Misplaced Pages

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) Band 16p13.3 Start 5,024,844 bp End 5,034,141 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 A1 Start 5,013,153 bp End 5,021,876 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 51172 27426 Ensembl ENSG00000103174 ENSMUSG00000023143 UniProt Q9UK23 Q8BJ48 RefSeq (mRNA) NM_016256 NM_013796 RefSeq (protein) NP_057340 NP_038824 Location (UCSC) Chr 16: 5.02 – 5.03 Mb Chr 16: 5.01 – 5.02 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase is an enzyme that in humans is encoded by the NAGPA gene.

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).

References

1. ^ GRCh38: Ensembl release 89: ENSG00000103174 – Ensembl, May 2017
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.
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.
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.
7. ^ "Entrez Gene: NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase".
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.

Further reading

• 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 Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 16
• Human proteins
• Human chromosome 16 gene stubs