• Gene id: 54414

Gene Summary

• Gene Symbol: SIAE   Gene   UCSC   Ensembl
• Aliases: AIS6, CSE-C, CSEC, LSE, YSG2
• Gene name: sialic acid acetylesterase
• Alternate names: sialate O-acetylesterase, H-Lse, cytosolic sialic acid 9-O-acetylesterase homolog, sialic acid-specific acetylesterase II,
• Gene location: 11q24.2 (158831350: 158849501)     Exons: 7     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 610079

Protein Summary

• Protein general information: Q9HAT2  
  • Name: Sialate O acetylesterase (EC 3.1.1.53) (H Lse) (Sialic acid specific 9 O acetylesterase)
  • Length: 523  
  • Mass: 58315
  • Tissue specificity: Widely expressed with high expression in the testis, prostate, and colon. {ECO
• Sequence:

  MVAPGLVLGLVLPLILWADRSAGIGFRFASYINNDMVLQKEPAGAVIWGFGTPGATVTVTLRQGQETIMKKVTSV
  KAHSDTWMVVLDPMKPGGPFEVMAQQTLEKINFTLRVHDVLFGDVWLCSGQSNMQMTVLQIFNATRELSNTAAYQ
  SVRILSVSPIQAEQELEDLVAVDLQWSKPTSENLGHGYFKYMSAVCWLFGRHLYDTLQYPIGLIASSWGGTPIEA
  WSSGRSLKACGVPKQGSIPYDSVTGPSKHSVLWNAMIHPLCNMTLKGVVWYQGESNINYNTDLYNCTFPALIEDW
  RETFHRGSQGQTERFFPFGLVQLSSDLSKKSSDDGFPQIRWHQTADFGYVPNPKMPNTFMAVAMDLCDRDSPFGS
  IHPRDKQTVAYRLHLGARALAYGEKNLTFEGPLPEKIELLAHKGLLNLTYYQQIQVQKKDNKIFEISCCSDHRCK
  WLPASMNTVSTQSLTLAIDSCHGTVVALRYAWTTWPCEYKQCPLYHPSSALPAPPFIAFITDQGPGHQSNVAK

• Structural information:
  • Interpro: IPR005181  IPR036514  IPR039329  
  • STRING: ENSP00000263593
• Other Databases: GeneCards:  SIAE  Malacards:  SIAE

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001681	sialate O-acetylesterase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0052689	carboxylic ester hydrolase activity	IEA	molecular function
GO:0001681	sialate O-acetylesterase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0001681	sialate O-acetylesterase activity	IDA	molecular function
GO:0005975	carbohydrate metabolic process	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0002682	regulation of immune system process	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq