| Homo sapiens Gene: B4GALT6 | |||||||||||||||||
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| 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
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| 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] |
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| Gene Information | |||||||||||||||||
| Type | Protein coding | ||||||||||||||||
| Genomic Location | Chromosome 18:31622247-31685836 | ||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||
| Band | q12.1 | ||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| 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
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| KEGG |
Sphingolipid metabolism pathway
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| 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 | ||||||||||||||||