EC Number   |
General Information |
Reference |
|---|
   2.4.1.228 | physiological function |
Ceramide increases in response to chemotherapy, leading to proliferation arrest and apoptosis. A tumour stress activation of glucosylceramide synthase follows to eliminate ceramide by formation of glycosphingolipids (GSLs) such as globotriaosylceramide (Gb3), the functional receptor of verotoxin-1 |
736066 |
| 2.4.1.228 | malfunction |
deletion of A4GALT significantly increases the number of extravasated cells and more clusters are formed as compared with parental cells. The deletion of A4GALT leads to increased cell motility and invasiveness in vitro as well as in vivo, features commonly accompanied with epithelial-to-mesenchymal transition |
758994 |
| 2.4.1.228 | malfunction |
effect of GCS inhibitor DL-threo-1-phenyl-2-palmitoylamino-3-morpholino-1-propanol and multidrug resistance 1/P-glycoprotein, MDR1, pump inhibitor cyclosporin A on expression and cisplatin cytotoxicity. Enzyme inhibition potentiates cisplatin cytotoxicity in H1299 cells and abolishes cell surface globotriaosylceramide (Gb3) expression of resistant cells |
736066 |
| 2.4.1.228 | physiological function |
globotriaosylceramide, Gb3, synthesized from lactosylceramide by alpha1,4-galactosyltransferase Gb3/CD77 synthase, is a well known receptor for Shiga toxin, Stx, produced by enterohemorrhagic Escherichia coli and Shigella dysenteriae |
722691 |
| 2.4.1.228 | malfunction |
habitual abortion in a Chinese woman is caused by the synonymous 903C>G mutation in the A4GALT gene. The synonymous mutation of 903C>G in the A4GALT gene causes the p phenotype in P1Pk blood system and it is the in vivo anti-PP1Pk antibody of the patient that causes habitual abortion |
759715 |
| 2.4.1.228 | more |
overexpression of Gb3 synthase in transgenic TgG3S mice, phenotype, overview. Age-related increase in the kidney Gb3 content in TgG3S(+/-)M(+/-)/KO mice, while neither the Gb3 content in the heart nor the alpha-galactosidase A activity in the heart or kidney change during this time |
722567 |
| 2.4.1.228 | malfunction |
overexpression of the truncated form of N-methyl-D-asparate-associated protein 1, GRINA-C, and some members of the full-length TMBIM family, including FAS inhibitory molecule 2, reduces Gb3, leading to accumulation of lactosylceramide. The change of glycolipid composition is restored by overexpression of Gb3 synthase, although the mRNA level of Gb3 synthase is unchanged. GRINA-C is associated with Gb3 synthase. Reduction of only the mature form of Gb3 synthase by the expression of GRINA-C is restored by addition of lysosome inhibitors, reduction of Gb3 synthase after overexpression through increased lysosomal degenaration. Phenotypes, overview |
722691 |
| 2.4.1.228 | metabolism |
single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system |
760037 |
| 2.4.1.228 | physiological function |
the A4GALT gene encodes the alpha1-4 galactosyltransferase, a key enzyme responsible for synthesis of globoside glycosphingolipids. Globo series-related genes, and in particular, A4GALT, are elevated in epithelial cancer cells and associated with improved patient's outcome |
758994 |
| 2.4.1.228 | physiological function |
the enzyme catalyzes the synthesis of Gal(alpha1-4)Gal moiety in globotriaosylceramide (Gb3Cer, CD77, Pk blood group antigen), a glycosphingolipid of the globo series |
735618 |
