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

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]

^ ^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.

[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.

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