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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Lysosomal alpha-glucosidase
Summary
- UniProt ID
- P10253
- Gene Symbol
-
- GAA
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0011466
- GlyConnect
- GlyGen
- P10253
- PubChem
- P10253
- The Human Metabolome Database
- HMDBP01817
- The O-GlcNAc Database
- P10253
- RaftProt
- P10253
- O-GlcNAcAtlas
- P10253
Annotation
- Keyword
-
- 3D-structure
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Glycogen storage disease
- Glycoprotein
- Glycosidase
- Lysosome
- Membrane
- Phosphoprotein
- Reference proteome
- Signal
- Gene Ontology (GO)
| GO Term |
|---|
| tertiary granule membrane |
| GO Term |
|---|
| carbohydrate binding |
| alpha-1,4-glucosidase activity |
| alpha-glucosidase activity |
| maltose alpha-glucosidase activity |
Sequence
MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| GSD II | Homo sapiens |
| Glycogen breakdown (glycogenolysis) | Homo sapiens |
| Neutrophil degranulation | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:11723 | Duchenne muscular dystrophy | |
| DOID:11724 | limb-girdle muscular dystrophy | |
| DOID:11727 | facioscapulohumeral muscular dystrophy | |
| DOID:11984 | hypertrophic cardiomyopathy | |
| DOID:12704 | ataxia telangiectasia | |
| DOID:12705 | Friedreich ataxia | |
| DOID:1289 | neurodegenerative disease | |
| DOID:12932 | endomyocardial fibrosis | |
| DOID:13620 | patent foramen ovale | |
| DOID:14499 | Fabry disease |
