B4GAT1 Gene Summary [Human]
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | B4GAT1 |
| Official Name | beta-1,4-glucuronyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:15685] |
| Ensembl ID | ENSG00000174684 |
| Bio databases IDs | |
| Aliases | beta-1,4-glucuronyltransferase 1, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase |
| Synonyms | 1500032M01Rik, B3GN-T1, B3GNT6, beta-1,4-glucuronyltransferase 1, BETA3GNT1, BETA3GNTI, BGNT6, iGAT, iGNT, LOC108348085, MDDGA13, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase, N-acetyllactosaminide β-1,3-N-acetylglucosaminyltransferase, UDP-GlCNAC:betaGAL beta-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 6, UDP-GlCNAC:betaGAL β-1,3-N-ACETYLGLUCOSAMINYLTRANSFERASE 6, β-1,4-glucuronyltransferase 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 B4GAT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
- Glycosyl-transferase for dystroglycan
- enzyme
- protein binding
- glucuronosyltransferase
Pathways
Biological processes and signaling networks where the B4GAT1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- metastasis
- Alzheimer disease
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1
- delayed hypersensitive reaction
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A13
- Huntington disease
role in cell
- binding in
- activation in
- migration
- cell tethering or rolling
- invasion by
- guidance
- O-glycosylation in
- formation in
- formation
- glycosylation in
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B4GAT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- axon guidance
- keratan sulfate biosynthetic process
- poly-N-acetyllactosamine biosynthetic process
- protein O-linked mannosylation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- Golgi apparatus
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- glucuronosyltransferase activity
- N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity