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

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

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(Including Attributions)
Location: Chr: 4 Mapping Details/Browsers
Nomenclature History
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
Targeting reagents: MO1-gnptab (1), MO2-gnptab (1)
PHENOTYPE
Data: 16 figures from 5 publications
Observed in: branchiostegal ray chondrocyte, branchiostegal ray, ceratohyal cartilage chondrocyte, ceratohyal cartilage (all 44) expand
DISEASE ASSOCIATED WITH gnptab HUMAN ORTHOLOG
Disease Ontology Term OMIM Term OMIM Phenotype ID
inclusion-cell disease Mucolipidosis II alpha/beta 252500
pseudo-Hurler polydystrophy 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)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000800 (1)
  • InterPro:IPR002048 (1)
  • InterPro:IPR010506 (1)
  • InterPro:IPR011992 (1)
  • InterPro:IPR018247 (1)
  • InterPro:IPR021520 (1)
  • InterPro:IPR031356 (1)
  • InterPro:IPR031357 (1)
  • InterPro:IPR031358 (1)
  • PROSITE:PS00018 (1)
  • PROSITE:PS50222 (1)
  • PROSITE:PS50258 (1)
  • Pfam:PF00066 (1)
  • Pfam:PF06464 (1)
  • Pfam:PF11380 (1)
  • Pfam:PF17101 (1)
  • Pfam:PF17102 (1)
  • Pfam:PF17103 (1)
  • EC:2.7.8.17 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA gnptab-001 (1) 4815
    ncRNA gnptab-002 (1) 549
    gnptab-003 (1) 1849
    aberrant processed transcript gnptab-004 (1) 2496
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYSNo data available
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM gnptab No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    gnptabContained in: [BAC] CH211-234F20 (1) (order this), DKEY-11K24 (1) (order this)
    gnptabEncodes: [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) 4633bp
    Genomic GenBank:BX890572 (1) 166208bp
    Select Tool
    Polypeptide UniProtKB:G1K2J8 (1) 1220aa
    Sequence Clusters UniGene:7927 (1)
    Sequence Information (all 28)
    OTHER gnptab GENE PAGES
  • Gene:553365 (1)
  • VEGA:OTTDARG00000008286 (1)
  • Ensembl(GRCz10):ENSDARG00000030153 (1)
  • ORTHOLOGY for gnptab (Chr: 4)
    Species Symbol Chromosome Accession # Evidence
    Human GNPTAB 12
  • Gene:79158
  • OMIM:607840
  • HGNC:29670
  • Amino acid sequence comparison (1)
    Conserved genome location (synteny) (2)
    Mouse Gnptab 10
  • MGI:3643902
  • Gene:432486
  • Amino acid sequence comparison (2)
    Conserved genome location (synteny) (1)
    Download Curated Orthology
    CITATIONS (25)