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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
Location 7p22.1      Physical location : 7.222.245 - 7.288.251
Synonym name
  • core 1 beta3-Gal-T
  • core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase
  • Synonym symbol(s) C1GALT, T-synthase, T-syn
    EC.number 2.4.1.122
    DNA
    TYPE functioning gene
    STRUCTURE 66.10 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • CpG islands at 5prime-flanking regions of C1GALT1C1 and C1GALT1 each containing two SP1/3-binding sites are the gene promoters
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 6244 42.1 363 - 2008 18061573
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Respiratorylung    
     respiratory tracttrachea  predominantly
     respiratory tractlarynx  moderately
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  moderately
    Connectivebone  highly
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, eye
    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)
  • potential genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation
  • 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