Homo sapiens Protein: SIAE
Summary
InnateDB Protein IDBP-75229.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SIAE
Protein Name sialic acid acetylesterase
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000263593
InnateDB Gene IDBG-75227 (SIAE)
Protein Structure
UniProt Annotation
Function Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.
Subcellular Localization Lysosome {ECO:0000305}. Secreted.
Disease Associations Autoimmune disease 6 (AIS6) [MIM:613551]: Individuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease. {ECO:0000269PubMed:20555325}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity Widely expressed with high expression in the testis, prostate, and colon. {ECO:0000269PubMed:15292578}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001681 sialate O-acetylesterase activity
Biological Process
GO:0002682 regulation of immune system process
GO:0005975 carbohydrate metabolic process
Cellular Component
GO:0005615 extracellular space
GO:0005764 lysosome
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR005181 Domain of unknown function DUF303, acetylesterase putative
PFAM PF03629
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9HAT2
PhosphoSite PhosphoSite-Q9HAT2
TrEMBL
UniProt Splice Variant
Entrez Gene 54414
UniGene Hs.674805
RefSeq NP_733746
HUGO HGNC:18187
OMIM 610079
CCDS CCDS8449
HPRD 16764
IMGT
EMBL AF300796 AF303378 AK056093 AL137496 BC068450 CH471065
GenPept AAG14897 AAG15386 AAH68450 BAG51622 CAB70771 EAW67591