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

    Gene ID: 79158, updated on 11-Jun-2021

    Summary

    Official Symbol
    GNPTABprovided by HGNC
    Official Full Name
    N-acetylglucosamine-1-phosphate transferase subunits alpha and betaprovided by HGNC
    Primary source
    HGNC:HGNC:29670
    See related
    Ensembl:ENSG00000111670 MIM:607840
    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]
    Expression
    Ubiquitous expression in colon (RPKM 16.4), lung (RPKM 13.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GNPTAB in Genome Data Viewer
    Location:
    12q23.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (101745499..101830959, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (102139277..102224737, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene choline phosphotransferase 1 Neighboring gene RNY1 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 CRISPRi-validated cis-regulatory element chr12.3152

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC4170, KIAA1208, DKFZp762B226

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in N-glycan processing to lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in N-glycan processing to lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in carbohydrate phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in carbohydrate phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in secretion of lysosomal enzymes IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    Names
    GlcNAc phosphotransferase
    N-acetylglucosamine-1-phosphate transferase alpha and beta subunits
    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
    XP_006719656.1
    XP_011537033.1
    XP_016875450.1
    XP_016875451.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4909..90369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024312.5NP_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)
      AC063950, AM085438, BP276948
      Consensus CDS
      CCDS9088.1
      UniProtKB/Swiss-Prot
      Q3T906
      Related
      ENSP00000299314.7, ENST00000299314.12
      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 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_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      101745499..101830959 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. XM_017019962.2XP_016875451.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X4

    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_006719593.3XP_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
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