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ST3GAL3

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ST3GAL3
Identifiers
AliasesST3GAL3, EIEE15, MRT12, SIAT6, ST3GALII, ST3GalIII, ST3N, ST3 beta-galactoside alpha-2,3-sialyltransferase 3, ST3Gal III, DEE15
External IDsOMIM: 606494; MGI: 1316659; HomoloGene: 7539; GeneCards: ST3GAL3; OMA:ST3GAL3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001161774
NM_001285520
NM_001285521
NM_009176

RefSeq (protein)

NP_001155246
NP_001272449
NP_001272450
NP_033202

Location (UCSC)Chr 1: 43.71 – 43.93 MbChr 4: 117.79 – 117.99 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Function

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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

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000126091Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028538Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kitagawa H, Paulson JC (Jul 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.
  6. ^ a b "Entrez Gene: ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3".

Further reading

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