ST3GAL5

ST3GAL5
Identifiers
Aliases	ST3GAL5, SATI, SIAT9, SIATGM3S, ST3GalV, ST3 beta-galactoside alpha-2,3-sialyltransferase 5, SPDRS, ST3Gal V
External IDs	OMIM: 604402; MGI: 1339963; HomoloGene: 2893; GeneCards: ST3GAL5; OMA:ST3GAL5 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	85,905,199 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	72,131,555 bp
RNA expression pattern
	Top expressed in
	right adrenal gland; ; right adrenal cortex; ; left adrenal gland; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; left adrenal cortex; ; C1 segment; ; lateral nuclear group of thalamus; ; decidua; ; middle temporal gyrus;
	Top expressed in
	granulocyte; ; fetal liver hematopoietic progenitor cell; ; adrenal gland; ; soleus muscle; ; blood; ; tibiofemoral joint; ; choroid plexus of fourth ventricle; ; superior frontal gyrus; ; epithelium of lens; ; temporal muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; lactosylceramide alpha-2,3-sialyltransferase activity; glycosyltransferase activity; neolactotetraosylceramide alpha-2,3-sialyltransferase activity; sialyltransferase activity; beta-galactoside (CMP) alpha-2,3-sialyltransferase activity;
Cellular component	integral component of membrane; Golgi apparatus; membrane; integral component of plasma membrane; Golgi membrane;
Biological process	glycosphingolipid biosynthetic process; protein glycosylation; oligosaccharide metabolic process; sialylation; protein N-linked glycosylation via asparagine; ganglioside biosynthetic process; carbohydrate metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	8869
	20454
	ENSG00000115525
	ENSMUSG00000056091
	Q9UNP4
	O88829
NM_001042437; NM_003896; NM_001354226; NM_001354227; NM_001354233;
	NM_001354234; NM_001354238; NM_001354247; NM_001354248; NM_001354223; NM_001354224; NM_001354229; NM_001363847
	NM_001035228; NM_011375
NP_001035902; NP_003887; NP_001341155; NP_001341156; NP_001341162;
	NP_001341163; NP_001341167; NP_001341176; NP_001341177; NP_001341152; NP_001341153; NP_001341158; NP_001350776
	NP_001030305; NP_035505
	Wikidata
View/Edit Human	View/Edit Mouse

Lactosylceramide alpha-2,3-sialyltransferase is an enzyme that in humans is encoded by the ST3GAL5 gene.

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.

Mutations in this gene have also been associated to ‘Salt & Pepper’ syndrome: an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. (doi: 10.1093/hmg/ddt434)