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FLASH GENE
Symbol C1GALT1 contributors: mct - updated : 03/11/2008
HGNC name core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
HGNC id 24337
Location 7p14-p13      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 10.09 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC389461 7 similar to zinc finger protein 316; kruppel-related zinc finger protein; transcription factor MZF-3 ZNF325 7p22.2 zinc finger protein 325 LOC392867 7 similar to vav-1 interacting Kruppel-like protein isoform a GPR22 7q22-q31.1 G protein-coupled receptor 22 HGF 7q21.1 hepatocyte growth factor (hepatopoietin A; scatter factor) C7orf28B 7p22.2 chromosome 7 open reading frame 28B PP35 7q22-q31 protein similar to E.coli yhdg and R. capsulatus nifR3 BCAP29 7q22-q31 B-cell receptor-associated protein 29 LOC253933 7p22.2 similar to olfactory receptor MOR145-1 C1GALT1 7p14-p13 similar to olfactory receptor MOR145-1 LOC155340 7p22.2 similar to unc-93 homolog B1; unc93 (C.elegans) homolog B; unc-93 related protein LOC392000 7 hypothetical gene supported by AK122996 SLC26A4 7q31.1 solute carrier family 26, member 4 LOC392001 7 similar to Asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) LOC346364 7p22.2 similar to hypothetical protein FLJ10661 LOC392630 7 similar to matrilin 2 precursor CBLL1 7q22.3 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 SLC26A3 7q33 solute carrier family 26, member 3 CACNA2D1 7q21.3-q22.1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 LOC340267 7p22.1 similar to Matn2-prov protein LOC346365 7p22.2 similar to vav-1 interacting Kruppel-like protein isoform a DLD 7q31-q32 dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex) LAMB1 7q22.1 laminin, beta 1 FLJ20323 7p22-p21 hypothetical protein FLJ20323 C1GALT1 7p14-p13 hypothetical protein FLJ20323 RPA3 7p22 replication protein A3, 14kDa LOC392775 7 similar to laminin beta-4 chain precursor LOC285929 7p22.1 similar to matrilin 2 precursor NRCAM 7q31.1-q31.2 neuronal cell adhesion molecule LOC389462 7 similar to Matn2-prov protein LOC392868 7 similar to cyclin B2 FLJ20323 7p22-p21 hypothetical protein FLJ20323 GLCCI1 7p22.2 glucocorticoid induced transcript 1 RPA3 7p22 replication protein A3, 14kDa ICA1 7p22 islet cell autoantigen 1, 69kDa LOC392776 7 similar to calcium-independent phospholipase A2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1955 42.1 363 - -
    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
    • conjugated GlycoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to dog C1GALT1 (93.6 pc)
    homolog to chimpanzee C1GALT1 (99.2 pc)
    homolog to cow C1GALT1 (91.1 pc)
    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
    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
    • 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)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to IgA nephropathy
    Variant & Polymorphism other variants of C1GALT1 associated with the genetic susceptibility to IgA nephropathy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS