SIAE
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
sialic acid acetylesterase | MIM:610079 | Ensembl:ENSG00000110013 | HGNC:HGNC:18187 | PA142670922 | 11q24.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in SIAE
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
BP | IMP | GO:0002682 | regulation of immune system process |
BP | IDA | GO:0005975 | carbohydrate metabolic process |
CC | HDA | GO:0005615 | extracellular space |
CC | IEA | GO:0005764 | lysosome |
CC | HDA | GO:0070062 | extracellular exosome |
MF | IDA | GO:0001681 | sialate O-acetylesterase activity |
Gene expression in normal tissue: SIAE
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SIAE
Database | Pathway ID | Pathway Des. |
---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SIAE