B4GALNT1 Gene Summary [Human]
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Details
| Type | Protein Coding |
| Official Symbol | B4GALNT1 |
| Official Name | beta-1,4-N-acetyl-galactosaminyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:4117] |
| Ensembl ID | ENSG00000135454 |
| Bio databases IDs | |
| Aliases | beta-1,4-N-acetyl-galactosaminyltransferase 1, GD2 synthase, GM2 synthase |
| Synonyms | 4933429D13RIK, beta-1,4-N-acetyl-galactosaminyl transferase 1, galactosylglucosylceramide β 1, 4 n acetylgalactosaminyltransferase, GALGT, Galgt1, GALNACT, Ggm-2, GM2/GD2 Synthase, GM2 SYNTHASE, SPG26, β-1,4-N-acetyl-galactosaminyl transferase 1 |
| 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 B4GALNT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl transferase family 2
- acetylgalactosaminyltransferase
- enzyme
- glycosyltransferase family A
- (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- Huntington disease
- spastic paraplegia
- neurodegeneration
- hereditary disorder
- autosomal recessive spastic paraplegia type 26
- age-related macular degeneration
- paraparesis
- seizures
- progressive ataxia
role in cell
- apoptosis
- growth
- differentiation
- quantity
- damage
- tumorigenicity
- degeneration
- volume
- production
- formation by
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-enriched fraction
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B4GALNT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- lipid storage
- limb development
- vacuole organization
- spermatogenesis
- determination of adult lifespan
- lipid glycosylation
- glycosphingolipid metabolic process
- nerve development
- ganglioside biosynthetic process
Cellular Component
Where in the cell the gene product is active
- membrane
- Golgi membrane
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity
- acetylgalactosaminyltransferase activity