggccatggtgcaggagctgcaccagggcggccggcgctacatgatg atcgtggatcctgccatcagcagctcgggccctgccgggagctacaggccctacgacgag ggtctgcggaggggggttttcatcaccaacgagaccggccagccgctgattgggaaggta tggcccgggtccactgccttccccgacttcaccaaccccacagccctggcctggtgggag gacatggtggctgagttccatgaccaggtgcccttcgacggcatgtggattgacatgaac gagccttccaacttcatcaggggctctgaggacggctgccccaacaatgagctggagaac ccaccctacgtgcctggggtggttggggggaccctccaggcggccaccatctgtgcctcc agccaccagtttctctccacacactacaacctgcacaacctctacggcctgaccgaagcc atcgcctcccacagggcgctggtgaaggctcgggggacacgcccatttgtgatctcccgc tcgacctttgctggccacggccgatacgccggccactggacgggggacgtgtggagctcc tgggagcagctcgcctcctccgtgccagaaatcctgcagtttaacctgctgggggtgcct ctggtcggggccgacgtctgcggcttcctgggcaacacctcagaggagctgtgtgtgcgc tggacccagctgggggccttctaccccttcatgcggaaccacaacagcctgctcagtctg ccccaggagccgtacagcttcagcgagccggcccagcaggccatgaggaaggccctcacc ctgcgctacgcactcctcccccacctctacacactgttccaccaggcccacgtcgcgggg gagaccgtggcccggcccctcttcctggagttccccaaggactctagcacctggactgtg gaccaccagctcctgtggggggaggccctgctcatcaccccagtgctccaggccgggaag gccgaagtgactggctacttccccttgggcacatggtacgacctgcagacggtgccagta gaggcccttggcagcctcccacccccacctgcagctccccgtgagccagccatccacagc gaggggcagtgggtgacgctgccggcccccctggacaccatcaacgtccacctccgggct gggtacatcatccccctgcagggccctggcctcacaaccacagagtcccgccagcagccc atggccctggctgtggccctgaccaagggtggggaggcccgaggggagctgttctgggac gatggagagagcctggaagtgctggagcgaggggcctacacacaggtcatcttcctggcc aggaataacacgatcgtgaatgagctggtacgtgtgaccagtgagggagctggcctgcag ctgcagaaggtgactgtcctgggcgtggccacggcgccccagcaggtcctctccaacggt gtccctgtctccaacttcacctacagccccgacaccaaggtcctggacatctgtgtctcg ctgttgatgggagagcagtttctcgtcagctggtgttag

DBGET integrated database retrieval system