C1GALT1 Gene Summary [Human]
The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
Details
| Type | Protein Coding |
| Official Symbol | C1GALT1 |
| Official Name | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:24337] |
| Ensembl ID | ENSG00000106392 |
| Bio databases IDs | |
| Aliases | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1, core 1 beta3-Gal-T |
| Synonyms | 2210410E06RIK, AV284120, C1GALT, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-β-galactosyltransferase 1, core 1 synthase, glycoprotein-N-acetylgalactosamine 3-β-galactosyltransferase, 1, T-syn, T-synthase |
| 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 C1GALT1 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
- CBRT domain
- catalytic domain
- galactosyltransferase
- enzyme
- protein binding
- glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- progressive vision loss
- COVID-19
- gastric epithelial cancer
- breast cancer
- kidney disease
- organismal death
- lung adenocarcinoma
- lung adenocarcinoma formation
- metastasis
role in cell
- proliferation
- expression in
- apoptosis
- phosphorylation in
- activation in
- cell viability
- migration
- binding
- quantity
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human C1GALT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein O-linked glycosylation
- angiogenesis
- kidney development
- intestinal epithelial cell development
- O-glycan processing, core 1
Cellular Component
Where in the cell the gene product is active
- membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- nucleotide binding
- protein binding
- metal ion binding
- glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity