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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
alpha glucosidase
Summary
- Gene Symbol
-
- GAA
- Aliases
-
- Pompe disease
- glycogen storage disease type II
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Glycogen storage disease
- Glycoprotein
- Glycosidase
- Lysosome
- Membrane
- Phosphoprotein
- Reference proteome
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| P10253 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| neuromuscular process controlling posture | ||
| glycophagy | ||
| tissue development | ||
| glucose metabolic process | ||
| heart morphogenesis |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| ficolin-1-rich granule membrane | ||
| membrane | ||
| autolysosome lumen | ||
| lysosomal lumen | ||
| intracellular membrane-bounded organelle |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| alpha-1,4-glucosidase activity | ||
| alpha-glucosidase activity | ||
| maltose alpha-glucosidase activity |
|
|
| carbohydrate binding |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- alpha glucosidase
- Functional Category
-
- D: Cell cycle control, cell division, chromosome partitioning
- G: Carbohydrate transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| alpha-glucosidase activity |
| catalytic activity |
| hydrolase activity, acting on glycosyl bonds |
| hydrolase activity |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2752 | glycogen storage disease II |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003324 | Generalized muscle weakness |
| HP:0003546 | Exercise intolerance |
| HP:0003551 | Difficulty climbing stairs |
| HP:0003690 | Limb muscle weakness |
| HP:0003701 | Proximal muscle weakness |
| HP:0003725 | Firm muscles |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0004944 | Dilatation of the cerebral artery |
| HP:0005165 | Shortened PR interval |
| HP:0006597 | Diaphragmatic paralysis |
| Disease ID | Disease Name |
|---|---|
| ORPHA:308552 |
|
| OMIM:232300 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 14387 | MGI:95609 | MOUSE04476 | ||
| 173848 | WB:WBGene00019895 | |||
| 280798 | BOVIN13836 | |||
| 367562 | RGD:735227 | RATNO03032 | ||
| 454940 | 9598_0:00460b | PANTR15614 | ||
| 483352 | CANLF18375 | |||
| 712054 | MACMU16074 | |||
| 100002366 | ZFIN:ZDB-GENE-070212-2 | |||
| 100030818 | MONDO13604 | |||
| 100056675 | HORSE03618 |
