Recombinant Human Lactosylceramide alpha-2,3-sialyltransferase (ST3GAL5), partial

1. While no differences in clinical characteristics were detected in patients possessing the functional promoter haplotypes of ST3GAL5, exophthalmic values were significantly lower in patients with the ST8SIA1 haplotype, which showed a significant increase in promoter activity PMID: 29047240
2. These cases broaden the phenotypic and genetic spectrum of GM3 synthase deficiency due to ST3GAL5 variants. Patients with intellectual disability or furthermore presenting with Rett-like phenotype should be suspected of GM3 synthase deficiency, a disorder of ganglioside biosynthesis. PMID: 27232954
3. Data suggest that ganglioside glycosyltransferases ST3GAL5, ST8SIA1, and B4GALNT1 are S-acylated at conserved cysteine residues located close to cytoplasmic border of their transmembrane domains; ST3Gal-II is acylated at conserved cysteine residue in N-terminal cytoplasmic tail; for B4GALNT1 and ST3Gal-II, dimer formation controls their S-acylation status. PMID: 28698248
4. Studied the miRNA expression in human hepatocellular carcinoma cell lines; 13 differentially expressed miRNAs were identified between MHCC97-H and MHCC97-L cells; and the same results were found in clinical samples. Found that ST3GAL5 was the direct target of miR-26a, miR-548l and miR-34a. PMID: 28218742
5. Serum deprivation triggers upregulation of hST3Gal V gene expression through Runx2 activation by BMP signaling in MG-63 cells. PMID: 26729095
6. Whole-exome sequencing of patients with salt and pepper syndrome shows a homozygous c.994G>A transition (p.E332K) in the ST3GAL5 gene. PMID: 24026681
7. GM3 synthase deficiency, responsible for early-onset epilepsy syndrome, leads to a secondary respiratory chain dysfunction. PMID: 22990144
8. Data demonstrate that valproic acid (VPA) transcriptionally regulates human GM3 synthase (hST3Gal V), which catalyzes ganglioside GM3 biosynthesis in ARPE-19 human retinal pigment epithelial cells. PMID: 21699754
9. GM3 exhibits the potential to regulate the allosteric structural transition from inactive to a signaling EGFR dimer, by preventing the autophosphorylation of the intracellular kinase domain in response to ligand binding PMID: 21571640
10. In vivo expression of the transcript gives rise to two human ST3Gal-V isoforms with distinct characteristics. PMID: 20219466
11. ST6Gal I and ST3Gal V were positively correlated with the high risk of pediatric acute leukemia. PMID: 19709745
12. GM3 synthase overexpression results in reduced cell motility and in caveolin-1 upregulation in human ovarian carcinoma cells PMID: 19759399
13. GM3 synthase mRNA levels were significantly higher in differentiated human monocyte-derived macrophages compared to monocytes and in atherosclerotic aorta compared to normal aorta PMID: 19415461
14. isolation and characterization of the promoter region PMID: 12393190
15. enhanced expression of GM3 synthase through protein kinase C /extracellular regulated kinases-dependent cAMP-responsive element binding protein activation by phorbol 12-myristate 13-acetate is associated with the differentiation of HL-60 cells PMID: 15385432
16. ). We sequenced genes in the region and identified a nonsense mutation in SIAT9, which is predicted to result in the premature termination of the GM3 synthase enzyme (also called lactosylceramide alpha-2,3 sialyltransferase). PMID: 15502825
17. These results are the first demonstration of the existence of a new isoform of human GM3 synthase, which could play an important role during HL60 cell differentiation. PMID: 16934889
18. GM3 synthase point mutation almost completely depletes human fibroblast cellular gangliosides, dampens membrane EGFR activation, and modulates related critical cell functions such as proliferation and migration PMID: 18480157
19. Ganglioside GM3 inhibits VEGF/VEGFR-2-mediated angiogenesis. Direct interaction of GM3 with VEGFR-2 is reported. PMID: 18974200

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HGNC: 10872

OMIM: 604402

KEGG: hsa:8869

STRING: 9606.ENSP00000366549

UniGene: Hs.415117