ST3GAL3

ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Identifiers
SymbolsST3GAL3 ; EIEE15; MRT12; SIAT6; ST3GALII; ST3GalIII; ST3N
External IDsOMIM: 606494 MGI: 1316659 HomoloGene: 7539 GeneCards: ST3GAL3 Gene
EC number2.4.99.6
Orthologs
SpeciesHumanMouse
Entrez648720441
EnsemblENSG00000126091ENSMUSG00000028538
UniProtQ11203P97325
RefSeq (mRNA)NM_001270459NM_001161774
RefSeq (protein)NP_001257388NP_001155246
Location (UCSC)Chr 1:
43.71 – 43.93 Mb
Chr 4:
117.93 – 118.13 Mb
PubMed search

ST3 beta-galactoside alpha-2,3-sialyltransferase 3, also known as ST3GAL3, is a protein which in humans is encoded by the ST3GAL3 gene.[1][2]

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.[2]

Interestingly, 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 considererd a congenital disorder of glycosylation.

See also

References

  1. Kitagawa H, Paulson JC (July 1993). "Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase". Biochemical and Biophysical Research Communications 194 (1): 375–82. doi:10.1006/bbrc.1993.1830. PMID 8333853.
  2. 2.0 2.1 "Entrez Gene: ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3".

Further reading