NANS

NANS
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1WVO
Identifikatori
Aliasi	NANS
Vanjski ID-jevi	OMIM: 605202 MGI: 2149820 HomoloGene: 10343 GeneCards: NANS
EC broj	2.5.1.57
Lokacija gena (čovjek)
Hrom.	Hromosom 9 (čovjek)
Kraj	98,083,077 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	46,503,632 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• N-acetylneuraminate synthase activity; • aktivnost sa transferazom; • catalytic activity; • N-acylneuraminate cytidylyltransferase activity; • N-acylneuraminate-9-phosphate synthase activity;
Ćelijska komponenta	• citoplazma; • citosol; • Egzosom;
Biološki proces	• carbohydrate biosynthetic process; • CMP-N-acetylneuraminate biosynthetic process;
	Izvori:Amigo / QuickGO
Ortolozi
	54187
	94181
	ENSG00000095380
	ENSMUSG00000028334
	Q9NR45; Q5TBR0
	Q99J77
	NM_018946
	NM_053179
	NP_061819
	NP_444409
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Sintaza sijalne kiseline je enzim koji je kod ljudi kodiran genom NANS.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 359 aminokiselina, а molekulska težina 40.308 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MPLELELCPG	RWVGGQHPCF	IIAEIGQNHQ	GDLDVAKRMI	RMAKECGADC
AKFQKSELEF	KFNRKALERP	YTSKHSWGKT	YGEHKRHLEF	SHDQYRELQR
YAEEVGIFFT	ASGMDEMAVE	FLHELNVPFF	KVGSGDTNNF	PYLEKTAKKG
RPMVISSGMQ	SMDTMKQVYQ	IVKPLNPNFC	FLQCTSAYPL	QPEDVNLRVI
SEYQKLFPDI	PIGYSGHETG	IAISVAAVAL	GAKVLERHIT	LDKTWKGSDH
SASLEPGELA	ELVRSVRLVE	RALGSPTKQL	LPCEMACNEK	LGKSVVAKVK
IPEGTILTMD	MLTVKVGEPK	GYPPEDIFNL	VGKKVLVTVE	EDDTIMEELV
DNHGKKIKS

Funkcija

Ovaj gen kodira enzim koji funkcionira u biosintetskim putevima sijalinih kiselina. In vitro, kodirani protein koristi N-acetilmanozamin 6-fosfat i manoza 6-fosfat kao supstrate za stvaranje fosforiliranih oblika N-acetilneuraminske kiseline (Neu5Ac) i 2-keto-3 -deoksi-D-glicero-D-galakto-nonske kiseline (KDN). Međutim, pokazuje mnogo veću aktivnost prema fosfatnom proizvodu Neu5Ac.

U ćelijama insekata, ekspresija ovog gena rezultira proizvodnjom Neu5Ac i KDN. Ovaj gen je povezan sa genom sintaze sijalne kiseline neuB E. coli i može djelimično obnoviti aktivnost sintaze sijalne kiseline u E. coli neuB-negativni mutant.^[6]

Reference

1 2 3 GRCh38: Ensembl release 89: ENSG00000095380 - Ensembl, maj 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028334 - Ensembl, maj 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)".
↑ "UniProt, Q9NR45". Pristupljeno 10. 9. 2021.

Dopunska literatura

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.

Vanjski linkovi

{{PDB Gallery|geneid=54187

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

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028334 - Ensembl, maj 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)".

[UniProt-7] "UniProt, Q9NR45". Pristupljeno 10. 9. 2021.

[5]