Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
| DOID:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | |
| DOID:0110298 | autosomal recessive limb-girdle muscular dystrophy type 2N | |
| DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I | |
| DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
| DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
| DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
| DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
| DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 | |
| DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001638 | Cardiomyopathy |
| HP:0001714 | Ventricular hypertrophy |
| HP:0001943 | Hypoglycemia |
| HP:0002155 | Hypertriglyceridemia |
| HP:0002240 | Hepatomegaly |
| HP:0002721 | Immunodeficiency |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003077 | Hyperlipidemia |
| HP:0003198 | Myopathy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| 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 |
|---|---|---|---|
| 175091 | WB:WBGene00011050 | ||
| 37435 | FB:FBgn0034618 | ||
| 103174627 | CALMI05699 | ||
| 102354072 | LATCH10766 | ||
| 567798 | ZFIN:ZDB-GENE-071004-6 | DANRE29999 | |
| 553352 | ZFIN:ZDB-GENE-050309-54 | ||
| 113588063 | ELEEL01332 | ||
| 106568905 | SALSA33266 | ||
| 106578509 | SALSA59784 | ||
| 106599117 | SALSA114953 |
