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FLASH GENE
Symbol C1GALT1 contributors: mct - updated : 14-11-2018
HGNC name core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
HGNC id 24337
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one fringe-like motif
  • a CBRT (Cosmc binding region within T-synthase) is a unique recognition motif for C1GALT1C1 to promote its regulation and formation of active T-synthase
    • conjugated GlycoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to rattus C1galt1 (89.8 pc)
    homolog to murine C1galt1 (89 pc)
    Homologene
    FAMILY
  • glycosyltransferase 31 family
  • beta3-Gal-T subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • single-pass type II membrane protein
    • basic FUNCTION
  • acting as a glycosyltransferase
  • generating the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins
  • playing a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development
  • controls the formation of mucin-type O-glycans
  • plays a role in the pathogenesis of ovarian cancer
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS development
    text
  • angiogenesis
  • kidney development
    • PATHWAY
    metabolism
    signaling
    a component
  • disulfide-linked homodimer
    • INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • Mg2+
    • protein
  • interacting with the C1GALT1C1 chaperone (required for galactosyltransferase activity)
  • C1GALT1C1 is essential for folding and normal activity of the Golgi enzyme C1GALT1
  • TGFB1 may be key in controlling the glycosylation of IgA1, in part via the downregulation of C1GalT1 and C1GALT1C1
    • cell & other
    REGULATION
    Other important role of the GC-rich sequence of CpG islands in the regulation of transcription and expression ofC1GALT1C1 and C1GALT1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    promotes breast cancer cell growth through MUC1-C signaling pathway
    Susceptibility
  • to IgA nephropathy (IGAN)
    • Variant & Polymorphism other
  • variants of C1GALT1 associated with the genetic susceptibility to IgA nephropathy
  • polymorphisms in the C1GALT1 gene were associated with genetic susceptibility to Uyghur IgAN
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerendocrinepancreas
    targeting C1GALT1 could be a promising approach for ovarian cancer therapy
    cancerreproductivebreast
    potential of C1GALT1 as a target of novel therapeutic agent development in breast cancer
    ANIMAL & CELL MODELS
  • C1galt1-deficient mice exhibit thrombocytopenia due to abnormal terminal differentiation of megakaryocytes