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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

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