ST3GAL1

Chr 8

ST3 beta-galactoside alpha-2,3-sialyltransferase 1

Also known as: Gal-NAc6S, SIAT4A, SIATFL, ST3GalA, ST3GalA.1, ST3GalIA, 1, ST3O

NCBI Gene: 6482 ENSG00000008513 UniProt: Q11201

The ST3GAL1 protein is a sialyltransferase that catalyzes the transfer of sialic acid to galactose-containing glycoproteins and glycolipids, playing a critical role in terminal sialylation of mucin-type O-glycans and regulation of CD8+ T cell survival. Mutations cause autosomal recessive intellectual disability with seizures, developmental delay, and T cell immunodeficiency. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.495), consistent with its essential role in glycosylation and immune function.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

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Mechanism

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