NANS

NANS
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1WVO
Identifiers
Aliases	NANS, HEL-S-100, SAS, N-acetylneuraminate synthase, SEMDG, SEMDCG
External IDs	OMIM: 605202 MGI: 2149820 HomoloGene: 10343 GeneCards: NANS
EC number	2.5.1.57
Gene location (Human)
Chr.	Chromosome 9 (human)
End	98,083,077 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	46,503,632 bp
RNA expression pattern
	Top expressed in
	rectum; ; palpebral conjunctiva; ; parotid gland; ; prostate; ; trachea; ; bronchial epithelial cell; ; minor salivary gland; ; pylorus; ; body of stomach; ; thymus;
	Top expressed in
	left colon; ; submandibular gland; ; lacrimal gland; ; seminal vesicula; ; basilar part of occipital bone; ; parotid gland; ; crypt of lieberkuhn of small intestine; ; prostate; ; internal carotid artery; ; yolk sac;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	N-acetylneuraminate synthase activity; transferase activity; catalytic activity; N-acylneuraminate cytidylyltransferase activity; N-acylneuraminate-9-phosphate synthase activity;
Cellular component	cytoplasm; cytosol; extracellular exosome;
Biological process	carbohydrate biosynthetic process; CMP-N-acetylneuraminate biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	54187
	94181
	ENSG00000095380
	ENSMUSG00000028334
	Q9NR45; Q5TBR0
	Q99J77
	NM_018946
	NM_053179
	NP_061819
	NP_444409
	Wikidata
View/Edit Human	View/Edit Mouse

Sialic acid synthase is an enzyme that in humans is encoded by the NANS gene.^[5]^[6]

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 (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively. However, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant.^[6]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000095380 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028334 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Lawrence SM, Huddleston KA, Pitts LR, Nguyen N, Lee YC, Vann WF, Coleman TA, Betenbaugh MJ (Jul 2000). "Cloning and expression of the human N-acetylneuraminic acid phosphate synthase gene with 2-keto-3-deoxy-D-glycero- D-galacto-nononic acid biosynthetic ability". J Biol Chem. 275 (23): 17869–77. doi:10.1074/jbc.M000217200. PMID 10749855.
1 2 "Entrez Gene: NANS N-acetylneuraminic acid synthase (sialic acid synthase)".

Lolas F (1978). "Event-related slow brain potentials, cognitive processes, and alexithymia". Psychotherapy and Psychosomatics. 30 (2): 116–29. doi:10.1159/000287290. PMID 693772.
Nakata D, Close BE, Colley KJ, et al. (2000). "Molecular cloning and expression of the mouse N-acetylneuraminic acid 9-phosphate synthase which does not have deaminoneuraminic acid (KDN) 9-phosphate synthase activity". Biochem. Biophys. Res. Commun. 273 (2): 642–8. doi:10.1006/bbrc.2000.2983. PMID 10873658.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Hao J, Balagurumoorthy P, Sarilla S, Sundaramoorthy M (2006). "Cloning, expression, and characterization of sialic acid synthases". Biochem. Biophys. Res. Commun. 338 (3): 1507–14. doi:10.1016/j.bbrc.2005.10.113. PMID 16274664.
Hamada T, Ito Y, Abe T, et al. (2006). "Solution structure of the antifreeze-like domain of human sialic acid synthase". Protein Sci. 15 (5): 1010–6. doi:10.1110/ps.051700406. PMC 2242509. PMID 16597820.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000095380 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028334 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10749855-5] Lawrence SM, Huddleston KA, Pitts LR, Nguyen N, Lee YC, Vann WF, Coleman TA, Betenbaugh MJ (Jul 2000). "Cloning and expression of the human N-acetylneuraminic acid phosphate synthase gene with 2-keto-3-deoxy-D-glycero- D-galacto-nononic acid biosynthetic ability". J Biol Chem. 275 (23): 17869–77. doi:10.1074/jbc.M000217200. PMID 10749855.

[entrez-6] 1 2 "Entrez Gene: NANS N-acetylneuraminic acid synthase (sialic acid synthase)".

[1]

[2]

[3]

[4]

[5]

[6]

References

Further reading