Homo sapiens Gene: B4GALT6 | |||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||
InnateDB Gene | IDBG-2120.6 | ||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||
Gene Symbol | B4GALT6 | ||||||||||||||||
Gene Name | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 | ||||||||||||||||
Synonyms | B4Gal-T6; beta4Gal-T6 | ||||||||||||||||
Species | Homo sapiens | ||||||||||||||||
Ensembl Gene | ENSG00000118276 | ||||||||||||||||
Encoded Proteins |
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
|
||||||||||||||||
Protein Structure | |||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||
Entrez Gene | |||||||||||||||||
Summary |
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008] |
||||||||||||||||
Gene Information | |||||||||||||||||
Type | Protein coding | ||||||||||||||||
Genomic Location | Chromosome 18:31622247-31685836 | ||||||||||||||||
Strand | Reverse strand | ||||||||||||||||
Band | q12.1 | ||||||||||||||||
Transcripts |
|
||||||||||||||||
Interactions | |||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
||||||||||||||||
Gene Ontology | |||||||||||||||||
Molecular Function |
|
||||||||||||||||
Biological Process |
|
||||||||||||||||
Cellular Component |
|
||||||||||||||||
Orthologs | |||||||||||||||||
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||
Pathways | |||||||||||||||||
NETPATH | |||||||||||||||||
REACTOME |
N-Glycan antennae elongation pathway
Transport to the Golgi and subsequent modification pathway
O-linked glycosylation of mucins pathway
Asparagine N-linked glycosylation pathway
Keratan sulfate biosynthesis pathway
Mucopolysaccharidoses pathway
Post-translational protein modification pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
N-glycan antennae elongation in the medial/trans-Golgi pathway
Defective SLC26A2 causes chondrodysplasias pathway
O-linked glycosylation pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Metabolism of proteins pathway
Defective CHST14 causes EDS, musculocontractural type 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
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 |
Sphingolipid metabolism pathway
|
||||||||||||||||
INOH | |||||||||||||||||
PID NCI | |||||||||||||||||
Cross-References | |||||||||||||||||
SwissProt | |||||||||||||||||
TrEMBL | J3QQY9 | ||||||||||||||||
UniProt Splice Variant | |||||||||||||||||
Entrez Gene | 9331 | ||||||||||||||||
UniGene | |||||||||||||||||
RefSeq | NM_004775 | ||||||||||||||||
HUGO | HGNC:929 | ||||||||||||||||
OMIM | 604017 | ||||||||||||||||
CCDS | CCDS11900 | ||||||||||||||||
HPRD | 06808 | ||||||||||||||||
IMGT | |||||||||||||||||
EMBL | AC017100 | ||||||||||||||||
GenPept | |||||||||||||||||
RNA Seq Atlas | 9331 | ||||||||||||||||