• Gene id: 51172

Gene Summary

• Gene Symbol: NAGPA   Gene   UCSC   Ensembl
• Aliases: APAA, UCE
• Gene name: N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
• Alternate names: N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase, alpha-N-acetylglucosaminyl phosphodiesterase, lysosomal alpha-N-acetylglucosaminidase, mannose 6-phosphate-uncovering enzyme, phosphodiester alpha-GlcNAcase,
• Gene location: 16p13.3 (5033939: 5024843)     Exons: 11     NC_000016.10
• Gene summary(Entrez): 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 hydr
• OMIM: 601723

Protein Summary

• Protein general information: Q9UK23  
  • Name: N acetylglucosamine 1 phosphodiester alpha N acetylglucosaminidase (EC 3.1.4.45) (Mannose 6 phosphate uncovering enzyme) (Phosphodiester alpha GlcNAcase)
  • Length: 515  
  • Mass: 56073
  • Tissue specificity: Isoform 2 may be brain-specific.
• Sequence:

  MATSTGRWLLLRLALFGFLWEASGGLDSGASRDDDLLLPYPRARARLPRDCTRVRAGNREHESWPPPPATPGAGG
  LAVRTFVSHFRDRAVAGHLTRAVEPLRTFSVLEPGGPGGCAARRRATVEETARAADCRVAQNGGFFRMNSGECLG
  NVVSDERRVSSSGGLQNAQFGIRRDGTLVTGYLSEEEVLDTENPFVQLLSGVVWLIRNGSIYINESQATECDETQ
  ETGSFSKFVNVISARTAIGHDRKGQLVLFHADGQTEQRGINLWEMAEFLLKQDVVNAINLDGGGSATFVLNGTLA
  SYPSDHCQDNMWRCPRQVSTVVCVHEPRCQPPDCHGHGTCVDGHCQCTGHFWRGPGCDELDCGPSNCSQHGLCTE
  TGCRCDAGWTGSNCSEECPLGWHGPGCQRPCKCEHHCPCDPKTGNCSVSRVKQCLQPPEATLRAGELSFFTRTAW
  LALTLALAFLLLISTAANLSLLLSRAERNRRLHGDYAYHPLQEMNGEPLAAEKEQPGGAHNPFKD

• Structural information:
  • Protein Domains: (358..39-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"-)
  • Interpro: IPR013032  IPR000742  IPR018711  
  • Prosite: PS00022 PS01186 PS50026
  • STRING: ENSP00000310998
• Other Databases: GeneCards:  NAGPA  Malacards:  NAGPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033299	secretion of lysosomal enzymes	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0003944	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	TAS	molecular function
GO:0006622	protein targeting to lysosome	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0006464	cellular protein modification process	TAS	biological process
GO:0007040	lysosome organization	TAS	biological process
GO:0003944	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	IEA	molecular function
GO:0033299	secretion of lysosomal enzymes	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881