ST3GAL3

ST3 beta-galactoside alpha-2,3-sialyltransferase 3, also known as ST3GAL3, is a protein which in humans is encoded by the ST3GAL3 gene.^[5][6]

ST3GAL3
Identifiers
Aliases	ST3GAL3, EIEE15, MRT12, SIAT6, ST3GALII, ST3GalIII, ST3N, ST3 beta-galactoside alpha-2,3-sialyltransferase 3, ST3Gal III, DEE15
External IDs	OMIM: 606494; MGI: 1316659; HomoloGene: 7539; GeneCards: ST3GAL3; OMA:ST3GAL3 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.1 Start 43,705,824 bp[1] End 43,931,165 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 D1- D2.1 Start 117,789,351 bp[2] End 117,992,111 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh gastrocnemius muscle left testis right testis right frontal lobe ganglionic eminence apex of heart epithelium of nasopharynx ventricular zone anterior cingulate cortex Top expressed in muscle of thigh motor neuron right ventricle masseter muscle ankle medial head of gastrocnemius muscle lumbar subsegment of spinal cord internal carotid artery intercostal muscle left lobe of liver More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity glycosyltransferase activity sialyltransferase activity beta-galactoside (CMP) alpha-2,3-sialyltransferase activity N-acetyllactosaminide alpha-2,3-sialyltransferase activity Cellular component integral component of membrane Golgi apparatus membrane extracellular region Golgi cisterna membrane Golgi membrane Biological process sialylation protein glycosylation O-glycan processing keratan sulfate biosynthetic process oligosaccharide metabolic process protein N-linked glycosylation via asparagine Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6487 20441 Ensembl ENSG00000126091 ENSMUSG00000028538 UniProt Q11203 P97325 RefSeq (mRNA) NM_001270459 NM_001270460 NM_001270461 NM_001270462 NM_001270463 NM_001270464 NM_001270465 NM_001270466 NM_006279 NM_174963 NM_174964 NM_174965 NM_174966 NM_174967 NM_174968 NM_174969 NM_174970 NM_174971 NM_174972 NM_001350619 NM_001350620 NM_001350621 NM_001363573 NM_001161774 NM_001285520 NM_001285521 NM_009176 RefSeq (protein) NP_001257388 NP_001257389 NP_001257390 NP_001257391 NP_001257392 NP_001257393 NP_001257394 NP_001257395 NP_006270 NP_777623 NP_777624 NP_777625 NP_777626 NP_777627 NP_777628 NP_777629 NP_777630 NP_777631 NP_001337548 NP_001337549 NP_001337550 NP_001350502 NP_001155246 NP_001272449 NP_001272450 NP_033202 Location (UCSC) Chr 1: 43.71 – 43.93 Mb Chr 4: 117.79 – 117.99 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Multiple transcript variants encoding several different isoforms have been found for this gene.^[6]

Mutations in the ST3GAL3 gene was recently shown to be the cause of autosomal recessive mental retardation 12. Since the mutations disrupt a glycosylation pathway, this disorder may be considered a congenital disorder of glycosylation.

See also

• Sialyltransferase