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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 |
|---|
| lysosome |
| lysosomal membrane |
| plasma membrane |
| membrane |
| intracellular membrane-bounded organelle |
| azurophil granule membrane |
| extracellular exosome |
| tertiary granule membrane |
| lysosomal lumen |
| ficolin-1-rich granule membrane |
| GO Term |
|---|
| carbohydrate binding |
| alpha-1,4-glucosidase activity |
| alpha-glucosidase activity |
| maltose alpha-glucosidase activity |
Sequence
MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC
Glycosylation Sites
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:0014667 | disease of metabolism | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050753 | cerebellar ataxia | |
| DOID:0060357 | chylomicron retention disease | |
| DOID:0080326 | familial hypertrophic cardiomyopathy | |
| DOID:0080482 | peroxisome biogenesis disorder 7A | |
| DOID:0080522 | thyroid gland anaplastic carcinoma | |
| DOID:0110106 | atrial heart septal defect 1 | |
| DOID:0110107 | atrial heart septal defect 2 | |
| DOID:0110108 | atrial heart septal defect 3 |
