SIAE (sialic acid acetylesterase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54414
Gene name Gene Name - the full gene name approved by the HGNC.
Sialic acid acetylesterase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIAE
Synonyms (NCBI Gene) Gene synonyms aliases
AIS6, CSE-C, CSEC, LSE, YSG2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AIS6
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 cyt
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs78778622 T>A,C Risk-factor Missense variant, 5 prime UTR variant, coding sequence variant
rs143070599 C>A Risk-factor Coding sequence variant, missense variant
rs144510878 G>A Risk-factor Coding sequence variant, missense variant
rs201877149 A>G Risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(76)
miRTarBase ID miRNA Experiments Reference
MIRT681854 hsa-miR-1273g-3p HITS-CLIP 23706177
MIRT681853 hsa-miR-4537 HITS-CLIP 23706177
MIRT681852 hsa-miR-6499-3p HITS-CLIP 23706177
MIRT681851 hsa-miR-4252 HITS-CLIP 23706177
MIRT681850 hsa-miR-455-3p HITS-CLIP 23706177
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0001681 Function Sialate O-acetylesterase activity IDA 23308225
GO:0002682 Process Regulation of immune system process IMP 20555325
GO:0005615 Component Extracellular space HDA 16502470
GO:0005764 Component Lysosome IEA
GO:0005975 Process Carbohydrate metabolic process IDA 23308225
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610079 18187 ENSG00000110013
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9HAT2
Protein name Sialate O-acetylesterase (SIAE) (EC 3.1.1.53) (H-Lse) (Sialic acid-specific 9-O-acetylesterase)
Protein 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 (Probabl
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03629 SASA 117 → 380 Carbohydrate esterase, sialic acid-specific acetylesterase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high expression in the testis, prostate, and colon. {ECO:0000269|PubMed:15292578}.
Sequence 
MVAPGLVLGLVLPLILWADRSAGIGFRFASYINNDMVLQKEPAGAVIWGFGTPGATVTVT
LRQGQETIMKKVTSVKAHSDTWMVVLDPMKPGGPFEVMAQQTLEKINFTLRVHDVLFGDV
WLCSGQSNMQMTVLQIFNATRELSNTAAYQSVRILSVSPIQAEQELEDLVAVDLQWSKPT
SENLGHGYFKYMSAVCWLFGRHLYDTLQYPIGLIASSWGGTPIEAWSSGRSLKACGVPKQ
GSIPYDSVTGPSKHSVLWNAMIHPLCNMTLKGVVWYQGESNINYNTDLYNCTFPALIEDW
RETFHRGSQGQTERFFPFGLVQLSSDLSKKSSDDGFPQIRWHQTADFGYVPNPKMPNTFM
AVAMDLCDRDSPFGSIHPRDKQTVAYRLHLGARALAYGEKNLTFEGPLPEKIELLAHKGL
LNLTYYQQIQVQKKDNKIFEISCCSDHRCKWLPASMNTVSTQSLTLAIDSCHGTVVALRY
AWTTWPCEYKQCPLYHPSSALPAPPFIAFITDQGPGHQSNVAK
Sequence length 523
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Autoimmune diseases Autoimmune Diseases rs869025224
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Autoimmune Diseases autoimmune disease, susceptibility to, 6 GenCC
Bipolar Disorder Bipolar Disorder GWAS
Schizophrenia Schizophrenia GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining
Disease Name Relationship Type References
Addison Disease Associate 23011869
Arthritis Rheumatoid Associate 26535733
Autoimmune Diseases Associate 21183218, 23011869, 24748456
Autoimmune Hypophysitis Associate 24748456
Colorectal Neoplasms Associate 14717696
Diabetes Mellitus Type 1 Associate 24748456
Exocrine Pancreatic Insufficiency Associate 35954202
Liver Cirrhosis Biliary Associate 22257840
Medulloblastoma Associate 31197190
Multiple Myeloma Associate 33531688