Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Combined Automated Annotation using Multiple IEA Methods
Cloning and expression of human core 1 beta1,3-galactosyltransferase.
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Recombinant human core 1 beta3-Gal-T expressed in 293T cells transfers galactose from UDP-Gal to GalNAc-alpha1-O-phenyl and to a Thr-linked GalNAc glycopeptide, with the product confirmed to have the core 1 structure. This is the direct assay underpinning the enzyme's molecular function annotation.
"generated core 1 beta3-Gal-T activity that transferred galactose from UDP-Gal to GalNAcalpha1-O-phenyl"
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The enzyme is a 363-residue type II transmembrane protein, and orthologues were cloned from rat, mouse, Drosophila and C. elegans, supporting broad metazoan conservation and the phylogenetic node placement behind the IBA annotation.
"Highly homologous cDNAs were identified and cloned from rat, mouse, Drosophila melanogaster, and Caenorhabditis elegans, suggesting that the enzyme is widely distributed in metazoans"
Defective angiogenesis and fatal embryonic hemorrhage in mice lacking core 1-derived O-glycans.
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T-synthase knockout mice form a disorganised brain microvasculature and die of brain haemorrhage by embryonic day 14, establishing a developmental angiogenic phenotype for loss of core 1-derived O-glycans.
"T-synthase-deficient brains formed a chaotic microvascular network with distorted capillary lumens and defective association of endothelial cells with pericytes and extracellular matrix."
Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy.
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Case-control association study of 670 IgA nephropathy patients and 494 controls genotyping five C1GALT1 SNPs; reports haplotype frequency differences indicating disease susceptibility. No angiogenesis or kidney development experiment is described.
"The present study suggested that the polymorphisms of C1GALT1 gene were associated with the genetic susceptibility to IgAN in Chinese population"
Co-translational function of Cosmc, core 1 synthase specific molecular chaperone, revealed by a cell-free translation system.
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Active C1GalT is produced in a cell-free system only when Cosmc is present during translation, establishing that C1GALT1 folding depends on co-translational engagement by its dedicated chaperone.
"These results indicate that Cosmc mediates the co-translational activation of C1GalT"
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
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States that the T-synthase encoded by C1GALT1 is the Golgi enzyme of the core 1 pathway, distinguishing its compartment from that of its ER-resident chaperone Cosmc.
"requires the action of a single Golgi enzyme T-synthase (encoded by C1GALT1)"
C1GALT1 transfers Galactose to the Tn antigen forming Core 1 glycoproteins (T antigens)
Defective C1GALT1C1 does not bind C1GALT1