B3GAT1 Gene Summary [Human]
The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | B3GAT1 |
| Official Name | beta-1,3-glucuronyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:921] |
| Ensembl ID | ENSG00000109956 |
| Bio databases IDs | |
| Aliases | beta-1,3-glucuronyltransferase 1, galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1, glucuronosyltransferase P |
| Synonyms | 0710007K08Rik, beta-1,3-glucuronyltransferase 1, CD57, Glcat-i, GLCATP, GLCUATP, glucuronosyltransferase P, HNK1, LEU7, NK-1, β-1,3-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 B3GAT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- stem region
- Glycosyltransferase family 43
- galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase
- catalytic domain
- transmembrane domain
- enzyme
- protein binding
- cytosolic tail domain
- glycosyltransferase family A
- Golgi lumenal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- head and neck neoplasia
- chemotherapy sickness
- vomiting
- nausea
- delayed chemotherapy induced nausea and vomiting
- acute chemotherapy-induced nausea and vomiting with delayed onset
- nausea and vomiting
- insomnia
- major depression
role in cell
- growth
- activation in
- migration
- morphology
- long-term potentiation
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 lumen
- intracellular membrane-bounded organelle
- cell surface
- cellular membrane
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- Golgi membrane
- motor endplates
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B3GAT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- chondroitin sulfate proteoglycan biosynthetic process
- protein glycosylation
- glycosaminoglycan biosynthetic process
- visual learning
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- membrane
- Golgi membrane
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity