ST8SIA1 Gene Summary [Human]
Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
Details
| Type | Processed Transcript |
| Official Symbol | ST8SIA1 |
| Official Name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:10869] |
| Ensembl ID | ENSG00000111728 |
| Bio databases IDs | |
| Aliases | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1, ST8Sia I |
| Synonyms | 9330109E03RIK, alpha-2,8 ST, GD3S, GD3 Synthase, Sial-T2, Sia-T, SIAT8, SIAT8-A, ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1, ST8SiaI, ST8 α-N-acetyl-neuraminide α-2,8-sialyltransferase 1, α-2,8 sialyltransferase, α-2,8 ST |
| 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 ST8SIA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyltransferase family 29 (sialyltransferase)
- glycosyltransferase family 29
- alpha-N-acetylneuraminate alpha-2,8-sialyltransferase
- sialyltransferase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- dementia
- major depression
- seizures
- nonalcoholic fatty liver disease
- hepatic steatosis
- Cornelia de Lange syndrome
- Huntington disease
- refractive error
- neurodegeneration
role in cell
- number
- expression in
- proliferation
- growth
- apoptosis
- synthesis in
- differentiation
- activation in
- formation by
- degradation 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
- detergent-soluble membrane fractions
- cellular membrane
- Plasma Membrane
- Golgi membrane
- trans face of the Golgi apparatus
- trans Golgi network
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ST8SIA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- epithelial cell proliferation
- cellular response to heat
- N-glycan processing
- protein glycosylation
- oligosaccharide metabolic process
- glycosphingolipid biosynthetic process
- positive regulation of epithelial cell proliferation
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
- protein binding
- sialyltransferase activity
- alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity