HS2ST1

Ideogram human chromosome 1

HS2ST1

HS2ST1, also known as Heparan Sulfate 2-O-Sulfotransferase 1, is an enzyme that in humans is encoded by the HS2ST1 gene. This gene encodes a member of the heparan sulfate sulfotransferase gene family. The protein encoded by this gene is involved in the biosynthesis of heparan sulfate, a key component of the extracellular matrix and essential for various biological processes.

Function

HS2ST1 is responsible for the transfer of sulfate groups to specific positions on heparan sulfate chains. This sulfation pattern is crucial for the interactions between heparan sulfate and various proteins, such as growth factors, cytokines, and enzymes. These interactions play important roles in cell signaling, development, and tissue homeostasis.

Clinical Significance

Mutations in the HS2ST1 gene have been associated with developmental disorders and diseases. Disruptions in heparan sulfate biosynthesis can lead to abnormal cell signaling and tissue development, contributing to conditions such as skeletal dysplasia and neurological disorders.

Structure

The HS2ST1 protein consists of multiple functional domains that are responsible for substrate recognition and sulfate transfer. These domains work together to modify heparan sulfate chains with precision, ensuring the proper sulfation pattern required for biological activity.

Regulation

The expression and activity of HS2ST1 are tightly regulated to maintain the balance of heparan sulfate sulfation in cells and tissues. Various factors, including growth factors and signaling pathways, can influence the transcription and function of HS2ST1, thereby modulating heparan sulfate structure and function.

References

1. Kim BT, Kitagawa H, Tamura J, Saito T, Kusche-Gullberg M, Lindahl U, Sugahara K. Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4-N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/heparin biosynthesis. Proc Natl Acad Sci U S A. 2001;98(13):7176-7181. doi:10.1073/pnas.121042798 2. Pallerla SR, Pan Y, Zhang X, et al. Heparan sulfate Ndst1 gene function variably regulates multiple signaling pathways during mouse development. Dev Dyn. 2007;236(2):556-563. doi:10.1002/dvdy.21049