NAGPA
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase is an enzyme that in humans is encoded by the NAGPA gene.{{cite journal | vauthors = Kornfeld R, Bao M, Brewer K, Noll C, Canfield W | author-link1=Rosalind Kornfeld|title = Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | journal = J Biol Chem | volume = 274 | issue = 46 | pages = 32778–85 |date=Jan 2000 | pmid = 10551838 | doi =10.1074/jbc.274.46.32778 | doi-access = free }}{{cite journal | vauthors = Do H, Lee WS, Ghosh P, Hollowell T, Canfield W, Kornfeld S | title = Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin | journal = J Biol Chem | volume = 277 | issue = 33 | pages = 29737–44 |date=Aug 2002 | pmid = 12058031 | doi = 10.1074/jbc.M202369200 | doi-access = free }}{{cite web | title = Entrez Gene: NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51172}}
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.
To date, the only disorder in humans associated with this gene is Persistent Neurodevelopmental Stuttering (PNdS).{{cite journal | title = Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering| year = 2011| pmid = 21956109| last1 = Lee| first1 = W. S.| last2 = Kang| first2 = C.| last3 = Drayna| first3 = D.| last4 = Kornfeld| first4 = S.| journal = The Journal of Biological Chemistry| volume = 286| issue = 46| pages = 39786–93| doi = 10.1074/jbc.M111.295899| pmc = 3220557| doi-access = free}}
References
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Further reading
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- {{cite journal | vauthors=Lee JK, Pierce M |title=Purification and characterization of human serum N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. |journal=Arch. Biochem. Biophys. |volume=319 |issue= 2 |pages= 413–25 |year= 1995 |pmid= 7786023 |doi= 10.1006/abbi.1995.1312 }}
- {{cite journal |vauthors=Andersson B, Wentland MA, Ricafrente JY, etal |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
- {{cite journal | vauthors=Page T, Zhao KW, Tao L, Miller AL |title=Purification and characterization of human lymphoblast N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. |journal=Glycobiology |volume=6 |issue= 6 |pages= 619–26 |year= 1997 |pmid= 8922957 |doi=10.1093/glycob/6.6.619 |doi-access=free }}
- {{cite journal |vauthors=Yu W, Andersson B, Worley KC, etal |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi= 10.1101/gr.7.4.353| pmc=139146 }}
- {{cite journal | vauthors=Rohrer J, Kornfeld R |author-link2=Rosalind Kornfeld|title=Lysosomal hydrolase mannose 6-phosphate uncovering enzyme resides in the trans-Golgi network. |journal=Mol. Biol. Cell |volume=12 |issue= 6 |pages= 1623–31 |year= 2001 |pmid= 11408573 |doi= 10.1091/mbc.12.6.1623| pmc=37329 }}
- {{cite journal | vauthors=Lee WS, Rohrer J, Kornfeld R, Kornfeld S |author-link3=Rosalind Kornfeld|author-link4=Stuart Kornfeld|title=Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme. |journal=J. Biol. Chem. |volume=277 |issue= 5 |pages= 3544–51 |year= 2002 |pmid= 11723124 |doi= 10.1074/jbc.M108531200 |doi-access= free }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Nair P, Schaub BE, Huang K, etal |title=Characterization of the TGN exit signal of the human mannose 6-phosphate uncovering enzyme. |journal=J. Cell Sci. |volume=118 |issue= Pt 13 |pages= 2949–56 |year= 2005 |pmid= 15976452 |doi= 10.1242/jcs.02434 |doi-access= free }}
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