KEGG   Homo sapiens (human): 2548Help
Entry
2548              CDS       T01001                                 

Gene name
GAA, LYAG
Definition
(RefSeq) glucosidase alpha, acid
  KO
K12316  
lysosomal alpha-glucosidase [EC:3.2.1.20]
Organism
hsa  Homo sapiens (human)
Pathway
Galactose metabolism
Starch and sucrose metabolism
Metabolic pathways
Lysosome
Disease
H00069  
Glycogen storage diseases (GSD)
H01762  
Muscle glycogen storage disease
H01940  
Glycogen storage disease type II
Drug target
Acarbose: 
Emiglitate: 
Miglitol: 
Voglibose: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Carbohydrate metabolism
   00052 Galactose metabolism
    2548 (GAA)
   00500 Starch and sucrose metabolism
    2548 (GAA)
 Cellular Processes
  Transport and catabolism
   04142 Lysosome
    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 OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P10253(Tclin)
UniProt: 
Structure
PDB: 

Jmol
Position
17q25.3
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

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