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    Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit [ Mus musculus (house mouse) ]

    Gene ID: 214505, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Gnptgprovided by MGI
    Official Full Name
    N-acetylglucosamine-1-phosphotransferase, gamma subunitprovided by MGI
    Primary source
    MGI:MGI:2147006
    See related
    Ensembl:ENSMUSG00000035521 AllianceGenome:MGI:2147006
    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
    Tce7; Mdcp1; A830081F19; 6430527N14Rik
    Summary
    Enables protein homodimerization activity. Predicted to be involved in carbohydrate phosphorylation. Located in Golgi apparatus. Is expressed in several structures, including gonad; gut; hemolymphoid system gland; liver; and lung. Human ortholog(s) of this gene implicated in glycoproteinosis and mucolipidosis III gamma. Orthologous to human GNPTG (N-acetylglucosamine-1-phosphate transferase subunit gamma). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney adult (RPKM 68.2), thymus adult (RPKM 44.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 A3.3; 17 12.53 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (25451324..25459302, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (25232224..25240328, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:25321285-25321526 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 4 Neighboring gene predicted gene, 52286 Neighboring gene unkempt family like zinc finger Neighboring gene BAI1-associated protein 3 Neighboring gene TSR3 20S rRNA accumulation Neighboring gene microRNA 3547 Neighboring gene ubiquitin-conjugating enzyme E2I Neighboring gene STARR-positive B cell enhancer ABC_E8659 Neighboring gene predicted gene, 17801

    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. Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis. Sun Q, et al. Gene, 2005 Feb 28. PMID 15716021
    2. UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation. Tiede S, et al. J Invest Dermatol, 2021 Dec. PMID 34116066
    3. Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma. Westermann LM, et al. Dis Model Mech, 2020 Nov 18. PMID 33023972, Free PMC Article
    4. Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ. Idol RA, et al. PLoS One, 2014. PMID 25314316, Free PMC Article
    5. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. Schrader KA, et al. J Pathol, 2011 Sep. PMID 21792934

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.
      Title: UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.
    2. analysis of functional differences in alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase
      Title: Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (4)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate phosphorylation 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    N-acetylglucosamine-1-phosphotransferase subunit gamma
    Names
    M6PR domain-containing protein 1
    T-complex expressed 7
    UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
    glcNAc-1-phosphotransferase subunit gamma
    mannose-6-phosphate receptor domain

    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_001346737.1 → NP_001333666.1  N-acetylglucosamine-1-phosphotransferase subunit gamma isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC122454, AK078230
      Consensus CDS
      CCDS89019.1
      UniProtKB/Swiss-Prot
      Q6S5C2, Q7TNE0, Q8C5J3
      UniProtKB/TrEMBL
      A0A140T8R4
      Related
      ENSMUSP00000110807.5, ENSMUST00000115154.11

    2. NM_172529.3 → NP_766117.2  N-acetylglucosamine-1-phosphotransferase subunit gamma isoform 1 precursor

      See identical proteins and their annotated locations for NP_766117.2

      Status: VALIDATED

      Source sequence(s)
      AC122454, AC130711
      Consensus CDS
      CCDS28511.1
      UniProtKB/Swiss-Prot
      Q6S5C2, Q7TNE0, Q8C5J3
      UniProtKB/TrEMBL
      A0A0R4J0H5
      Related
      ENSMUSP00000042073.7, ENSMUST00000038973.7
      Conserved Domains (2) summary
      pfam06464
      Location:178 → 261
      DMAP_binding; DMAP1-binding Domain
      pfam07915
      Location:69 → 129
      PRKCSH; Glucosidase II beta subunit-like protein

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      25451324..25459302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317383.3 → XP_017172872.1  N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X1

      UniProtKB/Swiss-Prot
      Q6S5C2, Q7TNE0, Q8C5J3
      Conserved Domains (2) summary
      pfam06464
      Location:178 → 261
      DMAP_binding; DMAP1-binding Domain
      pfam07915
      Location:69 → 129
      PRKCSH; Glucosidase II beta subunit-like protein

    2. XM_036160463.1 → XP_036016356.1  N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X2

      Conserved Domains (1) summary
      cl06793
      Location:5 → 54
      PRKCSH; Glucosidase II beta subunit-like protein

    RNA

    1. XR_004939505.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6S5C2.1 GenPept UniProtKB/Swiss-Prot:Q6S5C2

    Gene LinkOut

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

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