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    Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [ Mus musculus (house mouse) ]

    Gene ID: 432486, updated on 31-Jan-2019

    Summary

    Official Symbol
    Gnptabprovided by MGI
    Official Full Name
    N-acetylglucosamine-1-phosphate transferase, alpha and beta subunitsprovided by MGI
    Primary source
    MGI:MGI:3643902
    See related
    Ensembl:ENSMUSG00000035311
    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
    EG432486
    Expression
    Ubiquitous expression in CNS E18 (RPKM 16.6), subcutaneous fat pad adult (RPKM 10.3) and 28 other tissues See more
    Orthologs

    Genomic context

    See Gnptab in Genome Data Viewer
    Location:
    10; 10 C1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 10 NC_000076.6 (88379232..88447330)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 10 NC_000076.5 (87842157..87910074)

    Chromosome 10 - NC_000076.6Genomic Context describing neighboring genes Neighboring gene DNA-damage regulated autophagy modulator 1 Neighboring gene predicted gene, 40734 Neighboring gene predicted gene, 40733 Neighboring gene synaptonemal complex protein 3 Neighboring gene choline phosphotransferase 1 Neighboring gene myosin binding protein C, slow-type

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    • 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...
    • dolichyl-diphosphooligosaccharide biosynthesis, organism-specific biosystem (from BIOCYC)
      dolichyl-diphosphooligosaccharide biosynthesis, organism-specific biosystem
      dolichyl-diphosphooligosaccharide biosynthesis

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1208, MGC79224

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity, transferring phosphorus-containing groups IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    N-glycan processing to lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    N-glycan processing to lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    carbohydrate phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    carbohydrate phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    carbohydrate phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    secretion of lysosomal enzymes IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    Names
    UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    glcNAc-1-phosphotransferase subunits alpha/beta
    stealth protein GNPTAB
    NP_001004164.2
    XP_006513911.1
    XP_006513912.1
    XP_006513913.1
    XP_017169515.1

    NCBI Reference Sequences (RefSeq)

    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_001004164.3NP_001004164.2  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 1

      See identical proteins and their annotated locations for NP_001004164.2

      Status: VALIDATED

      Source sequence(s)
      AK140867, AK173132
      Consensus CDS
      CCDS24110.1
      UniProtKB/Swiss-Prot
      Q69ZN6
      Related
      ENSMUSP00000020251.7, ENSMUST00000020251.9
      Conserved Domains (6) summary
      pfam00066
      Location:435469
      Notch; LNR domain
      pfam06464
      Location:699811
      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:934982
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:11171173
      Stealth_CR4; Stealth protein CR4, conserved region 4
    2. NM_001364707.1NP_001351636.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC125486, AK140867, BQ174150
      Conserved Domains (6) summary
      pfam06464
      Location:653765
      DMAP_binding; DMAP1-binding Domain
      pfam00066
      Location:390423
      Notch; LNR domain
      pfam11380
      Location:276383
      Stealth_CR2; Stealth protein CR2, conserved region 2
      pfam17101
      Location:2755
      Stealth_CR1; Stealth protein CR1, conserved region 1
      pfam17102
      Location:888936
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:10711127
      Stealth_CR4; Stealth protein CR4, conserved region 4

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000076.6 Reference GRCm38.p4 C57BL/6J

      Range
      88379232..88447330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006513848.1XP_006513911.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X1

      Conserved Domains (6) summary
      pfam00066
      Location:435469
      Notch; LNR domain
      pfam06464
      Location:699811
      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:934963
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:10561112
      Stealth_CR4; Stealth protein CR4, conserved region 4
    2. XM_006513850.2XP_006513913.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X3

      Conserved Domains (3) summary
      pfam06464
      Location:98210
      DMAP_binding; DMAP1-binding Domain
      pfam17102
      Location:333381
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:516572
      Stealth_CR4; Stealth protein CR4, conserved region 4
    3. XM_006513849.2XP_006513912.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X2

      Conserved Domains (4) summary
      pfam00066
      Location:2660
      Notch; LNR domain
      pfam06464
      Location:290402
      DMAP_binding; DMAP1-binding Domain
      pfam17102
      Location:525573
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:708764
      Stealth_CR4; Stealth protein CR4, conserved region 4
    4. XM_017314026.1XP_017169515.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X3

      Conserved Domains (3) summary
      pfam06464
      Location:98210
      DMAP_binding; DMAP1-binding Domain
      pfam17102
      Location:333381
      Stealth_CR3; Stealth protein CR3, conserved region 3
      pfam17103
      Location:516572
      Stealth_CR4; Stealth protein CR4, conserved region 4
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