Names & Taxonomy
- Uniprot ID:
- P10253
- Entry Name:
- LYAG_HUMAN
- Status:
- reviewed
- Protein Names:
- Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid maltase) (Aglucosidase alfa) [Cleaved into: 76 kDa lysosomal alpha-glucosidase; 70 kDa lysosomal alpha-glucosidase]
- Gene Names:
- GAA
- Gene Names Primary:
- GAA
- Organism:
- Homo sapiens (Human)
Structure
- Length:
- 952
- Sequence:
- MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC
- Proteomes:
- UP000005640
Subcellular location
- Subcellular Location:
- Lysosome
Function
- Function:
- Essential for the degradation of glygogen to glucose in lysosomes.
- Catalytic Activity:
- Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.
- Active Site:
- ACT_SITE 518 518 Nucleophile.
- Cross Reference Drug Bank:
- DB00284 DB00491
- Gene Ontology Go:
- extracellular exosome
lysosomal lumen
lysosomal membrane
lysosome
membrane
alpha-1,4-glucosidase activity
carbohydrate binding
maltose alpha-glucosidase activity
carbohydrate metabolic process
cardiac muscle contraction
diaphragm contraction
glucose metabolic process
glycogen catabolic process
heart morphogenesis
locomotory behavior
lysosome organization
maltose metabolic process
muscle cell cellular homeostasis
neuromuscular process controlling balance
neuromuscular process controlling posture
regulation of the force of heart contraction
small molecule metabolic process
sucrose metabolic process
tissue development
vacuolar sequestering - Gene Ontology Biological Process:
- carbohydrate metabolic process
cardiac muscle contraction
diaphragm contraction
glucose metabolic process
glycogen catabolic process
heart morphogenesis
locomotory behavior
lysosome organization
maltose metabolic process
muscle cell cellular homeostasis
neuromuscular process controlling balance
neuromuscular process controlling posture
regulation of the force of heart contraction
small molecule metabolic process
sucrose metabolic process
tissue development
vacuolar sequestering - Gene Ontology Molecular Function:
- alpha-1,4-glucosidase activity
carbohydrate binding
maltose alpha-glucosidase activity - Gene Ontology Cellular Component:
- extracellular exosome
lysosomal lumen
lysosomal membrane
lysosome
membrane - Keywords:
- Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Glycogen storage disease
Glycoprotein
Glycosidase
Hydrolase
Lysosome
Membrane
Phosphoprotein
Polymorphism
Reference proteome
Signal
Publication
- PubMed ID:
- 3049072 2268276 2111708 16625196 15489334 7695647 1856189 8435067 12754519 7603530 16335952 17897319 19159218 21269460 24275569 25944712 2203258 1652892 1898413 8401535 8094613 1684505 8486380 7866409 7981676 7881422 7717400 8912788 8834250 9535769 9660056 9521422 10206684 10737124 10189220 10338092 11071489 11738358 12923862 12601120 14643388 14695532 14972326 15145338 15668445 16782080 16433701 16917947 17643989 18425781 18429042 19588081 20350966 20080426 21109266 22644586 22676651 25681614