Nucleotide exchange factor SIL1 (SIL1)

Nucleotide exchange factor SIL1 (SIL1) is a protein encoded by the SIL1 gene, localized in the endoplasmic reticulum of eukaryotic cells. Its primary function is as a co-chaperone for the ER-resident Hsp70 chaperone BiP (also known as GRP78). SIL1 catalyzes the exchange of ADP for ATP on BiP, thereby facilitating BiP’s ATP-dependent protein folding cycle and ensuring proper folding and quality control of newly synthesized proteins as well as refolding of misfolded proteins. Additional roles include facilitating the release of protein substrates from BiP and modulating BiP’s activity in response to cellular redox changes. Mutations in SIL1 disrupt these critical processes and cause Marinesco-Sjögren syndrome, characterized by multisystem involvement particularly affecting neuromuscular function and protein homeostasis. SIL1 is not currently recognized as a direct clinical drug target, nor are there approved drugs or associated biomarkers for its direct modulation.

Other names

BiP-associated protein (BAP)MSSSIL1 homolog, endoplasmic reticulum chaperoneSIL1 proteinSIL1_HUMANULG5UNQ545/PRO836

null (not a known therapeutic target; mechanism of action not defined for drugs)