SIL1

Nucleotide exchange factor SIL1 is a protein that in humans is encoded by the SIL1 gene.

This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized.

Interactions

SIL1 has been shown to interact with Binding immunoglobulin protein.

References

External links

  • GeneReviews/NCBI/NIH/UW entry on Marinesco-Sjögren Syndrome
  • Further reading


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