Biology:NAGPA
 Generic protein structure example |
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase is an enzyme that in humans is encoded by the NAGPA gene.[1][2][3]
Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. This reaction most likely occurs in the trans-Golgi network. This enzyme functions as a homotetramer of two disulfide-linked homodimers. In addition to having an N-terminal signal peptide, the protein's C-terminus contains multiple signals for trafficking it between lysosomes, the plasma membrane, and trans-Golgi network.[3]
To date, the only disorder in humans associated with this gene is Persistent Neurodevelopmental Stuttering (PNdS).[4]
References
- ↑ "Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase". J Biol Chem 274 (46): 32778–85. Jan 2000. doi:10.1074/jbc.274.46.32778. PMID 10551838.
- ↑ "Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin". J Biol Chem 277 (33): 29737–44. Aug 2002. doi:10.1074/jbc.M202369200. PMID 12058031.
- ↑ 3.0 3.1 "Entrez Gene: NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51172.
- ↑ Lee, W. S.; Kang, C.; Drayna, D.; Kornfeld, S. (2011). "Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering". The Journal of Biological Chemistry 286 (46): 39786–93. doi:10.1074/jbc.M111.295899. PMID 21956109.
Further reading
- "Purification and characterization of human serum N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase.". Arch. Biochem. Biophys. 319 (2): 413–25. 1995. doi:10.1006/abbi.1995.1312. PMID 7786023.
- "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
- "Purification and characterization of human lymphoblast N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase.". Glycobiology 6 (6): 619–26. 1997. doi:10.1093/glycob/6.6.619. PMID 8922957.
- "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- "Lysosomal hydrolase mannose 6-phosphate uncovering enzyme resides in the trans-Golgi network.". Mol. Biol. Cell 12 (6): 1623–31. 2001. doi:10.1091/mbc.12.6.1623. PMID 11408573.
- "Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme.". J. Biol. Chem. 277 (5): 3544–51. 2002. doi:10.1074/jbc.M108531200. PMID 11723124.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Characterization of the TGN exit signal of the human mannose 6-phosphate uncovering enzyme.". J. Cell Sci. 118 (Pt 13): 2949–56. 2005. doi:10.1242/jcs.02434. PMID 15976452.
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