ST3GAL5

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. [provided by RefSeq]

Full Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

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) (PubMed:9822625, PubMed:16934889).
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) (PubMed:16934889).

Biological Process

Biological Process carbohydrate metabolic processManual Assertion Based On ExperimentTAS:ProtInc
Biological Process ganglioside biosynthetic process1 PublicationNAS:UniProtKB
Biological Process glycosphingolipid biosynthetic processManual Assertion Based On ExperimentTAS:ProtInc
Biological Process protein glycosylationManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Golgi apparatus membrane

Involvement in disease

Salt and pepper developmental regression syndrome (SPDRS):
A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities.

Topology

Cytoplasmic: 1-61
Helical: 62-82
Lumenal: 83-418

PTM

N-glycosylated.