EC Number   |
General Information |
Reference |
|---|
    2.4.1.122 | malfunction |
abrogation of the enzyme promotes membrane protein internalization. Disruption of core 1 O-glycosyltransferase activity induces endocytosis and faster accumulation of cell surface proteins in cytoplasmic vesicles and induces clathrin-mediated endocytosis. Enzyme-deficient human corneal keratinocytes display plasma membrane invaginations on the apical surface |
723563 |
| 2.4.1.122 | malfunction |
C1GALT1 overexpression enhances HNSCC cell viability, migration, and invasion, which can be reversed by erlotinib. Silencing of C1GALT1 suppresses the malignant behavior both in vitro and in vivo. C1GALT1 knockdown decreases the EGFR signaling in SAS, OEC-M1, and FaDu cells. Decreased C1GALT1 causes accumulation of Tn antigens |
759356 |
| 2.4.1.122 | malfunction |
C1GalTA null mutant is lethal, mutant animals exhibit a striking morphogenetic defect in which the ventral nerve cord is greatly elongated and the brain hemispheres are misshapen |
703369 |
| 2.4.1.122 | malfunction |
core 1 beta1,3-galactosyltransferase (C1GALT1) expression is upregulated in HNSCC tumors and is associated with adverse clinicopathologic features. Moreover, high C1GALT1 expression predicts poor disease-free and overall survivals. C1GALT1 overexpression enhances HNSCC cell viability, migration, and invasion, which can be reversed by erlotinib. Silencing of C1GALT1 suppresses the malignant behavior both in vitro and in vivo. Blocking O-glycan elongation on epidermal growth factor receptor (EGFR) by C1GALT1 knockdown decreases EGF-EGFR binding affinity and inhibits EGFR signaling, thereby suppressing malignant phenotypes. C1GALT1 knockout also decreases the EGFR signaling in SAS cells as shown in two independent clones. C1GALT1 overexpression in SAS cells increases EGF-induced phosphorylation of EGFR at Y1068. By contrast, C1GALT1 knockdown decreases the EGFR signaling in OEC-M1 and FaDu cells. Decreased C1GALT1 causes accumulation of Tn antigens, which is detected by vicia villosa agglutinin (VVA) lectin |
759872 |
| 2.4.1.122 | malfunction |
dC1GalT1 loss in larvae leads to various defects, including a decreased number of circulating hemocytes, hyperdifferentiation of hematopoietic stem cells in lymph glands, malformation of the central nervous system, mislocalization of neuromuscular junction (NMJ) boutons, and ultrastructural abnormalities in NMJs and muscle cells. Mutant larvae show lower expression of glucuronylated T antigen on the muscles and at NMJs. Mislocalization of neuromuscular junction (NMJ) boutons and a partial loss of the basement membrane components collagen IV (Col IV) and nidogen (Ndg) at the muscle 6/7 boundary are observed. Those two phenotypes are correlated and identical to previously described phenotypes in dC1GalT1 mutant larvae |
759109 |
| 2.4.1.122 | malfunction |
mutant embryos show the loss of T antigens on the CNS and on a subset of hemocytes, 2 mutant lines, EY13370 and KG02976, have a P-element insertion in the CG9520 gene region, although the P-elements are located in the first intron of the gene in both lines, KG02976 homozygotes develop normally whereas some EY13370 homozygotes die during development and escaper homozygous EY13370 adult flies have abnormal legs, the levels of the enzyme transcripts in mutant third instar larvae homozygous for KG02976 or EY13370 are reduced to 60% and 15% of that of wild-type third instar larvae, terminal galactose of T antigen is defective in mutant embryos |
703884 |
| 2.4.1.122 | malfunction |
mutations in the chaperone Cosmc, which is encoded by the X-chromosome gene (Xq24) in humans, leads to loss of T-synthase activity and expression of the abnormal Tn (GalNAc1-Ser/Thr) and Sialyl Tn (NeuAc2-3GalNAc1-Ser/Thr) antigens, which are also known as tumor-associated carbohydrate antigens, Tn syndrome is a rare autoimmune disease in which subpopulations of blood cells in all lineages carry an incompletely glycosylated membrane |
704683 |
| 2.4.1.122 | malfunction |
oocyte-specific deletion at the primary follicle stage of T-synthase leads to a sustained increase in fertility mutant females ovulated 30-50% more eggs and has a sustained increase in litter size compared to controls, ovarian weights and follicle numbers are greater in mutants, but follicular apoptosis is not decreased, the number of follicles entering the growing pool is unaltered, but 3-week mutants ovulate fewer eggs, suggesting that increased fertility results from prolonged follicle development, T-synthase mutant ovaries also contain numerous multiple-oocyte follicles that appeared to form by adjacent, predominantly preantral, follicles joining |
703610 |
| 2.4.1.122 | malfunction |
the double mutant (DM) mouse generates oocytes lacking complex N- and O-glycans due to oocyte-specific deletion of core 1 beta1,3-galactosyltransferase (C1galt1) and N-acetylglucosaminyltransferase I (Mgat1) and has modified cumulus expansion. Oocyte-specific ablation of C1galt1 and Mgat1 may affect bone morphogenetic protein 15 synthesis or bioactivity, thereby reducing SMAD1/5/8 phosphorylation and hyaluronan production. The genotype of the DM mouse is oocyte-specific. Cumulus-oocyte complexes (COCs) from mice with oocyte-specific deletions of C1galt1 and Mgat1 have abnormal cumulus matrix that is resistant to hyaluronidase treatment |
760113 |
| 2.4.1.122 | metabolism |
dGlcAT-P (EC 2.4.1.135) genetically interactes with dC1GalT1, and glucuronylated T antigen, rather than unmodified T antigen, contributes to precise localization of NMJ boutons and normal formation of basement membranes on muscles 6/7 |
759109 |
