Aliases for HGS Gene
External Ids for HGS Gene
Previous GeneCards Identifiers for HGS Gene
The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010]
GeneCards Summary for HGS Gene
HGS (Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate) is a Protein Coding gene. Diseases associated with HGS include charcot-marie-tooth disease and myofascial pain syndrome. Among its related pathways are Signaling by GPCR and Endocytosis. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is WDFY1.
UniProtKB/Swiss-Prot for HGS Gene
Involved in intracellular signal transduction mediated by cytokines and growth factors. When associated with STAM, it suppresses DNA signaling upon stimulation by IL-2 and GM-CSF. Could be a direct effector of PI3-kinase in vesicular pathway via early endosomes and may regulate trafficking to early and late endosomes by recruiting clathrin. May concentrate ubiquitinated receptors within clathrin-coated regions. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with STAM (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes. May contribute to the efficient recruitment of SMADs to the activin receptor complex. Involved in receptor recycling via its association with the CART complex, a multiprotein complex required for efficient transferrin receptor recycling but not for EGFR degradation.