HGS

Description

The HGS (hepatocyte growth factor-regulated tyrosine kinase substrate) is a protein-coding gene located on chromosome 17.

The HGS gene, a human gene, encodes a protein involved in intracellular signal transduction mediated by cytokines and growth factors. It is also known as Hepatocyte growth factor-regulated tyrosine kinase substrate (Hrs) or Protein pp110.

The HGS gene plays a crucial role in intracellular signaling pathways triggered by cytokines and growth factors. When interacting with STAM, it inhibits DNA signaling in response to stimulation by IL-2 and GM-CSF. It might function as a direct effector of PI3-kinase within the vesicular pathway through early endosomes, potentially regulating trafficking to early and late endosomes by recruiting clathrin. This protein could concentrate ubiquitinated receptors within clathrin-coated regions. It participates in the downregulation of receptor tyrosine kinase through multivesicular bodies (MVBs) when bound to STAM, forming the ESCRT-0 complex. This complex binds ubiquitin and acts as a sorting mechanism, recognizing ubiquitinated receptors and directing them to subsequent lysosomal sorting and trafficking processes. HGS might facilitate the efficient recruitment of SMADs to the activin receptor complex. It's involved in receptor recycling through its association with the CART complex, a multiprotein assembly crucial for efficient transferrin receptor recycling but not for EGFR degradation.

HGS is also known as HRS.

Associated Diseases

WES Whole Exome Sequencing