Beta-1,3-galactosyltransferase 6

Summary
UniProt ID
Q96L58
Gene Symbol
  • B3GALT6
Organism
Homo sapiens (human)
GlyConnect
GlyGen
Q96L58
PubChem
Q96L58
The Human Metabolome Database
HMDBP03281
Annotation
Keyword
  • Disease variant
  • Dwarfism
  • Ehlers-Danlos syndrome
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Manganese
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Gene Ontology (GO)
Sequence
MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP
Glycosylation Sites
Displaying all 2 entries
Position Description PubMed ID GlyTouCan ID Source
131 N-linked (GlcNAc...) asparagine
308
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying all 2 entries
Pathway Name Organism
A tetrasaccharide linker sequence is required for GAG synthesis Homo sapiens
Defective B3GALT6 causes EDSP2 and SEMDJL1 Homo sapiens

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024