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    Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [ Mus musculus (house mouse) ]

    Gene ID: 432486, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gnptabprovided by MGI
    Official Full Name
    N-acetylglucosamine-1-phosphate transferase, alpha and beta subunitsprovided by MGI
    Primary source
    MGI:MGI:3643902
    See related
    Ensembl:ENSMUSG00000035311 AllianceGenome:MGI:3643902
    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
    EG432486
    Summary
    Predicted to enable UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Acts upstream of or within carbohydrate phosphorylation; establishment of localization in cell; and secretion of lysosomal enzymes. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Used to study mucolipidosis II alpha/beta. Human ortholog(s) of this gene implicated in mucolipidosis II alpha/beta and mucolipidosis III alpha/beta. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 16.6), subcutaneous fat pad adult (RPKM 10.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gnptab in Genome Data Viewer
    Location:
    10 C1; 10 43.86 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (88215130..88283186)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (88379134..88447324)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene DNA-damage regulated autophagy modulator 1 Neighboring gene predicted gene, 51779 Neighboring gene STARR-positive B cell enhancer ABC_E2332 Neighboring gene STARR-positive B cell enhancer ABC_E11453 Neighboring gene predicted gene, 40733 Neighboring gene STARR-positive B cell enhancer ABC_E5162 Neighboring gene STARR-positive B cell enhancer mm9_chr10:87872706-87873007 Neighboring gene STARR-positive B cell enhancer ABC_E2333 Neighboring gene STARR-positive B cell enhancer ABC_E3906 Neighboring gene synaptonemal complex protein 3 Neighboring gene choline phosphotransferase 1 Neighboring gene STARR-seq mESC enhancer starr_27496 Neighboring gene myosin binding protein C, slow-type Neighboring gene STARR-seq mESC enhancer starr_27498 Neighboring gene STARR-positive B cell enhancer ABC_E6897

    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. Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development. Koehne T, et al. Biochim Biophys Acta, 2016 Sep. PMID 27239697
    2. Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. Kollmann K, et al. Brain, 2012 Sep. PMID 22961545, Free PMC Article
    3. Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II. Kollmann K, et al. EMBO Mol Med, 2013 Dec. PMID 24127423, Free PMC Article
    4. Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions. Otomo T, et al. J Cell Biol, 2015 Jan 19. PMID 25601403, Free PMC Article
    5. Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes. Boonen M, et al. Mol Biol Cell, 2011 Apr 15. PMID 21325625, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene.
      Title: A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.
    2. The DMAP interaction domain of the alpha subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.
      Title: The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.
    3. Retinal degeneration with storage disease phenotype in most exocrine glands in Gnptab null mice
      Title: Comparative pathology of murine mucolipidosis types II and IIIC.
    4. Vacuolization of mucolipidosis type II mouse exocrine gland cells (GlcNAc-1-phosphotransferase-deficient mice) represents accumulation of autolysosomes.
      Title: Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1208, MGC79224

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in N-glycan processing to lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in N-glycan processing to lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in N-glycan processing to lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within carbohydrate phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in carbohydrate phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within establishment of localization in cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lysosome organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within secretion of lysosomal enzymes IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    Names
    UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    glcNAc-1-phosphotransferase subunits alpha/beta
    stealth protein GNPTAB
    NP_001004164.2
    NP_001351636.1
    NP_001408246.1
    NP_001408247.1
    NP_001408248.1
    XP_006513912.1
    XP_017169515.1

    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_001004164.3 → NP_001004164.2  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 1

      See identical proteins and their annotated locations for NP_001004164.2

      Status: VALIDATED

      Source sequence(s)
      AK140867, AK173132
      Consensus CDS
      CCDS24110.1
      UniProtKB/Swiss-Prot
      Q3U3K6, Q3US34, Q69ZN6
      Related
      ENSMUSP00000020251.8, ENSMUST00000020251.10
      Conserved Domains (6) summary
      pfam00066
      Location:435 → 469
      Notch; LNR domain
      pfam06464
      Location:699 → 811
      DMAP_binding; DMAP1-binding Domain
      pfam11380
      Location:322 → 429
      Stealth_CR2; Stealth protein CR2, conserved region 2
      pfam17101
      Location:73 → 101
      Stealth_CR1; Stealth protein CR1, conserved region 1
      pfam17102
      Location:934 → 982
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:1117 → 1173
      Stealth_CR4; Stealth protein CR4, conserved region 4

    2. NM_001364707.2 → NP_001351636.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC125486
      Conserved Domains (6) summary
      pfam06464
      Location:653 → 765
      DMAP_binding; DMAP1-binding Domain
      pfam00066
      Location:390 → 423
      Notch; LNR domain
      pfam11380
      Location:276 → 383
      Stealth_CR2; Stealth protein CR2, conserved region 2
      pfam17101
      Location:27 → 55
      Stealth_CR1; Stealth protein CR1, conserved region 1
      pfam17102
      Location:888 → 936
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:1071 → 1127
      Stealth_CR4; Stealth protein CR4, conserved region 4

    3. NM_001421317.1 → NP_001408246.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC125486

    4. NM_001421318.1 → NP_001408247.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC125486

    5. NM_001421319.1 → NP_001408248.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC125486

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      88215130..88283186
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006513849.3 → XP_006513912.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X2

      Conserved Domains (4) summary
      pfam00066
      Location:27 → 60
      Notch; LNR domain
      pfam06464
      Location:290 → 402
      DMAP_binding; DMAP1-binding Domain
      pfam17102
      Location:525 → 573
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:708 → 764
      Stealth_CR4; Stealth protein CR4, conserved region 4

    2. XM_017314026.2 → XP_017169515.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X3

      Conserved Domains (3) summary
      pfam06464
      Location:98 → 210
      DMAP_binding; DMAP1-binding Domain
      pfam17102
      Location:333 → 381
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:516 → 572
      Stealth_CR4; Stealth protein CR4, conserved region 4
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q69ZN6.2 GenPept UniProtKB/Swiss-Prot:Q69ZN6

    Gene LinkOut

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

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