NAGPA

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

AliasesNAGPA, Nagpa, AI596180, UCE, APAA, N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

External IDsOMIM: 607985; MGI: 1351598; HomoloGene: 8466; GeneCards: NAGPA; OMA:NAGPA - orthologs

Chr.Chromosome 16 (human)^[1]

End5,034,141 bp^[1]

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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)[1] Band 16p13.3 Start 5,024,844 bp[1] End 5,034,141 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 A1 Start 5,013,153 bp[2] End 5,021,876 bp[2]
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 [3] [4]
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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]