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MIRAGE
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
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Gene Ontology (GO)
Displaying all 5 entries
GO Term
membrane
Golgi membrane
Golgi apparatus
Golgi medial cisterna
Golgi cisterna membrane
Subcellular Location(GO Annotation)

Subcellular in which this glycoprotein is expressed are highlighted in blue.

Annotation information from UniProt.
Sequence
MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP
  • N : N-glycosylation Site
  • ___ : Potential Sequon
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
Disease
Displaying all 2 entries
DO ID Disease Name Source
DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2
DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1
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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: August 4, 2025