GPS1

Description

The GPS1 (G protein pathway suppressor 1) is a protein-coding gene located on chromosome 17.

COP9 signalosome complex subunit 1 is a protein that in humans is encoded by the GPS1 gene. This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene.

GPS1 is a critical component of the COP9 signalosome complex (CSN), which plays a central role in regulating various cellular processes and development. The CSN acts as a key regulator of the ubiquitin (Ubl) conjugation pathway by removing NEDD8 from the cullin subunits of SCF-type E3 ligase complexes, resulting in a decrease in the activity of these Ubl ligases, including SCF, CSA, and DDB2. Moreover, the CSN complex is involved in phosphorylation of several proteins such as p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1, and IRF8/ICSBP. This phosphorylation might occur through interactions with CK2 and PKD kinases. CSN-mediated phosphorylation of TP53 promotes its degradation by the Ubl system, while phosphorylation of JUN protects it from degradation. Furthermore, GPS1 acts as a suppressor of signal transduction pathways mediated by G-proteins and mitogen-activated protein kinases.

GPS1 is also known as COPS1, CSN1, SGN1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing