ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 1

Alternative Names

  • ST3GAL1
  • Sialyltransferase 4A
  • SIAT4A
  • ST3O
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OMIM Number

607187

NCBI Gene ID

6482

Uniprot ID

Q11201

Length

117,687 bases

No. of Exons

11

No. of isoforms

1

Protein Name

CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1

Molecular Mass

39075 Da

Amino Acid Count

340

Genomic Location

chr8:133,454,847-133,572,533

Gene Map Locus
8q24.22

Description

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 but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_173344.3:c.995A>GUnited Arab EmiratesNC_000008.11:g.133459792T>CUncertain SignificanceNM_173344.3:c.995A>G; NP_775479.1:p.Asn332Ser149294559
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