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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 Term | Evidence Code | PMID |
|---|---|---|
| isoamylase complex | ||
| secretory granule lumen | ||
| sarcoplasmic reticulum | ||
| ficolin-1-rich granule lumen |
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:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
| DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
| DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U |
- 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 |
|---|---|---|---|
| 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 |
