B4galnt1 Gene Summary [Mouse]
Enables (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity. Involved in ganglioside biosynthetic process. Acts upstream of or within several processes, including determination of adult lifespan; lipid storage; and motor behavior. Predicted to be located in Golgi membrane. Is expressed in several structures, including alimentary system; eye; genitourinary system; hemolymphoid system; and nervous system. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 26. Orthologous to human B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | B4galnt1 |
| Official Name | beta-1,4-N-acetyl-galactosaminyl transferase 1 [Source:MGI Symbol;Acc:MGI:1342057] |
| Ensembl ID | ENSMUSG00000006731 |
| Bio databases IDs | |
| Aliases | beta-1,4-N-acetyl-galactosaminyl transferase 1 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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