ST3GAL3 Gene Summary [Human]
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ST3GAL3 |
| Official Name | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 [Source:HGNC Symbol;Acc:HGNC:10866] |
| Ensembl ID | ENSG00000126091 |
| Bio databases IDs | |
| Aliases | ST3 beta-galactoside alpha-2,3-sialyltransferase 3, ST3Gal III, N-acetyllactosaminide alpha-2,3-sialyltransferase |
| Synonyms | DEE15, EIEE15, MRT12, Siat3, SIAT6, ST3 beta-galactoside alpha-2,3-sialyltransferase 3, ST3GALII, ST3Gal III, ST3N, ST3 β-galactoside α-2,3-sialyltransferase 3 |
| 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 ST3GAL3 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
- N-acetyllactosaminide alpha-2,3-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
- Alzheimer disease
- coronary artery disease
- Ohtahara syndrome
- schizophrenia
- autosomal recessive mental retardation type 12
- attention deficit hyperactivity disorder
- hereditary disorder
- early infantile epileptic encephalopathy type 15
- nonlobar intracerebral hemorrhage
- amyotrophic lateral sclerosis
regulates
- oligosaccharide
- glycosphingolipid
- sialyl 6-sulfo Lewis X
- Alpha1-3-gt
- O-glycan
- keratan sulfate
role in cell
- apoptosis
- antigenicity
- reverse transcription
- reverse transcription in
- cytolysis
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
- Extracellular Space
- cellular membrane
- Golgi membrane
- trans Golgi network
- trans Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ST3GAL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ganglioside biosynthetic process via lactosylceramide
- viral protein processing
- protein glycosylation
- oligosaccharide biosynthetic process
- keratan sulfate biosynthetic process
- O-glycan processing
- glycosphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- Golgi cisterna membrane
- Golgi membrane
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- sialyltransferase activity
- beta-galactoside (CMP) alpha-2,3-sialyltransferase activity
- N-acetyllactosaminide alpha-2,3-sialyltransferase activity