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    GNPTAB N-acetylglucosamine-1-phosphate transferase alpha and beta subunits [ Homo sapiens (human) ]

    Gene ID: 79158, updated on 12-Mar-2017
    Official Symbol
    GNPTABprovided by HGNC
    Official Full Name
    N-acetylglucosamine-1-phosphate transferase alpha and beta subunitsprovided by HGNC
    Primary source
    HGNC:HGNC:29670
    See related
    Ensembl:ENSG00000111670 MIM:607840; Vega:OTTHUMG00000170444
    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
    ICD; GNPTA
    Summary
    This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
    Orthologs
    Location:
    12q23.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (101745497..101830867, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (102139275..102224645, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene choline phosphotransferase 1 Neighboring gene RNA, Ro-associated Y1 pseudogene 16 Neighboring gene synaptonemal complex protein 3 Neighboring gene RNA, U6 small nuclear 101, pseudogene Neighboring gene ST13, Hsp70 interacting protein pseudogene 22 Neighboring gene RNA, 5S ribosomal pseudogene 368 Neighboring gene RNA, U6 small nuclear 172, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 369 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC4170, KIAA1208, DKFZp762B226

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    N-glycan processing to lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    carbohydrate phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    secretion of lysosomal enzymes IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    Names
    GlcNAc phosphotransferase
    UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine
    glcNAc-1-phosphotransferase subunits alpha/beta
    glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase
    stealth protein GNPTAB
    NP_077288.2

    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_021243.1 RefSeqGene

      Range
      5001..90371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024312.4NP_077288.2  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta precursor

      See identical proteins and their annotated locations for NP_077288.2

      Status: REVIEWED

      Source sequence(s)
      AM085438, BP276948, BU754017
      Consensus CDS
      CCDS9088.1
      UniProtKB/Swiss-Prot
      Q3T906
      Related
      ENSP00000299314, OTTHUMP00000243820, ENST00000299314, OTTHUMT00000409182
      Conserved Domains (6) summary
      pfam00066
      Location:435469
      Notch; LNR domain
      pfam06464
      Location:699814
      DMAP_binding; DMAP1-binding Domain
      pfam11380
      Location:322429
      Stealth_CR2; Stealth protein CR2, conserved region 2
      pfam17101
      Location:73101
      Stealth_CR1; Stealth protein CR1, conserved region 1
      pfam17102
      Location:9551003
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:11381194
      Stealth_CR4; Stealth protein CR4, conserved region 4

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      101745497..101830867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019962.1XP_016875451.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X4

    2. XM_017019961.1XP_016875450.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X2

    3. XM_011538731.2XP_011537033.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X1

      Conserved Domains (6) summary
      pfam00066
      Location:408442
      Notch; LNR domain
      pfam06464
      Location:672787
      DMAP_binding; DMAP1-binding Domain
      pfam11380
      Location:295402
      Stealth_CR2; Stealth protein CR2, conserved region 2
      pfam17101
      Location:4674
      Stealth_CR1; Stealth protein CR1, conserved region 1
      pfam17102
      Location:928976
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:11111167
      Stealth_CR4; Stealth protein CR4, conserved region 4
    4. XM_006719593.2XP_006719656.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X3

      Conserved Domains (5) summary
      pfam00066
      Location:435469
      Notch; LNR domain
      pfam06464
      Location:699814
      DMAP_binding; DMAP1-binding Domain
      pfam11380
      Location:322429
      Stealth_CR2; Stealth protein CR2, conserved region 2
      pfam17101
      Location:73101
      Stealth_CR1; Stealth protein CR1, conserved region 1
      pfam17102
      Location:9551003
      Stealth_CR3; Stealth protein CR3, conserved region 3

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      102105957..102191339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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