Homo sapiens Gene: B3GALT6
Summary
InnateDB Gene IDBG-84714.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B3GALT6
Gene Name UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000176022
Encoded Proteins
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Currently no Entrez Summary Available. You might want to check the Summary Sections of the Orthologs.
Gene Information
Type Protein coding
Genomic Location Chromosome 1:1232265-1235041
Strand Forward strand
Band p36.33
Transcripts
ENST00000379198 ENSP00000368496
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008378 galactosyltransferase activity
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
GO:0035250 UDP-galactosyltransferase activity
GO:0047220 galactosylxylosylprotein 3-beta-galactosyltransferase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006486 protein glycosylation
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0030206 chondroitin sulfate biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005797 Golgi medial cisterna
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032580 Golgi cisterna membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
A tetrasaccharide linker sequence is required for GAG synthesis pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q96L58
TrEMBL
UniProt Splice Variant
Entrez Gene 126792
UniGene Hs.284284
RefSeq NM_080605
HUGO HGNC:17978
OMIM 615291
CCDS CCDS13
HPRD 12509
IMGT
EMBL AL162741 AY050570
GenPept AAL11442 CAI23255
RNA Seq Atlas 126792