beta-1,3-galactosyltransferase 6

Summary
Gene Symbol
  • B3GALT6
Aliases
  • beta-1,3-galactosyltransferase-6
  • beta3GalT6
Organism
Homo sapiens (human)
NCBI Gene
126792
GGDB ID
HGNC
17978
mRNA
map
  • 1p36.33
Protein
OMIM
KEGG Gene ID
hsa:126792
PubChem
126792
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Dwarfism
  • Ehlers-Danlos syndrome
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Manganese
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q96L58
  • GAG GalTII
  • Galactosyltransferase II
  • Galactosylxylosylprotein 3-beta-galactosyltransferase
  • UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Ubiquitin-conjugating enzyme, E2
Functional Category
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying 1 entry
Gene Ontology
transferase activity
GlycoGene Database (GGDB)
GGDB ID
gg074
Gene Symbol
  • B3GALT6
Reactions
Displaying 1 entry
Donor Acceptor Reducing terminal(Acceptor) Product Reducing terminal(Product) Reference
UDP-Gal
G78098IA
Benzyl
G87877ES
Benzyl
Displaying all 5 entries
Donor Acceptor Reducing terminal(Acceptor) Product Reducing terminal(Product) Reference
UDP-Gal
G65889KE
naphothalenemethanol
G95894VW
naphothalenemethanol
UDP-Gal
G00031MO
naphothalenemethanol
G70693FX
naphothalenemethanol
UDP-Gal
G95894VW
naphothalenemethanol
G59103JC
naphothalenemethanol
UDP-Gal
G78098IA
Benzyl
G87877ES
Benzyl
UDP-Gal
G00055MO
naphothalenemethanol
G35116BF
naphothalenemethanol
Displaying entries 1 - 5 of 6 in total
Donor Acceptor Reducing terminal(Acceptor) Reference
UDP-Gal
G33476GF
naphothalenemethanol
UDP-Gal
G16579HJ
Benzyl, naphthol
UDP-Gal
G65889KE
para-nitrophenol
UDP-Gal
G00056MO
naphothalenemethanol
UDP-Gal
G57321FI
naphothalenemethanol, para-nitrophenol
Orthologous Gene
KEGG BRITE Database
Orthology
K00734
Name
galactosylxylosylprotein 3-beta-galactosyltransferase [EC:2.4.1.134]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05927
Disease
Disease Ontology
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
The Human Phenotype Ontology
Displaying entries 21 - 30 of 148 in total
HPO ID HPO Term
HP:0000647 Sclerocornea
HP:0000670 Carious teeth
HP:0000691 Microdontia
HP:0000703 Dentinogenesis imperfecta
HP:0000750 Delayed speech and language development
HP:0000767 Pectus excavatum
HP:0000768 Pectus carinatum
HP:0000878 11 pairs of ribs
HP:0000887 Cupped ribs
HP:0000904 Flaring of rib cage
Displaying all 4 entries
Disease ID Disease Name
OMIM:609465
  • Al-Gazali syndrome
ORPHA:536467
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2
OMIM:271640
  • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
OMIM:615349
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2
Ortholog
Displaying entries 61 - 63 of 63 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
117026943 RHIFE02900
118309880 SCOMX27864
118891306 BALMU21951

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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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