ST3GAL5

Lactosylceramide alpha-2,3-sialyltransferase is an enzyme that in humans is encoded by the ST3GAL5 gene.^[5][6]

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)[1] Band 2p11.2 Start 85,837,120 bp[1] End 85,905,199 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 C1 Start 72,074,576 bp[2] End 72,131,555 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 8869 20454 Ensembl ENSG00000115525 ENSMUSG00000056091 UniProt Q9UNP4 O88829 RefSeq (mRNA) 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 RefSeq (protein) 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 Location (UCSC) Chr 2: 85.84 – 85.91 Mb Chr 6: 72.07 – 72.13 Mb PubMed search [3] [4]
Wikidata
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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.^[6]

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)