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Aliases for SIAE Gene

Aliases for SIAE Gene

  • Sialic Acid Acetylesterase 2 3 5
  • Sialic Acid-Specific Acetylesterase II 2 3
  • EC 3.1.1.53 4 61
  • H-Lse 3 4
  • YSG2 3 4
  • Cytosolic Sialic Acid 9-O-Acetylesterase Homolog 3
  • Sialic Acid-Specific 9-O-Acetylesterase 4
  • Sialate O-Acetylesterase 3
  • Ysg2 Homolog (Mouse) 2
  • CSE-C 3
  • AIS6 3
  • CSEC 3
  • LSE 3

External Ids for SIAE Gene

Previous HGNC Symbols for SIAE Gene

  • YSG2

Previous GeneCards Identifiers for SIAE Gene

  • GC11M124011
  • GC11M124505
  • GC11M120448

Summaries for SIAE Gene

Entrez Gene Summary for SIAE 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 cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]

GeneCards Summary for SIAE Gene

SIAE (Sialic Acid Acetylesterase) is a Protein Coding gene. Diseases associated with SIAE include Autoimmune Disease 6 and Marasmus. GO annotations related to this gene include sialate O-acetylesterase activity.

UniProtKB/Swiss-Prot for SIAE Gene

  • Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIAE Gene

Genomics for SIAE Gene

Regulatory Elements for SIAE Gene

Enhancers for SIAE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F124717 0.9 FANTOM5 Ensembl ENCODE 12.2 -22.2 -22228 1.3 WRNIP1 ZNF76 KLF17 FEZF1 GLIS2 ZNF366 SCRT2 EGR2 JUNB ZNF488 SPA17 ESAM NRGN LOC102724457 VSIG2 SIAE LOC101929340 ROBO3 ROBO4 GC11P124740
GH11F124768 1.3 Ensembl ENCODE 11.7 -74.9 -74905 3.3 CTCF CBX3 JUN TEAD3 ZFHX2 ZNF316 NCOR1 NR2F6 FOS TCF7L2 NRGN SIAE SPA17 LOC100507283 MSANTD2 ROBO3 VSIG2 ESAM ENSG00000279342
GH11F124793 0.6 Ensembl ENCODE 11.4 -98.1 -98097 0.4 CTCF ZNF654 ESRRA NR2F1 TRIM22 ZNF384 RAD21 KLF16 SCRT2 SMC3 LOC101929340 ESAM VSIG2 LOC102724457 SIAE SPA17 NRGN ROBO3 LOC100507283 ENSG00000254509
GH11F124792 0.2 Ensembl 11.4 -96.7 -96694 0.4 CEBPB ASH2L LOC101929340 ESAM VSIG2 LOC102724457 SIAE SPA17 NRGN ROBO3 ENSG00000254509 LOC100507283
GH11F124836 0.8 Ensembl ENCODE 11.3 -141.4 -141372 2.0 CTCF ZNF384 RAD21 ZFHX2 SMC3 KLF7 NFE2 DNMT1 MIXL1 SMARCA5 ROBO3 LOC100507283 MSANTD2 SIAE SPA17 ESAM LOC101929340 VSIG2 LOC102724457 NRGN
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SIAE on UCSC Golden Path with GeneCards custom track

Genomic Location for SIAE Gene

Chromosome:
11
Start:
124,633,113 bp from pter
End:
124,695,707 bp from pter
Size:
62,595 bases
Orientation:
Minus strand

Genomic View for SIAE Gene

Genes around SIAE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIAE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIAE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIAE Gene

Proteins for SIAE Gene

  • Protein details for SIAE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAT2-SIAE_HUMAN
    Recommended name:
    Sialate O-acetylesterase
    Protein Accession:
    Q9HAT2
    Secondary Accessions:
    • B3KPB0
    • Q8IUT9
    • Q9HAU7
    • Q9NT71

    Protein attributes for SIAE Gene

    Size:
    523 amino acids
    Molecular mass:
    58315 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SIAE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIAE Gene

Selected DME Specific Peptides for SIAE Gene

Post-translational modifications for SIAE Gene

  • Glycosylation at Asn 107, Asn 138, Asn 267, Asn 290, Asn 401, and Asn 422
  • Modification sites at PhosphoSitePlus

Other Protein References for SIAE Gene

Domains & Families for SIAE Gene

Protein Domains for SIAE Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SIAE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SIAE: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SIAE Gene

Function for SIAE Gene

Molecular function for SIAE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
N-acetyl-O-acetylneuraminate + H(2)O = N-acetylneuraminate + acetate.
UniProtKB/Swiss-Prot Function:
Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.

Enzyme Numbers (IUBMB) for SIAE Gene

Gene Ontology (GO) - Molecular Function for SIAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001681 sialate O-acetylesterase activity IDA 23308225
GO:0016787 hydrolase activity IEA --
GO:0052689 carboxylic ester hydrolase activity IEA --
genes like me logo Genes that share ontologies with SIAE: view
genes like me logo Genes that share phenotypes with SIAE: view

Animal Models for SIAE Gene

MGI Knock Outs for SIAE:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIAE Gene

Localization for SIAE Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIAE Gene

Lysosome. Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIAE Gene COMPARTMENTS Subcellular localization image for SIAE gene
Compartment Confidence
extracellular 5
lysosome 4
vacuole 4
cytosol 2
endoplasmic reticulum 2
nucleus 2

Gene Ontology (GO) - Cellular Components for SIAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 16502470
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SIAE: view

