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FLASH GENE
Symbol C1GALT1C1 contributors: mct - updated : 22-02-2010
HGNC name C1GALT1-specific chaperone 1
HGNC id 24338
Location Xq24      Physical location : 119.759.535 - 119.764.005
Synonym name
  • core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 2
  • core 1 beta3-galactosyltransferase-specific molecular chaperone
  • C38H2-like protein 1
  • core 1 beta3-Gal-T2
  • Synonym symbol(s) COSMC, HSPC067, C1Gal-T2, MGC19947, c38h2-l1, C1GALT2, MST143
    EC.number 2.4.1.122
    DNA
    TYPE functioning gene
    STRUCTURE 4.41 kb     3 Exon(s)
    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
    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     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with C1GALT1
  • cell & other
    REGULATION
    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)
    Susceptibility
    Variant & Polymorphism
  • polymorphism of C1GALT1C1 gene is associated with the genetic susceptibility to IgA nephropathy
  • Candidate gene
  • expression of the disease-related Tn antigen can result from deregulation or loss of C1GALT1C1 function
  • Marker
    Therapy target
    ANIMAL & CELL MODELS