Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Beta-1,3-glucosyltransferase
Summary
- UniProt ID
- Q6Y288
- Gene Symbol
-
- B3GLCT
- B3GALTL
- B3GTL
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Congenital disorder of glycosylation
- Dwarfism
- Endoplasmic reticulum
- Fucose metabolism
- Glycoprotein
- Glycosyltransferase
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| fucose metabolic process |
| protein O-linked fucosylation |
| GO Term |
|---|
| endoplasmic reticulum membrane |
| GO Term |
|---|
| glycosyltransferase activity |
| acetylglucosaminyltransferase activity |
Sequence
MRPPACWWLLAPPALLALLTCSLAFGLASEDTKKEVKQSQDLEKSGISRKNDIDLKGIVFVIQSQSNSFHAKRAEQLKKSILKQAADLTQELPSVLLLHQLAKQEGAWTILPLLPHFSVTYSRNSSWIFFCEEETRIQIPKLLETLRRYDPSKEWFLGKALHDEEATIIHHYAFSENPTVFKYPDFAAGWALSIPLVNKLTKRLKSESLKSDFTIDLKHEIALYIWDKGGGPPLTPVPEFCTNDVDFYCATTFHSFLPLCRKPVKKKDIFVAVKTCKKFHGDRIPIVKQTWESQASLIEYYSDYTENSIPTVDLGIPNTDRGHCGKTFAILERFLNRSQDKTAWLVIVDDDTLISISRLQHLLSCYDSGEPVFLGERYGYGLGTGGYSYITGGGGMVFSREAVRRLLASKCRCYSNDAPDDMVLGMCFSGLGIPVTHSPLFHQARPVDYPKDYLSHQVPISFHKHWNIDPVKVYFTWLAPSDEDKARQETQKGFREEL
Glycosylation Sites
G70888PK
G62765YT
G31852PQ
G41247ZX
G02815KT
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective B3GALTL causes PpS | Homo sapiens |
| O-glycosylation of TSR domain-containing proteins | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050328 | congenital hypothyroidism | |
| DOID:0050778 | Meckel syndrome | |
| DOID:0060041 | autism spectrum disorder | |
| DOID:0060055 | popliteal pterygium syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0060287 | cornea plana | |
| DOID:0060320 | inguinal hernia | |
| DOID:0060321 | umbilical hernia |
