C1galt1c1 Gene Summary [Mouse]
Predicted to enable glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Acts upstream of or within platelet activation; platelet morphogenesis; and protein O-linked glycosylation. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in Tn polyagglutination syndrome and hemolytic-uremic syndrome. Orthologous to human C1GALT1C1 (C1GALT1 specific chaperone 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | C1galt1c1 |
| Official Name | C1GALT1-specific chaperone 1 [Source:MGI Symbol;Acc:MGI:1913493] |
| Ensembl ID | ENSMUSG00000048970 |
| Bio databases IDs | |
| Aliases | C1GALT1-specific chaperone 1 |
| Synonyms | 1500002I11RIK, AHUS8, C1GALT1-specific chaperone 1, C1GALT2, C38H2-L1, C81205, COSMC, HSPC067, MST143, RGD1311230, TNPS |
| 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 C1galt1c1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytoplasmic domain
- lumenal domain
- transmembrane domain
- 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
- enteritis
- atypical hemolytic uremic syndrome with rhizomelic short stature type 8
- Tn polyagglutination syndrome
- dextran sodium sulfate-induced colitis
- bleeding
- atypical hemolytic uremic syndrome
- growth failure
- macrothrombocytopenia
role in cell
- phosphorylation in
- expression in
- apoptosis
- quantity
- growth
- cell death
- degradation in
- cell viability
- binding
- proteolysis 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 membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse C1galt1c1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein O-linked glycosylation
- O-glycan processing, core 1
- platelet activation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity