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NAGPA

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NAGPA
Identifiers
AliasesNAGPA, Nagpa, AI596180, UCE, APAA, N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
External IDsOMIM: 607985; MGI: 1351598; HomoloGene: 8466; GeneCards: NAGPA; OMA:NAGPA - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016256

NM_013796

RefSeq (protein)

NP_057340

NP_038824

Location (UCSC)Chr 16: 5.02 – 5.03 MbChr 16: 5.01 – 5.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000103174Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023143Ensembl, 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. ^ a b "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

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