Beta-1,3-galactosyltransferase 6

Summary
UniProt ID
Q96L58
Gene Symbol
B3GALT6
Gene ID
126792
Organism
Homo sapiens (human)
GlyConnect
GlyGen
Q96L58
PubChem
Q96L58
The Human Metabolome Database
HMDBP03281
Re-Glyco
Q96L58
Annotation
Keyword
Disease variant Dwarfism Ehlers-Danlos syndrome Glycoprotein Glycosyltransferase Golgi apparatus Manganese Proteomics identification Reference proteome Signal-anchor Transmembrane helix
Gene Ontology (GO)
GO Hierarchy
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
Defective B3GALT6 causes EDSP2 and SEMDJL1 Homo sapiens
Glycosaminoglycan-protein linkage region biosynthesis Homo sapiens
Disease
Displaying all 2 entries
DO ID Disease Name Source
DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1
DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: April 6, 2026