ZFIN ID: ZDB-GENE-030131-4714
Gene Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Gene Symbol: gnptab
Previous Names: si:ch211-234f20.3, wu:fd55d09, zgc:122985, zgc:158502
Location: Chr: 4   Details
Nomenclature History
GENE EXPRESSION
Curated Microarray Expression: GEO (1)
MUTANTS AND TARGETED KNOCKDOWNS
Knockdown reagents: MO1-gnptab (1), MO2-gnptab (1)
PHENOTYPE
Data: 10 figures from 4 publications
Observed in: branchiostegal ray chondrocyte, branchiostegal ray, ceratohyal cartilage, chondrocyte intercalation involved in growth plate cartilage morphogenesis (all 22) expand
DISEASE ASSOCIATED WITH gnptab HUMAN ORTHOLOG
Disease Ontology Term OMIM Term OMIM Phenotype ID
Mucolipidosis II alpha/beta 252500
Mucolipidosis III alpha/beta 252600
GENE ONTOLOGY
Ontology GO Term
Biological Process N-glycan processing to lysosome (more)
Cellular Component Golgi membrane (more)
Molecular Function UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (more)
GO Terms (all 19)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000800 (1)
  • InterPro:IPR002048 (1)
  • InterPro:IPR010506 (1)
  • InterPro:IPR018247 (1)
  • InterPro:IPR021520 (1)
  • PROSITE:PS00018 (1)
  • PROSITE:PS50222 (1)
  • PROSITE:PS50258 (1)
  • Pfam:PF00066 (1)
  • Pfam:PF06464 (1)
  • Pfam:PF11380 (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
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM gnptab No data available
    SEGMENT (CLONE AND PROBE) 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:G1K2J8 (1) 1222 aa
    Sequence Clusters UniGene:7927 (1)
    Sequence Information (all 29)
    OTHER gnptab GENE PAGES
  • Gene:553365 (1)
  • VEGA:OTTDARG00000008286 (1)
  • Ensembl(Zv9):ENSDARG00000030153 (1)
  • ORTHOLOGY
      Evidence
    Species Symbol Chr (Position) Accession # AA CL
    Zebrafish gnptab 4  
    Human GNPTAB 12 (12q23.2)
  • OMIM:607840
  • Gene:79158
  • Mouse Gnptab 10 ( 43.86 cM)
  • MGI:3643902
  • Gene:432486
  • Orthology Details
    CITATIONS (22)