B3GLCT Gene Summary [Human]
The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | B3GLCT |
| Official Name | beta 3-glucosyltransferase [Source:HGNC Symbol;Acc:HGNC:20207] |
| Ensembl ID | ENSG00000187676 |
| Bio databases IDs | |
| Aliases | beta 3-glucosyltransferase, beta-1,3-glucosyltransferase |
| Synonyms | B3GALTL, B3galtl-ps1, B3GTL, beta3Glc-T, beta-3-glucosyltransferase, Gal-T, Gm1057, β-3-glucosyltransferase |
| 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 B3GLCT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- galactosyltransferase
- enzyme
- glycosyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertelorism
- insomnia
- brachydactyly
- Peters plus syndrome
- major depression
- hydrocephalus
- age-related macular degeneration
- COVID-19
- bipolar I disorder
- cleft palate
regulated by
role in cell
- assembly
- organization
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
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human B3GLCT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein O-linked fucosylation
- fucose metabolic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- transferase activity, transferring glycosyl groups
- acetylglucosaminyltransferase activity