Entrez Summary: 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].
UniProt Summary: Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5. {ECO:0000269|PubMed:12356756}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
adenyl-nucleotide exchange factor activity
unfolded protein binding
protein folding
endoplasmic reticulum lumen
intracellular protein transport
endoplasmic reticulum
protein transport
intracellular transport
peptide transport
amide transport
cellular protein localization
cellular macromolecule localization
extracellular space
establishment of protein localization
establishment of localization in cell
nitrogen compound transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)