• Gene id: 54187

Gene Summary

• Gene Symbol: NANS   Gene   UCSC   Ensembl
• Aliases: HEL-S-100, SAS, SEMDCG, SEMDG
• Gene name: N-acetylneuraminate synthase
• Alternate names: sialic acid synthase, N-acetylneuraminate-9-phosphate synthase, N-acetylneuraminic acid phosphate synthase, N-acetylneuraminic acid synthase, epididymis secretory protein Li 100, sialic acid phosphate synthase,
• Gene location: 9q22.33 (12551481: 12525372)     Exons: 4     NC_000019.10
• Gene summary(Entrez): This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (
• OMIM: 605202

Protein Summary

• Protein general information: Q9NR45  
  • Name: Sialic acid synthase (N acetylneuraminate synthase) (EC 2.5.1.56) (N acetylneuraminate 9 phosphate synthase) (EC 2.5.1.57) (N acetylneuraminic acid phosphate synthase) (N acetylneuraminic acid synthase)
  • Length: 359  
  • Mass: 40308
  • Tissue specificity: Ubiquitous.
• Sequence:

  MPLELELCPGRWVGGQHPCFIIAEIGQNHQGDLDVAKRMIRMAKECGADCAKFQKSELEFKFNRKALERPYTSKH
  SWGKTYGEHKRHLEFSHDQYRELQRYAEEVGIFFTASGMDEMAVEFLHELNVPFFKVGSGDTNNFPYLEKTAKKG
  RPMVISSGMQSMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVNLRVISEYQKLFPDIPIGYSGHETGIAISV
  AAVALGAKVLERHITLDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVK
  IPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS

• Structural information:
  • Protein Domains: (294..35-)
    (/note="AFP-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00021"-)
  • Interpro: IPR006190  IPR036732  IPR013785  IPR006013  IPR013132   IPR013974  
  • Prosite: PS50844
  • PDB: 1WVO
  • PDBsum: 1WVO
  • STRING: ENSP00000210444
• Other Databases: GeneCards:  NANS  Malacards:  NANS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047444	N-acylneuraminate-9-phosphate synthase activity	IBA	molecular function
GO:0070085	glycosylation	IBA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016051	carbohydrate biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0047444	N-acylneuraminate-9-phosphate synthase activity	IEA	molecular function
GO:0050462	N-acetylneuraminate synthase activity	IEA	molecular function
GO:0047444	N-acylneuraminate-9-phosphate synthase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0047444	N-acylneuraminate-9-phosphate synthase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006055	CMP-N-acetylneuraminate biosynthetic process	NAS	biological process
GO:0008781	N-acylneuraminate cytidylyltransferase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881