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ZIRC
ZFIN ID: ZDB-GENE-030131-4714
Gene Name: N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Gene Symbol: gnptab    Nomenclature History

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Previous Names: si:ch211-234f20.3, wu:fd55d09, zgc:122985, zgc:158502

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 4 Mapping Details/Browsers
Description: Exhibits UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Involved in N-glycan processing to lysosome and skeletal system development. Predicted to localize to the Golgi membrane. Used to study inclusion-cell disease. Human ortholog(s) of this gene implicated in inclusion-cell disease and pseudo-Hurler polydystrophy. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta).
Genome Resources: Alliance (1),  Gene:553365 (1),  Ensembl(GRCz11):ENSDARG00000030153 (2)
GENE EXPRESSION
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa40269 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • stl257 Point Mutation Unknown Unknown ENU
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-gnptab N/A 5
    MO2-gnptab N/A 4
    DISEASE ASSOCIATED WITH gnptab HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    inclusion-cell disease Alliance Mucolipidosis II alpha/beta 252500
    pseudo-Hurler polydystrophy Alliance Mucolipidosis III alpha/beta 252600
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process bone development (more)
    Cellular Component Golgi membrane (more)
    Molecular Function UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (more)
    GO Terms (all 17)
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    aberrant processed transcript gnptab-202 (1)    Ensembl 2496
    mRNA gnptab-203 (1)    Ensembl 4815
    ncRNA gnptab-002 (1)    Ensembl 549
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM gnptab No data available
    MARKER RELATIONSHIPS
    gnptab Contained in: [BAC] CH211-234F20 (1) (order this), DKEY-11K24 (1) (order this)
    gnptab Encodes: [EST] fd55d09
    [cDNA] MGC:122985 (1) (order this), MGC:158502 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001044768 (1) 4633 bp
    Genomic GenBank:BX890572 (1) 166208 bp
    Select Tool
    Polypeptide UniProtKB:Q5RGJ8 (1) 1219 aa
    Sequence Clusters UniGene:7927 (1)
    Sequence Information (all 29)
    ORTHOLOGY for gnptab ( Chr: 4 )
    CITATIONS (32)