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.
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Protein Aliases: BAP; BiP-associated protein; endoplasmic reticulum chaperone SIL1, homolog of yeast; Nucleotide exchange factor SIL1; SIL1; SIL1 homolog, endoplasmic reticulum chaperone; SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae); SIL1 protein; SIL1-like protein endoplasmic reticulum chaperone; ULG5
Gene Aliases: BAP; MSS; SIL1; ULG5; UNQ545/PRO836
UniProt ID: (Human) Q9H173
Entrez Gene ID: (Human) 64374