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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
Summary
- UniProt ID
- O94766
- Gene Symbol
-
- B3GAT3
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- O94766
- PubChem
- O94766
- The Human Metabolome Database
- HMDBP00933
- The O-GlcNAc Database
- O94766
- RaftProt
- O94766
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Disease variant
- Disulfide bond
- Glycoprotein
- Golgi apparatus
- Manganese
- Metal-binding
- Reference proteome
- Signal-anchor
- Transferase
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| membrane |
| cis-Golgi network |
| extracellular exosome |
Sequence
MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFHTAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAANCTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV
Glycosylation Sites
G57321FI
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| A tetrasaccharide linker sequence is required for GAG synthesis | Homo sapiens |
| Defective B3GAT3 causes JDSSDHD | 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:1882 | atrial heart septal defect | |
| DOID:2256 | osteochondrodysplasia | |
| DOID:2340 | craniosynostosis | |
| DOID:2732 | Rothmund-Thomson syndrome | |
| DOID:2797 | idiopathic interstitial pneumonia | |
| DOID:3144 | cutis laxa | |
| DOID:3571 | liver cancer | |
| DOID:3770 | pulmonary fibrosis | |
| DOID:4480 | achondroplasia | |
| DOID:674 | cleft palate |
