beta-1,3-galactosyltransferase 6

Summary
Gene Symbol
  • B3GALT6
Aliases
  • beta-1,3-galactosyltransferase-6
  • beta3GalT6
Organism
Homo sapiens (human)
External Links
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
GlycoGene Database (GGDB)
GGDB ID
gg074
Gene Symbol
  • B3GALT6
Reactions
Displaying 1 entry
Donor Acceptor Product Reference
UDP-Gal
G78098IA
G87877ES
Displaying all 5 entries
Donor Acceptor Product Reference
UDP-Gal
G78098IA
G87877ES
UDP-Gal
G00055MO
G35116BF
UDP-Gal
G00031MO
G70693FX
UDP-Gal
G65889KE
G95894VW
UDP-Gal
G95894VW
G59103JC
Displaying all 5 entries
Donor Acceptor Product Reference
UDP-Gal
G16579HJ
UDP-Gal
G00056MO
UDP-Gal
G65889KE
UDP-Gal
G33476GF
UDP-Gal
G57321FI
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 entries 1 - 10 of 77 in total
DO ID Disease Name Source
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050429 Hailey-Hailey disease
DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2
DOID:0060249 scoliosis
DOID:0060762 restrictive dermopathy
DOID:0060862 mal de Meleda
DOID:0070129 autosomal recessive cutis laxa type IID
DOID:0070130 autosomal dominant cutis laxa 1
DOID:0070131 autosomal dominant cutis laxa 3
DOID:0070132 autosomal recessive cutis laxa type IIIA
The Human Phenotype Ontology
Displaying entries 1 - 10 of 148 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000126 Hydronephrosis
HP:0000175 Cleft palate
HP:0000218 High palate
HP:0000238 Hydrocephalus
HP:0000272 Malar flattening
HP:0000300 Oval face
HP:0000343 Long philtrum
HP:0000347 Micrognathia
HP:0000358 Posteriorly rotated ears
Displaying all 4 entries
Disease ID Disease Name
OMIM:615349
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2
ORPHA:536467
  • Ehlers-Danlos syndrome, spondylodysplastic type, 2
OMIM:271640
  • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
OMIM:609465
  • Al-Gazali syndrome

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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: August 19, 2024