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FLASH GENE
Symbol C1GALT1C1 contributors: mct - updated : 14-11-2018
HGNC name C1GALT1-specific chaperone 1
HGNC id 24338
DNA
TYPE functioning gene
STRUCTURE 4.41 kb     3 Exon(s)
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 provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1743 36.2 318 - 2008 18695044
    3 - 1915 36.2 318 - 2008 18695044
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     salivary gland   highly
     stomach   highly
    Lymphoid/Immunethymus    
    Nervousbrainhindbraincerebellum  
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text umbilical cord blood
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a structured N-terminal domain (Cosmc delta256), mediating T-synthase binding and chaperone function,
  • has a unique ER-retention motif within its transmembrane domain (TMD), providing new insights into the molecular mechanisms by which TMDs of resident ER proteins contribute to ER localization
  • a C-terminal domain necessary for oligomerization and metal binding
  • HOMOLOGY
    interspecies homolog to murine C1galt1c1 (93.7pc)
    homolog to rattus C1galt1c1 (93.4pc)
    Homologene
    FAMILY
  • glycosyltransferase 31 family
  • Beta3-Gal-T subfamily
  • CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text type II transmembrane protein
    basic FUNCTION
  • playing an important role in synthesizing O-glycans in digestive organs
  • required for the proper folding and hence full activity of C1GALT1
  • molecular chaperone, required for the functioning of T-synthase (beta 1,3-galactosyltransferase), a glycosyltransferase essential for the correct biosynthesis of O-glycans
  • promotes folding of C1GALT1
  • controls the intracellula dynamics of C1GALT1 in association with core 1 synthase activity
  • first ER chaperone identified to be required for folding of a glycosyltransferase
  • may play a key role in the regulation of IgA1 O-glycosylation and in in IgA nephropathy
  • molecular chaperone thought to be required for expression of active T-synthase, the only enzyme that galactosylates the Tn antigen (GalNAcalpha1-Ser/Thr-R) to form core 1 Galbeta1-3GalNAcalpha1-Ser/Thr (T antigen) during mucin type O-glycan biosynthesis
  • plays a crucial role in blood vessel formation and is characterized as a molecular chaperone of C1GALT1 which catalyzes the synthesis of T antigen
  • is a novel regulator for KDR signaling in endothelial cells and dysregulation of C1GALT1C1 expression may contribute to the pathogenesis of hemangioma
  • C1GALT1 and its molecular chaperone C1GALT1C1 regulate the biosynthesis of mucin type O-glycans on glycoproteins
  • is essential for the synthesis of the core 1 structure of mucin-type O-glycans
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with C1GALT1
  • essential for folding and normal activity of the Golgi enzyme C1GALT1
  • C1GALT1C1 was able to regulate VEGF-triggered phosphorylation of KDR
  • TNF was shown to down-regulate the C1GALT1C1 gene as evidenced by reduced levels of the C1GALT1C1 mRNA and protein, as well as hypermethylation of the CpG islands of the C1GALT1C1 gene promoter
  • TGFB1 may be key in controlling the glycosylation of IgA1, in part via the downregulation of C1GalT1 and C1GALT1C1
  • C1GALT1C1 is required for TIMD4-dependent normal efferocytosis and may contribute to the stable expression of the TIMD4 glycoprotein
  • 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
    constitutional somatic mutation      
    in Tn syndrome (autoimmune disease with blood cells carrying an incompletely glycosylated membrane glycoprotein) (OMIM: 300622)
    constitutional        
    truncated protein in human colorectal cell line and in Jurkat cells
    constitutional somatic mutation      
    abolishing function of a glycosyltransferase, disrupting O-glycan core 1 synthesis and creating a tumor-specific glycopeptidic neoepitope consisting of a monosaccharide and a specific wildtype protein sequence
    constitutional     --low  
    implicated in the IGAN pathogenesis (but minor role)
    constitutional     --low  
    in pediatric IgA nephropathy (IGAN), hypermethylation of C1GALT1C1 promoter region could be a key mechanism for the reduction of Cosmc mRNA expression in IgAN lymphocytes with associated increase in aberrantly glycosylated IgA1
    Susceptibility
  • to IgA nephropathy
  • to inflammatory bowel disease (IBD)
  • Variant & Polymorphism
  • polymorphism of C1GALT1C1 gene is associated with the genetic susceptibility to IgA nephropathy
  • is an IBD risk factor implicated in regulating the spatial pattern of dysbiosis and sex bias in IBD
  • Candidate gene
  • expression of the disease-related Tn antigen can result from deregulation or loss of C1GALT1C1 function
  • Marker
    Therapy target
    ANIMAL & CELL MODELS