SIAE
entrez
54414
canonical
uniprot
Q9HAT2
canonical
ensembl
ENSG00000110013
resolver
ensp
ENSP00000263593
resolver
ensp
ENSP00000478211
resolver
ensp
ENSP00000781674
resolver
genesymbol
SIAE
resolver
genesymbol_syn
YSG2
resolver
hgnc
HGNC:18187
resolver
uniprot
B3KPB0
resolver
uniprot
Q8IUT9
resolver
uniprot
Q9HAU7
resolver
uniprot
Q9NT71
resolver
uniprot_entry
SIAE_HUMAN
resolver
uniprot_sec
B3KPB0
resolver
uniprot_sec
Q8IUT9
resolver
uniprot_sec
Q9HAU7
resolver
uniprot_sec
Q9NT71
resolver
amino_acid_sequence
MVAPGLVLGLVLPLILWADRSAGIGFRFASYINNDMVLQKEPAGAVIWGFGTPGATVTVTLRQGQETIMKKVTSVKAHSDTWMVVLDPMKPGGPFEVMAQQTLEKINFTLRVHDVLFGDVWLCSGQSNMQMTVLQIFNATRELSNTAAYQSVRILSVSPIQAEQELEDLVAVDLQWSKPTSENLGHGYFKYMSAVCWLFGRHLYDTLQYPIGLIASSWGGTPIEAWSSGRSLKACGVPKQGSIPYDSVTGPSKHSVLWNAMIHPLCNMTLKGVVWYQGESNINYNTDLYNCTFPALIEDWRETFHRGSQGQTERFFPFGLVQLSSDLSKKSSDDGFPQIRWHQTADFGYVPNPKMPNTFMAVAMDLCDRDSPFGSIHPRDKQTVAYRLHLGARALAYGEKNLTFEGPLPEKIELLAHKGLLNLTYYQQIQVQKKDNKIFEISCCSDHRCKWLPASMNTVSTQSLTLAIDSCHGTVVALRYAWTTWPCEYKQCPLYHPSSALPAPPFIAFITDQGPGHQSNVAK
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:20555325}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.1.53
uniprot
proteins
function
FUNCTION: 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 (PubMed:21803834). {ECO:0000269|PubMed:21803834, ECO:0000305|PubMed:20555325, ECO:0000305|PubMed:21803834}.
uniprot
proteins
mass_dalton
58315
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15292578
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20555325
uniprot
proteins
pubmed
21803834
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
523
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Lysosome {ECO:0000269|PubMed:15292578, ECO:0000269|PubMed:21803834}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:21803834}.
uniprot
proteins