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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Protein O-glucosyltransferase 1
Summary
- UniProt ID
- Q8NBL1
- Gene Symbol
-
- POGLUT1
- C3orf9
- CLP46
- KTELC1
- MDSRP
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Endoplasmic reticulum
- Gastrulation
- Glycoprotein
- Glycosyltransferase
- Limb-girdle muscular dystrophy
- Reference proteome
- Signal
- Gene Ontology (GO)
| GO Term |
|---|
| endomembrane system |
| endoplasmic reticulum |
| endoplasmic reticulum lumen |
Sequence
MEWWASSPLRLWLLLFLLPSAQGRQKESGSKWKVFIDQINRSLENYEPCSSQNCSCYHGVIEEDLTPFRGGISRKMMAEVVRRKLGTHYQITKNRLYRENDCMFPSRCSGVEHFILEVIGRLPDMEMVINVRDYPQVPKWMEPAIPVFSFSKTSEYHDIMYPAWTFWEGGPAVWPIYPTGLGRWDLFREDLVRSAAQWPWKKKNSTAYFRGSRTSPERDPLILLSRKNPKLVDAEYTKNQAWKSMKDTLGKPAAKDVHLVDHCKYKYLFNFRGVAASFRFKHLFLCGSLVFHVGDEWLEFFYPQLKPWVHYIPVKTDLSNVQELLQFVKANDDVAQEIAERGSQFIRNHLQMDDITCYWENLLSEYSKFLSYNVTRRKGYDQIIPKMLKTEL
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 373 |
|
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Pre-NOTCH Processing in the Endoplasmic Reticulum | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:11719 | oculopharyngeal muscular dystrophy | |
| DOID:11720 | distal myopathy | |
| DOID:11723 | Duchenne muscular dystrophy | |
| DOID:11724 | limb-girdle muscular dystrophy | |
| DOID:11727 | facioscapulohumeral muscular dystrophy | |
| DOID:12236 | primary biliary cholangitis | |
| DOID:1240 | leukemia | |
| DOID:1324 | lung cancer |
