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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
amylo-alpha-1, 6-glucosidase, 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 catabolic process | ||
| response to glucocorticoid | ||
| response to nutrient | ||
| glycogen biosynthetic process |
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| 4-alpha-glucanotransferase activity | ||
| beta-maltose 4-alpha-glucanotransferase activity | ||
| glycogen debranching enzyme activity | ||
| protein binding | ||
| amylo-alpha-1,6-glucosidase activity |
GO Hierarchy
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
| DOID:0111040 | glycogen storage disease IXd | |
| DOID:0111041 | glycogen storage disease IXb | |
| DOID:0111042 | glycogen storage disease IXa | |
| DOID:0111043 | glycogen storage disease IXc | |
| DOID:0111135 | congenital generalized lipodystrophy type 1 | |
| DOID:0111136 | congenital generalized lipodystrophy type 2 | |
| DOID:0111137 | congenital generalized lipodystrophy type 3 | |
| DOID:0111138 | congenital generalized lipodystrophy type 4 | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels |
- 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 |
|---|---|---|---|
| 110217353 | PHACI15577 | ||
| 101049181 | SAIBB21905 | ||
| 111233892 | SERDU14571 | ||
| 101605918 | JACJA15447 | ||
| 118311696 | SCOMX29872 | ||
| 102425936 | MYOLU16082 | ||
| 117014584 | RHIFE25440 | ||
| 100217722 | TAEGU29408 | ||
| 101815607 | FICAL04154 | ||
| 103224377 | CHLSB08655 |
