HS3ST3B1

Chr 17

heparan sulfate-glucosamine 3-sulfotransferase 3B1

Also known as: 3-OST-3B, 3OST3B1, h3-OST-3B

NCBI Gene: 9953 ENSG00000125430 UniProt: Q9Y662 OMIM: 604058

This gene encodes a heparan sulfate 3-O-sulfotransferase that catalyzes the transfer of sulfate groups to specific glucosamine residues in heparan sulfate chains, modifying these glycosaminoglycans to create binding sites for various proteins including viral entry receptors. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia. The gene shows moderate constraint to loss-of-function variants, and the resulting neurodevelopmental disorder typically manifests in early childhood.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

OMIM ResearchGenerating clinical summary…

LOEUF 0.78

Clinical Summary— HS3ST3B1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

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