SIAE Gene Summary [Human]
This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]
Details
| Type | Protein Coding |
| Official Symbol | SIAE |
| Official Name | sialic acid acetylesterase [Source:HGNC Symbol;Acc:HGNC:18187] |
| Ensembl ID | ENSG00000110013 |
| Bio databases IDs | |
| Aliases | sialic acid acetylesterase, sialic acid-specific acetylesterase II |
| Synonyms | AIS6, CSE-C, LSE, RGD1310431, sialic acid acetylesterase, YSG2 |
| 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 SIAE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Carbohydrate esterase, sialic acid-specific acetylesterase
- sialate O-acetylesterase
- 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
- susceptibility to autoimmune disease type 6
- bipolar disorder
- schizophrenia
- Parkinson disease
regulated by
- Mrc 5 cells
- epigallocatechin-gallate
- LYSET
- CLN3
- tetrandrine
- fangchinoline
- cepharanthine
role in cell
- proliferation
- expression 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
- lysosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIAE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- regulation of immune system process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- lysosome
Molecular Function
What the gene product does at the molecular level
- sialate O-acetylesterase activity