sialyltransferase 9; CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; alpha-2,3-sialyltransferase V; ganglioside GM3 synthase (SIAT9, ST3GAL5, ST3GALV)

Function

• catalyzes the formation of ganglioside GM3

CMP-N-acetylneuraminate +
beta-D-galactosyl-1,4-beta-D-glucosylceramide
                <-->
CMP + alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4- beta-D-glucosylceramide

Structure

• N-glycosylated
• belongs to the glycosyltransferase 29 family

Compartment

Golgi membrane

Alternative splicing

named isoforms=3

Expression

• ubiquitous
• high expression in brain, skeletal muscle, placenta, & testis

Pathology

• defects in ST3GAL5 are the cause of Amish infantile epilepsy syndrome

More general terms

• sialyltransferase
• membrane protein
• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/604402
• UniProt: http://www.uniprot.org/uniprot/Q9UNP4.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8869