KEGG   Homo sapiens (human): 2548
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)
SSDB
Motif
Pfam: Glyco_hydro_31_2nd Glyco_hydro_31_3rd Trefoil Gal_mutarotas_2 DUF5110
Other DBs
NCBI-GeneID: 2548
NCBI-ProteinID: NP_000143
OMIM: 606800
HGNC: 4065
Ensembl: ENSG00000171298
UniProt: P10253
Structure
Position
17:80101581..80119881
AA seq 952 aa
MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGA
SRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGA
QMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLH
FTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLF
FADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLA
LEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGY
PFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDG
FRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKV
WPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELEN
PPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISR
STFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVR
WTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAG
ETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPV
EALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQP
MALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQ
LQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC
NT seq 2859 nt   +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

  All links  
Disease (2)   
   OMIM (2)   
Gene (22)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (10)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (50)   
   RefSeq(nuc) (8)   
   GenBank (21)   
   EMBL (21)   
3D Structure (10)   
   PDB (10)   
Protein domain (5)   
   Pfam (5)   
All databases (98)   

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