Aliases for SIL1 Gene
External Ids for SIL1 Gene
Previous HGNC Symbols for SIL1 Gene
Previous GeneCards Identifiers for 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for SIL1 Gene
SIL1 (SIL1 Nucleotide Exchange Factor) is a Protein Coding gene. Diseases associated with SIL1 include Marinesco-Sjogren Syndrome and Marshall-Smith Syndrome. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include binding and unfolded protein binding.
UniProtKB/Swiss-Prot for SIL1 Gene
Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.