SIAE - sialic acid acetylesterase (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-02-02
Description
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]
Enables sialate O-acetylesterase activity. Involved in carbohydrate metabolic process and regulation of immune system process. Located in extracellular exosome. Implicated in autoimmune disease.
- AIS6
- CSE-C
- CSEC
- LSE
- YSG2
- sialate O-acetylesterase
- H-Lse
- cytosolic sialic acid 9-O-acetylesterase homolog
- sialic acid-specific acetylesterase II
Catalyzes the removal of O-acetyl ester groups from position 9 of the free diacetylated sialate N-acetyl-9-O-acetylneuraminate (Neu5,9Ac2) in the cytosol and of the diacetylated sialate residues of sialylglycoconjugates in the lysosomes (Probable). Together with the sialate-O-acetyltransferase they regulate the balance of acetylated sialoglycoconjugates, key players in various processes such as cell-cell interactions, host-pathogen recognition, and tumor antigenicity (PMID: 21803834).
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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