NAGPA

NAGPA
Identifiers
Aliases	NAGPA, Nagpa, AI596180, UCE, APAA, N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
External IDs	OMIM: 607985; MGI: 1351598; HomoloGene: 8466; GeneCards: NAGPA; OMA:NAGPA - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	5,034,141 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	5,021,876 bp
RNA expression pattern
	Top expressed in
	middle temporal gyrus; ; Brodmann area 10; ; right frontal lobe; ; oocyte; ; primary visual cortex; ; Brodmann area 9; ; secondary oocyte; ; Brodmann area 23; ; granulocyte; ; monocyte;
	Top expressed in
	interventricular septum; ; yolk sac; ; right kidney; ; genital tubercle; ; submandibular gland; ; granulocyte; ; lip; ; esophagus; ; morula; ; embryo;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity; hydrolase activity; protein binding;
Cellular component	integral component of membrane; Golgi cisterna membrane; Golgi apparatus; membrane; integral component of plasma membrane;
Biological process	protein glycosylation; protein targeting to lysosome; lysosome organization; secretion of lysosomal enzymes; carbohydrate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	51172
	27426
	ENSG00000103174
	ENSMUSG00000023143
	Q9UK23
	Q8BJ48
	NM_016256
	NM_013796
	NP_057340
	NP_038824
	Wikidata
View/Edit Human	View/Edit Mouse

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N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase is an enzyme that in humans is encoded by the NAGPA gene.^[5]^[6]^[7]

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.^[7]

To date, the only disorder in humans associated with this gene is Persistent Neurodevelopmental Stuttering (PNdS).^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000103174 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000023143 – 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.
^ Kornfeld R, Bao M, Brewer K, Noll C, Canfield W (Jan 2000). "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. doi:10.1074/jbc.274.46.32778. PMID 10551838.
^ Do H, Lee WS, Ghosh P, Hollowell T, Canfield W, Kornfeld S (Aug 2002). "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. doi:10.1074/jbc.M202369200. PMID 12058031.
^ ^a ^b "Entrez Gene: NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase".
^ 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. PMC 3220557. PMID 21956109.

Lee JK, Pierce M (1995). "Purification and characterization of human serum N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase". Arch. Biochem. Biophys. 319 (2): 413–25. doi:10.1006/abbi.1995.1312. PMID 7786023.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Page T, Zhao KW, Tao L, Miller AL (1997). "Purification and characterization of human lymphoblast N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase". Glycobiology. 6 (6): 619–26. doi:10.1093/glycob/6.6.619. PMID 8922957.
Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Rohrer J, Kornfeld R (2001). "Lysosomal hydrolase mannose 6-phosphate uncovering enzyme resides in the trans-Golgi network". Mol. Biol. Cell. 12 (6): 1623–31. doi:10.1091/mbc.12.6.1623. PMC 37329. PMID 11408573.
Lee WS, Rohrer J, Kornfeld R, Kornfeld S (2002). "Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme". J. Biol. Chem. 277 (5): 3544–51. doi:10.1074/jbc.M108531200. PMID 11723124.
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.
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.
Nair P, Schaub BE, Huang K, et al. (2005). "Characterization of the TGN exit signal of the human mannose 6-phosphate uncovering enzyme". J. Cell Sci. 118 (Pt 13): 2949–56. doi:10.1242/jcs.02434. PMID 15976452.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000103174 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000023143 – 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.

[pmid10551838-5] Kornfeld R, Bao M, Brewer K, Noll C, Canfield W (Jan 2000). "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. doi:10.1074/jbc.274.46.32778. PMID 10551838.

[pmid12058031-6] Do H, Lee WS, Ghosh P, Hollowell T, Canfield W, Kornfeld S (Aug 2002). "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. doi:10.1074/jbc.M202369200. PMID 12058031.

[entrez-7] "Entrez Gene: NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase".

[wang-8] 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. PMC 3220557. PMID 21956109.

[1]

References

Further reading