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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 |
|---|
| tissue development |
| aorta development |
| muscle cell cellular homeostasis |
| neuromuscular process controlling posture |
| neuromuscular process controlling balance |
| cardiac muscle contraction |
| glycophagy |
| GO Term |
|---|
| lysosomal lumen |
| ficolin-1-rich granule membrane |
| autolysosome lumen |
| lysosome |
| lysosomal membrane |
| plasma membrane |
| membrane |
| intracellular membrane-bounded organelle |
| azurophil granule membrane |
| extracellular exosome |
| GO Term |
|---|
| alpha-1,4-glucosidase activity |
| alpha-glucosidase activity |
| maltose alpha-glucosidase activity |
| carbohydrate binding |
Sequence
MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 41 |
|
|||
| 46 |
|
|||
| 52 |
|
|||
| 61 |
|
|||
| 140 | N-linked (GlcNAc...) asparagine | |||
| 142 |
|
|||
| 144 |
|
|||
| 149 |
|
|||
| 151 |
|
|||
| 153 |
|
G57321FI
G66537LK
G29545VG
G30084YQ
G96430BV
G14343MU
G83633GK
G62765YT
G05049YU
G90734RJ
G31852PQ
G90575OW
G03238UC
G39446WN
G39188ZX
G41247ZX
G25637MV
G50282JC
G57776ZU
G02815KT
G06110VR
G84349RE
G57317CE
G92050GC
G74724QE
G92275SC
G14669DU
G28681TP
G98129XB
G49108TO
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 |
