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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 |
|---|
| extracellular exosome |
| Golgi membrane |
| Golgi apparatus |
| membrane |
| cis-Golgi network |
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:0110113 | atrial heart septal defect 8 | |
| DOID:0110114 | atrial heart septal defect 9 | |
| DOID:0110213 | isolated cleft palate | |
| DOID:0111154 | postural orthostatic tachycardia syndrome | |
| DOID:0111266 | geroderma osteodysplasticum | |
| DOID:10293 | monocular esotropia | |
| DOID:10375 | strabismic amblyopia | |
| DOID:10376 | amblyopia | |
| DOID:1068 | juvenile glaucoma | |
| DOID:10908 | hydrocephalus |
