Property Summary

NCBI Gene PubMed Count 24
PubMed Score 146.27
PubTator Score 44.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytic glioma -1.500 1.9e-02
ependymoma -1.600 2.8e-02
oligodendroglioma -1.300 3.7e-02
osteosarcoma 1.598 1.4e-03
sonic hedgehog group medulloblastoma -2.400 5.2e-08
medulloblastoma, large-cell -2.400 6.4e-06
primitive neuroectodermal tumor -1.200 1.5e-02
pancreatic ductal adenocarcinoma liver m... -1.492 9.9e-03
tuberculosis 1.400 8.8e-06
adult high grade glioma -1.700 3.0e-05
Pick disease -1.500 2.4e-05
ulcerative colitis -1.100 8.3e-05
ovarian cancer 1.200 4.5e-04

MLP Assay (3)

AID Type Active / Inconclusive / Inactive Description
1053197 screening 2555 / 0 / 367701 Fluorescence polarization-based biochemical high throughput primary assay to identify inhibitors of sialic acid acetylesterase (SIAE)
1083213 summary 0 / 0 / 0 Summary of the probe development effort to identify inhibitors of sialic acid acetylesterase (SIAE)
1117263 screening 304 / 0 / 2027 Fluorescence polarization-based biochemical high throughput confirmation assay to identify inhibitors of sialic acid acetylesterase (SIAE)

Gene RIF (13)

PMID Text
26535733 Authors determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population
24748456 We found A467V SIAE variants (c.1400C>T, rs7941523) in a heterozygous state in all the patients with anti-PIT-1 antibody syndrome.
23308225 SIAE may be associated with autoimmunity.
23011869 The analysis does not support a role for rare variants in SIAE in the pathogenesis of autoimmune Addison's disease.
22913750 There is no evidence for SIAE genetic variants affecting patients with vitiligo.
22257840 SIAE variants play a role in primary biliary cirrhosis.
21803834 These studies demonstrate that both SIAE and SOAT activities seem to be responsible for the enhanced level of Neu5,9Ac(2) in lymphoblasts, which is a hallmark in acute lymphoblastic leukemia
21615338 Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease.
21183218 SIAE expression is upregulated in placentas from pregnancies complicated by preeclampsia.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20555325 Observational study of gene-disease association. (HuGE Navigator)
20555325 odds ratio for inheriting defective SIAE alleles was 8.6 in all autoimmune subjects, 8.3 in subjects with rheumatoid arthritis, and 7.9 in subjects with type I diabetes
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MVAPGLVLGLVLPLILWADRSAGIGFRFASYINNDMVLQKEPAGAVIWGFGTPGATVTVTLRQGQETIMK      1 - 70
KVTSVKAHSDTWMVVLDPMKPGGPFEVMAQQTLEKINFTLRVHDVLFGDVWLCSGQSNMQMTVLQIFNAT     71 - 140
RELSNTAAYQSVRILSVSPIQAEQELEDLVAVDLQWSKPTSENLGHGYFKYMSAVCWLFGRHLYDTLQYP    141 - 210
IGLIASSWGGTPIEAWSSGRSLKACGVPKQGSIPYDSVTGPSKHSVLWNAMIHPLCNMTLKGVVWYQGES    211 - 280
NINYNTDLYNCTFPALIEDWRETFHRGSQGQTERFFPFGLVQLSSDLSKKSSDDGFPQIRWHQTADFGYV    281 - 350
PNPKMPNTFMAVAMDLCDRDSPFGSIHPRDKQTVAYRLHLGARALAYGEKNLTFEGPLPEKIELLAHKGL    351 - 420
LNLTYYQQIQVQKKDNKIFEISCCSDHRCKWLPASMNTVSTQSLTLAIDSCHGTVVALRYAWTTWPCEYK    421 - 490
QCPLYHPSSALPAPPFIAFITDQGPGHQSNVAK                                         491 - 523
//

Text Mined References (27)

PMID Year Title
26535733 2015 Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population.
24748456 2014 A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.
24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23308225 2013 M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.
23011869 2012 The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.
22913750 2013 No evidence for rare pathological SIAE coding variants in patients with vitiligo.
22257840 2012 Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.
21803834 2012 Regulation of O-acetylation of sialic acids by sialate-O-acetyltransferase and sialate-O-acetylesterase activities in childhood acute lymphoblastic leukemia.
21615338 2011 Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population.
21183218 2011 Transcriptional profiling of human placentas from pregnancies complicated by preeclampsia reveals disregulation of sialic acid acetylesterase and immune signalling pathways.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20555325 2010 Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18711365 2008 Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16502470 2006 Human colostrum: identification of minor proteins in the aqueous phase by proteomics.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15292578 2004 A Gene Encoding Sialic-Acid-Specific 9-O-Acetylesterase Found in Human Adult Testis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10464298 1999 Lysosomal and cytosolic sialic acid 9-O-acetylesterase activities can Be encoded by one gene via differential usage of a signal peptide-encoding exon at the N terminus.