B4GALT6 Gene Summary [Human]
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. 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. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]
Details
| Type | Retained Intron |
| Official Symbol | B4GALT6 |
| Official Name | beta-1,4-galactosyltransferase 6 [Source:HGNC Symbol;Acc:HGNC:929] |
| Ensembl ID | ENSG00000118276 |
| Bio databases IDs | |
| Aliases | beta-1,4-galactosyltransferase 6, UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase |
| Synonyms | beta-1,4-galactosyltransferase 6, beta4Gal-T6, Galt-2, LacCer Synthase, UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6, UDP-Gal:betaGlcNAc β 1,4-galactosyltransferase, polypeptide 6, β-1,4-galactosyltransferase 6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human B4GALT6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- UDP-galactose-glucosylceramide beta-1,4-galactosyltransferase
- galactosyltransferase
- N-terminal domain of galactosyltransferase
- N-terminal region of glycosyl transferase group 7
- enzyme
- protein binding
- glycosyltransferase family A
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Parkinson disease
- multiple sclerosis
role in cell
- recruitment
- expression in
- proliferation
- maturation
- function
- depletion in
- axonogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Golgi Apparatus
- Golgi membrane
- trans Golgi network
- trans Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B4GALT6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycosylation
- central nervous system myelination
- ganglioside biosynthetic process via lactosylceramide
- carbohydrate metabolic process
- central nervous system neuron axonogenesis
- protein glycosylation
- neuron maturation
- glycosphingolipid biosynthetic process
- lactosylceramide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- Golgi cisterna membrane
- Golgi apparatus
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity
- galactosyltransferase activity