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MIRAGE
amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
Summary
- Gene Symbol
-
- AGL
- Aliases
-
- GDE
- glycogen debranching enzyme
- glycogen storage disease type III
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cytoplasm
- Direct protein sequencing
- Disease variant
- Glycogen biosynthesis
- Glycogen storage disease
- Glycosidase
- Glycosyltransferase
- Multifunctional enzyme
- Phosphoprotein
- Reference proteome
- Ubl conjugation
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A0S2A4E4 |
|
| P35573 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycogen biosynthetic process | ||
| glycogen catabolic process | ||
| glycogen catabolic process | ||
| response to nutrient | ||
| response to glucocorticoid |
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycogen debranching enzyme activity | ||
| 4-alpha-glucanotransferase activity | ||
| 4-alpha-glucanotransferase activity | ||
| amylo-alpha-1,6-glucosidase activity | ||
| amylo-alpha-1,6-glucosidase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- glycogen debranching enzyme
- Functional Category
-
- G: Carbohydrate transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- Q: Secondary metabolites biosynthesis, transport and catabolism
| Gene Ontology |
|---|
| 4-alpha-glucanotransferase activity |
| amylo-alpha-1,6-glucosidase activity |
| glycogen biosynthetic process |
| glycogen catabolic process |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2748 | glycogen storage disease III |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000233 | Thin vermilion border |
| HP:0000272 | Malar flattening |
| HP:0000293 | Full cheeks |
| HP:0000455 | Broad nasal tip |
| HP:0000490 | Deeply set eye |
| HP:0001256 | Intellectual disability, mild |
| HP:0001324 | Muscle weakness |
| HP:0001395 | Hepatic fibrosis |
| Disease ID | Disease Name |
|---|---|
| OMIM:232400 |
|
| ORPHA:366 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 178 | Xenbase:XB-GENE-1001429 | ||
| 77559 | MOUSE36551 | ||
| 362029 | RATNO25161 | ||
| 469392 | PANTR21651 | ||
| 479931 | CANLF16878 | ||
| 517397 | BOVIN26443 | ||
| 567798 | DANRE29999 | ||
| 710910 | MACMU24389 | ||
| 856314 | Xenbase:XB-GENE-1001429 | ||
| 100009066 | RABIT03663 |
