Property Summary

NCBI Gene PubMed Count 24
Grant Count 26
R01 Count 21
Funding $6,848,390.54
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 0.019
ependymoma -1.600 0.028
oligodendroglioma -1.300 0.037
osteosarcoma 1.598 0.001
sonic hedgehog group medulloblastoma -2.400 0.000
medulloblastoma, large-cell -2.400 0.000
primitive neuroectodermal tumor -1.200 0.015
pancreatic ductal adenocarcinoma liver m... -1.492 0.010
tuberculosis 1.400 0.000
adult high grade glioma -1.700 0.000
Pick disease -1.500 0.000
ulcerative colitis -1.100 0.000
ovarian cancer 1.200 0.000

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)
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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.
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