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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Phosphoglucomutase-1
Summary
- UniProt ID
- P36871
- Gene Symbol
-
- PGM1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Congenital disorder of glycosylation
- Cytoplasm
- Disease variant
- Glucose metabolism
- Glycogen storage disease
- Isomerase
- Magnesium
- Metal-binding
- Phosphoprotein
- Reference proteome
- Gene Ontology (GO)
| GO Term |
|---|
| carbohydrate metabolic process |
| glucose metabolic process |
| gluconeogenesis |
| glycolytic process |
| GO Term |
|---|
| extracellular region |
| extracellular exosome |
| tertiary granule lumen |
| cytoplasm |
| cytosol |
| ficolin-1-rich granule lumen |
| GO Term |
|---|
| phosphoglucomutase activity |
| magnesium ion binding |
Sequence
MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIARIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 505 |
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective PGM1 causes CDG1t | Homo sapiens |
| Galactose catabolism | Homo sapiens |
| Glycogen breakdown (glycogenolysis) | Homo sapiens |
| Glycogen synthesis | Homo sapiens |
| Neutrophil degranulation | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2237 | hepatitis | |
| DOID:0014667 | disease of metabolism | |
| DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
| DOID:0050570 | congenital disorder of glycosylation type I | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
| DOID:0060728 | NGLY1-deficiency | |
| DOID:0060843 | hereditary neuropathy with liability to pressure palsies | |
| DOID:0070161 | hereditary sensory and autonomic neuropathy type 2 | |
| DOID:0070218 | familial hyperinsulinemic hypoglycemia 2 |
