NANS
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]
| 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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000095380 - Ensembl, maj 2017
- ^ a b c 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.
- ^ a b "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
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