Pathways & Interactions for SIAE Gene

SuperPathways for SIAE Gene

No Data Available

Interacting Proteins for SIAE Gene

Selected Interacting proteins: Q9HAT2-SIAE_HUMAN for SIAE Gene via IID

Gene Ontology (GO) - Biological Process for SIAE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002682 regulation of immune system process IMP 20555325
GO:0005975 carbohydrate metabolic process IDA 23308225
genes like me logo Genes that share ontologies with SIAE: view

No data available for Pathways by source and SIGNOR curated interactions for SIAE Gene

Drugs & Compounds for SIAE Gene

(2) Drugs for SIAE Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 107

(2) Additional Compounds for SIAE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylneuraminic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-delta-glycero-beta-delta-galacto-2-Nonulopyranosonate
131-48-6
N-acetyl-O-acetylneuraminate
genes like me logo Genes that share compounds with SIAE: view

Transcripts for SIAE Gene

Unigene Clusters for SIAE Gene

Sialic acid acetylesterase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SIAE Gene

No ASD Table

Relevant External Links for SIAE Gene

GeneLoc Exon Structure for
SIAE
ECgene alternative splicing isoforms for
SIAE

Expression for SIAE Gene

mRNA expression in normal human tissues for SIAE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SIAE Gene

This gene is overexpressed in Bone marrow stromal cell (6.8) and Urine (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SIAE Gene



Protein tissue co-expression partners for SIAE Gene

NURSA nuclear receptor signaling pathways regulating expression of SIAE Gene:

SIAE

SOURCE GeneReport for Unigene cluster for SIAE Gene:

Hs.10056

mRNA Expression by UniProt/SwissProt for SIAE Gene:

Q9HAT2-SIAE_HUMAN
Tissue specificity: Widely expressed with high expression in the testis, prostate, and colon.
genes like me logo Genes that share expression patterns with SIAE: view

Primer Products

No data available for mRNA differential expression in normal tissues for SIAE Gene

Orthologs for SIAE Gene

This gene was present in the common ancestor of chordates.

Orthologs for SIAE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIAE 34 35
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia SIAE 34 35
  • 84.68 (n)
mouse
(Mus musculus)
Mammalia Siae 34 16 35
  • 82.73 (n)
rat
(Rattus norvegicus)
Mammalia Siae 34
  • 82.4 (n)
cow
(Bos Taurus)
Mammalia SIAE 34 35
  • 81.1 (n)
oppossum
(Monodelphis domestica)
Mammalia SIAE 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIAE 35
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIAE 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493404 34
  • 57.42 (n)
Str.14836 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68688 34
zebrafish
(Danio rerio)
Actinopterygii siae 34 35
  • 56.94 (n)
zgc56454 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10577 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToMany
-- 35
  • 41 (a)
OneToMany
-- 35
  • 40 (a)
OneToMany
-- 35
  • 39 (a)
OneToMany
-- 35
  • 37 (a)
OneToMany
-- 35
  • 32 (a)
OneToMany
Species where no ortholog for SIAE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SIAE Gene

ENSEMBL:
Gene Tree for SIAE (if available)
TreeFam:
Gene Tree for SIAE (if available)

Paralogs for SIAE Gene

No data available for Paralogs for SIAE Gene

Variants for SIAE Gene

Sequence variations from dbSNP and Humsavar for SIAE Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs143070599 Autoimmune disease 6 (AIS6) [MIM:613551], other 124,649,754(+) GCCAG(A/C)ACACT reference, missense
rs149466359 Autoimmune disease 6 (AIS6) [MIM:613551] 124,649,707(+) CAGCC(C/T)GATGG reference, missense
rs200862001 Autoimmune disease 6 (AIS6) [MIM:613551] 124,649,653(+) TGACC(A/G)TCCAG reference, missense
rs201877149 Autoimmune disease 6 (AIS6) [MIM:613551], other 124,638,651(+) CTTCA(A/G)AGGTC reference, missense
rs376857712 Autoimmune disease 6 (AIS6) [MIM:613551] 124,637,088(+) ATAGC(A/G)GAGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SIAE Gene

Variant ID Type Subtype PubMed ID
esv2678188 CNV deletion 23128226
esv3627985 CNV loss 21293372
nsv1045156 CNV loss 25217958

Variation tolerance for SIAE Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.73; 78.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SIAE Gene

Human Gene Mutation Database (HGMD)
SIAE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIAE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIAE Gene

Disorders for SIAE Gene

MalaCards: The human disease database

(2) MalaCards diseases for SIAE Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autoimmune disease 6
  • autoimmune disease susceptibility 6
marasmus
  • nutritional atrophy
- elite association - COSMIC cancer census association via MalaCards
Search SIAE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SIAE_HUMAN
  • 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 variations affecting the gene represented in this entry.

Relevant External Links for SIAE

Genetic Association Database (GAD)
SIAE
Human Genome Epidemiology (HuGE) Navigator
SIAE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SIAE
genes like me logo Genes that share disorders with SIAE: view

No data available for Genatlas for SIAE Gene

Publications for SIAE Gene

  1. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. (PMID: 20555325) Surolia I. … Pillai S. (Nature 2010) 3 4 46 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PMID: 18711365) Ferreira M.A. … Craddock N. (Nat. Genet. 2008) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. A gene encoding sialic-acid-specific 9-O-acetylesterase found in human adult testis. (PMID: 15292578) Zhu H. … Sha J.H. (J. Biomed. Biotechnol. 2004) 3 4 64

Products for SIAE Gene

Sources for SIAE Gene

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