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    GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma [ Homo sapiens (human) ]

    Gene ID: 84572, updated on 11-Jun-2021

    Summary

    Official Symbol
    GNPTGprovided by HGNC
    Official Full Name
    N-acetylglucosamine-1-phosphate transferase subunit gammaprovided by HGNC
    Primary source
    HGNC:HGNC:23026
    See related
    Ensembl:ENSG00000090581 MIM:607838
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RJD9; GNPTAG; LP2537; C16orf27
    Summary
    This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
    Expression
    Ubiquitous expression in adrenal (RPKM 53.6), kidney (RPKM 34.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See GNPTG in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1351931..1364113)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1401932..1414114)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S20 pseudogene 2 Neighboring gene BAI1 associated protein 3 Neighboring gene TSR3 ribosome maturation factor Neighboring gene unk like zinc finger Neighboring gene tight junction protein 1 pseudogene 1 Neighboring gene uncharacterized LOC101929440

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in carbohydrate phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    N-acetylglucosamine-1-phosphotransferase subunit gamma
    Names
    N-acetylglucosamine-1-phosphate transferase gamma subunit
    UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
    glcNAc-1-phosphotransferase subunit gamma

    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.

    Genomic

    1. NG_016985.1 RefSeqGene

      Range
      5033..17215
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032520.5NP_115909.1  N-acetylglucosamine-1-phosphotransferase subunit gamma precursor

      See identical proteins and their annotated locations for NP_115909.1

      Status: REVIEWED

      Source sequence(s)
      AK312067, AL031709, AY203933, BC014592, DT219524
      Consensus CDS
      CCDS10436.1
      UniProtKB/Swiss-Prot
      Q9UJJ9
      Related
      ENSP00000204679.4, ENST00000204679.9
      Conserved Domains (1) summary
      pfam07915
      Location:69129
      PRKCSH; Glucosidase II beta subunit-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      1351931..1364113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023782.1XP_016879271.1  N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X1

      Related
      ENSP00000506886.1, ENST00000683887.1
    2. XM_017023783.1XP_016879272.1  N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X2

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