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

Uniprot Id

Q9UNP4

Target Species

Human

Target Name

ST3GAL5

Target Full Name

Lactosylceramide alpha-2,3-sialyltransferase

Target Function

Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the non-reducing terminal galactose (Gal) of glycosphingolipids forming gangliosides (important molecules involved in the regulation of multiple cellular processes, including cell proliferation and differentiation, apoptosis, embryogenesis, development, and oncogenesis). Mainly involved in the biosynthesis of ganglioside GM3 but can also use different glycolipids as substrate acceptors such as D-galactosylceramide (GalCer), asialo-GM2 (GA2) and asialo-GM1 (GA1), although less preferentially than beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer (LacCer).

Target Involvement

Salt and pepper developmental regression syndrome (SPDRS)

Target Subcellular Location

Golgi apparatus membrane; Single-pass type II membrane protein.

Target Protein Families

Glycosyltransferase 29 family

Target Tissue Specificity

Ubiquitous. High expression in brain, skeletal muscle, placenta, and testis. mRNA widely distributed in human brain, but slightly elevated expression was observed in the cerebral cortex, temporal lobe, and putamen.

Target Synonyms

3-sialyltransferase; CMP-NeuAc:lactosylceramide alpha-2; CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; EC 2.4.99.9; Ganglioside GM3 synthase; Lactosylceramide alpha-2,3-sialyltransferase; Sialyltransferase 9; SIAT9; SIAT9_HUMAN; SIATGM3S; ST3 beta-galactoside alpha-2,3-sialyltransferase 5; ST3GAL; ST3Gal V; ST3GAL5; ST3GalV

Target Background

Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene.