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: 9 figures from 3 publications
Observed in: branchiostegal ray chondrocyte, branchiostegal ray, ceratohyal cartilage, chondrocyte intercalation involved in growth plate cartilage morphogenesis (all 21) expand

Phenotype of Human Orthologue OMIM Phenotype ID
Mucolipidosis II alpha/beta 252500
Mucolipidosis III alpha/beta 252600
GENE ONTOLOGY
Ontology GO Term
Biological Process chondrocyte 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: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)
    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 (20)