NANS (N-acetylneuraminate synthase)

Gene

• Entrez ID: 54187
• Gene name: N-acetylneuraminate synthase
• Gene symbol: NANS
• Synonyms (NCBI Gene): HEL-S-100, SAS, SEMDCG, SEMDG
• Chromosome: 9
• Chromosome location: 9q22.33
• Summary: 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 (

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369033671	A>G,T	Likely-pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043076	hsa-miR-324-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	NAS	10749855
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006054	Process	N-acetylneuraminate metabolic process	IEA
GO:0006055	Process	CMP-N-acetylneuraminate biosynthetic process	IEA
GO:0006055	Process	CMP-N-acetylneuraminate biosynthetic process	IMP	31121216
GO:0006055	Process	CMP-N-acetylneuraminate biosynthetic process	NAS	10749855
GO:0016051	Process	Carbohydrate biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0046380	Process	N-acetylneuraminate biosynthetic process	IMP	31121216
GO:0047444	Function	N-acylneuraminate-9-phosphate synthase activity	IBA
GO:0047444	Function	N-acylneuraminate-9-phosphate synthase activity	IDA	10749855
GO:0047444	Function	N-acylneuraminate-9-phosphate synthase activity	IEA
GO:0047444	Function	N-acylneuraminate-9-phosphate synthase activity	TAS
GO:0050462	Function	N-acetylneuraminate synthase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070085	Process	Glycosylation	IBA
GO:0070085	Process	Glycosylation	IMP	31121216

Other IDs

• MIM: 605202
• HGNC: 19237
• e!Ensembl: ENSG00000095380

Protein

• UniProt ID: Q9NR45
• Protein name: N-acetylneuraminate-9-phosphate synthase (EC 2.5.1.57) (3-deoxy-D-glycero-D-galacto-nononate 9-phosphate synthase) (EC 2.5.1.132) (N-acetylneuraminic acid phosphate synthase) (NANS) (Sialic acid phosphate synthase) (Sialic acid synthase)
• Protein function: Catalyzes the condensation of phosphoenolpyruvate (PEP) and N-acetylmannosamine 6-phosphate (ManNAc-6-P) to synthesize N-acetylneuraminate-9-phosphate (Neu5Ac-9-P) (PubMed:10749855). Also catalyzes the condensation of PEP and D-mannose 6-phospha
• PDB: 1WVO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03102	NeuB	39 → 278	NeuB family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10749855}.
• Sequence:

  MPLELELCPGRWVGGQHPCFIIAEIGQNHQGDLDVAKRMIRMAKECGADCAKFQKSELEF
  KFNRKALERPYTSKHSWGKTYGEHKRHLEFSHDQYRELQRYAEEVGIFFTASGMDEMAVE
  FLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFC
  FLQCTSAYPLQPEDVNLRVISEYQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHIT
  LDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVK
  IPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS

• Sequence length: 359

Pathways

KEGG:

Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars

Reactome:

Sialic acid metabolism

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Spondyloepimetaphyseal dysplasia, Genevieve type	Likely pathogenic; Pathogenic	rs2117967310, rs2131619700, rs1828949796, rs745594354, rs879255602, rs878853267, rs779218846, rs878852980, rs878852981, rs200709126, rs922323466, rs369033671	RCV001836674 RCV002246187 RCV002246188 RCV002247147 RCV000224207 RCV000224496 RCV000224899 RCV000224713 RCV000224249 RCV003492851 RCV003314318 RCV002226750

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Benign; Likely benign	rs143387431	RCV005907820
Clear cell carcinoma of kidney	Benign; Likely benign	rs143387431	RCV005907821
NANS-related disorder	Uncertain significance; Likely benign; Benign	rs117325934, rs139463249, rs200152488, rs771389656, rs7030291, rs139706489, rs143387431, rs148983734	RCV003941177 RCV003978636 RCV003978574 RCV003949462 RCV003910491 RCV003968276 RCV003950706 RCV003970450
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs143387431	RCV005907823
Sarcoma	Benign; Likely benign	rs143387431	RCV005907822
Thymoma	Benign; Likely benign	rs143387431	RCV005907824
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs143387431	RCV005907825

Associations from Text Mining
Disease Name	Relationship Type	References
Developmental Disabilities	Associate	33130469
HEM dysplasia	Associate	33130469
Intellectual Disability	Associate	36224347
N Acetylneuraminic acid storage disease	Associate	36224347
Ray Peterson Scott syndrome	Associate	36224347
Spondylometaepiphyseal Dysplasia Short Limb Hand Type	Associate	36224347
Thyroid Neoplasms	Associate	33903625
Virus Diseases	Associate	35354039