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    Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362865, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Gnptabprovided by RGD
    Official Full Name
    N-acetylglucosamine-1-phosphate transferase subunits alpha and betaprovided by RGD
    Primary source
    RGD:1564821
    See related
    EnsemblRapid:ENSRNOG00000005228 AllianceGenome:RGD:1564821
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1564821
    Summary
    Predicted to enable UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Predicted to be involved in N-glycan processing to lysosome and lysosome organization. Predicted to act 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. 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, Dec 2024]
    Expression
    Biased expression in Lung (RPKM 144.9), Kidney (RPKM 118.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Gnptab in Genome Data Viewer
    Location:
    7q13
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 7 NC_086025.1 (24687923..24754821)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 7 NC_051342.1 (22800502..22866336)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 7 NC_005106.4 (28956363..29023232)

    Chromosome 7 - NC_086025.1Genomic Context describing neighboring genes Neighboring gene proline-rich basic protein 1, pseudogene 1 Neighboring gene DNA-damage regulated autophagy modulator 1 Neighboring gene choline phosphotransferase 1 Neighboring gene synaptonemal complex protein 3 Neighboring gene uncharacterized LOC102554140

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site. Velho RV, et al. Hum Mol Genet, 2015 Jun 15. PMID 25788519, Free PMC Article
    2. Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB). De Pace R, et al. Hum Mutat, 2014 Mar. PMID 24375680
    3. Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. Zarghooni M, et al. Am J Med Genet A, 2009 Dec. PMID 19938078
    4. Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases. Lee WS, et al. J Biol Chem, 2007 Sep 14. PMID 17652091
    5. Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition. Qian Y, et al. J Biol Chem, 2015 Jan 30. PMID 25505245, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    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 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
    		  
    acts_upstream_of_or_within carbohydrate phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in carbohydrate phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within establishment of localization in cell ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lysosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein secretion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within secretion of lysosomal enzymes ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    Names
    N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
    NP_001414087.1
    XP_017450686.2
    XP_038936007.1

    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_001427158.1 → NP_001414087.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000007
      UniProtKB/TrEMBL
      D3ZKE0
      Related
      ENSRNOP00000006946.4, ENSRNOT00000006946.9

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086025.1 Reference GRCr8

      Range
      24687923..24754821
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017595197.3 → XP_017450686.2  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X1

      Related
      ENSRNOP00000104098.1, ENSRNOT00000131957.1

    2. XM_039080079.2 → XP_038936007.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X2

      Conserved Domains (3) summary
      pfam06464
      Location:98 → 204
      DMAP_binding; DMAP1-binding Domain
      pfam17102
      Location:326 → 374
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:509 → 565
      Stealth_CR4; Stealth protein CR4, conserved region 4
    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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