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    Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [ Mus musculus (house mouse) ]

    Gene ID: 27426, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Nagpaprovided by MGI
    Official Full Name
    N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidaseprovided by MGI
    Primary source
    MGI:MGI:1351598
    See related
    Ensembl:ENSMUSG00000023143 AllianceGenome:MGI:1351598
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    UCE
    Summary
    Predicted to enable N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity. Acts upstream of or within secretion of lysosomal enzymes. Predicted to be located in Golgi apparatus and membrane. Predicted to be integral component of membrane. Is expressed in thymus primordium. Orthologous to human NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 27.5), ovary adult (RPKM 22.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    16 A1; 16 2.51 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (5013144..5024891, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (5195280..5204032, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 126A pseudogene Neighboring gene periplakin Neighboring gene SEC14-like lipid binding 5 Neighboring gene expressed sequence AU021092 Neighboring gene microRNA 6364 Neighboring gene STARR-positive B cell enhancer mm9_chr16:5233472-5233773 Neighboring gene ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Neighboring gene eukaryotic elongation factor 2 lysine methyltransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Toxic effects of hyperglycemia are mediated by the hexosamine signaling pathway and o-linked glycosylation in early mouse embryos. Pantaleon M, et al. Biol Reprod, 2010 Apr. PMID 20032283, Free PMC Article
    2. Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. Kornfeld R, et al. J Biol Chem, 1999 Nov 12. PMID 10551838
    3. Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity. Boonen M, et al. Mol Biol Cell, 2009 Oct. PMID 19710420, Free PMC Article
    4. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UCE -/- mice were viable, grew normally & lacked detectable histologic abnormalities, but plasma levels of 6 acid hydrolases were elevated. UCE accounts for all the uncovering activity in the Golgi.
      Title: Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in secretion of lysosomal enzymes IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within secretion of lysosomal enzymes IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
    Names
    alpha-GlcNAcase
    mannose 6-phosphate-uncovering enzyme
    phosphodiester alpha-GlcNAcase
    NP_038824.2
    XP_006522279.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_013796.3 → NP_038824.2  N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase precursor

      See identical proteins and their annotated locations for NP_038824.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the functional protein.
      Source sequence(s)
      AC124576, AK032158, AK138035
      Consensus CDS
      CCDS27933.1
      UniProtKB/Swiss-Prot
      Q3UUT5, Q8BJ48, Q8CHQ8, Q9QZE6
      UniProtKB/TrEMBL
      Q3TWM3
      Related
      ENSMUSP00000023911.5, ENSMUST00000023911.11
      Conserved Domains (1) summary
      pfam09992
      Location:131 → 326
      DUF2233; Predicted periplasmic protein (DUF2233)

    RNA

    1. NR_027804.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate internal segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC124576, AK087468, AK138035, AK168830
      Related
      ENSMUST00000147567.2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      5013144..5024891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006522216.5 → XP_006522279.1  N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase isoform X1

      UniProtKB/TrEMBL
      Q3TWM3
      Conserved Domains (1) summary
      pfam09992
      Location:131 → 326
      NAGPA; Phosphodiester glycosidase
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BJ48.2 GenPept UniProtKB/Swiss-Prot:Q8BJ48

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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