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Glycan Structure Repository
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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
glycogenin 1
Summary
- Gene Symbol
-
- GYG1
- Aliases
-
- glycogenin glucosyltransferase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Disease variant
- Glycogen biosynthesis
- Glycogen storage disease
- Glycoprotein
- Manganese
- Metal-binding
- Phosphoprotein
- Reference proteome
- Transferase
- Proteins
| UniProt | Protein Name |
|---|---|
| P46976 |
|
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycosyltransferase activity | ||
| glycogenin glucosyltransferase activity | ||
| protein homodimerization activity | ||
| manganese ion binding | ||
| UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0014667 | disease of metabolism | |
| DOID:0050579 | glycogen storage disease XV | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0060674 | catecholaminergic polymorphic ventricular tachycardia | |
| DOID:0060675 | catecholaminergic polymorphic ventricular tachycardia 1 | |
| DOID:0060676 | catecholaminergic polymorphic ventricular tachycardia 2 | |
| DOID:0060677 | catecholaminergic polymorphic ventricular tachycardia 3 | |
| DOID:0060678 | catecholaminergic polymorphic ventricular tachycardia 4 | |
| DOID:0060679 | catecholaminergic polymorphic ventricular tachycardia 5 | |
| DOID:0111040 | glycogen storage disease IXd |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000819 | Diabetes mellitus |
| HP:0000821 | Hypothyroidism |
| HP:0001324 | Muscle weakness |
| HP:0001638 | Cardiomyopathy |
| HP:0001663 | Ventricular fibrillation |
| HP:0001714 | Ventricular hypertrophy |
| HP:0001962 | Palpitations |
| HP:0002321 | Vertigo |
| HP:0002355 | Difficulty walking |
| Disease ID | Disease Name |
|---|---|
| ORPHA:263297 |
|
| OMIM:613507 |
|
| OMIM:616199 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 105587508 | CERAT33227 | ||
| 101926679 | MACFA26252 | ||
| 712495 | MACMU28967 | ||
| 105470044 | MACNE09132 | ||
| 101130219 | GORGO28711 | ||
| 460765 | PANTR32405 | ||
| 100434629 | PONAB26693 | ||
| 611614 | CANLF09171 | ||
| 123802372 | URSAM11610 | ||
| 101694122 | MUSPF12122 |
