UniProt Protein Function: | ST3GAL3: Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta- 1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- or NeuAc-alpha- 2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3- GalNAc. Defects in ST3GAL3 are the cause of mental retardation autosomal recessive type 12 (MRT12). Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Belongs to the glycosyltransferase 29 family. 26 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Glycan Metabolism - glycosphingolipid biosynthesis - lacto and neolacto series; Transferase; EC 2.4.99.6; Membrane protein, integral; Glycan Metabolism - keratan sulfate biosynthesis Chromosomal Location of Human Ortholog: 1pter-p32.3 Disease: Mental Retardation, Autosomal Recessive 12 |
NCBI Summary: | 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. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2012] |
UniProt Code: | Q11203 |
NCBI GenInfo Identifier: | 1705561 |
NCBI Gene ID: | 6487 |
NCBI Accession: | Q11203.1 |
UniProt Secondary Accession: | Q11203,Q5T4W9, Q5T4X0, Q5T4X7, Q5T4X8, Q5T4X9, Q5T4Y0 Q5T4Y2, Q5T4Y3, Q5T4Y4, A9Z1W2, D3DPX8, |
UniProt Related Accession: | Q11203 |
Molecular Weight: | 8,178 Da |
NCBI Full Name: | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase |
NCBI Synonym Full Names: | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
NCBI Official Symbol: | ST3GAL3 |
NCBI Official Synonym Symbols: | ST3N; MRT12; SIAT6; EIEE15; ST3GALII; ST3GalIII |
NCBI Protein Information: | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase; ST3Gal III; alpha 2,3-ST 3; alpha-2,3-sialyltransferase II; alpha 2,3-sialyltransferase III; Gal beta-1,3(4)GlcNAc alpha-2,3 sialyltransferase; mental retardation, non-syndromic, autosomal recessive, 12; sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase) |
UniProt Protein Name: | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase |
UniProt Synonym Protein Names: | Beta-galactoside alpha-2,3-sialyltransferase 3; Alpha 2,3-ST 3; Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase; N-acetyllactosaminide alpha-2,3-sialyltransferase; ST3Gal III; ST3GalIII; ST3N; Sialyltransferase 6 |
Protein Family: | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase |
UniProt Gene Name: | ST3GAL3 |
UniProt Entry Name: | SIAT6_HUMAN |