Entrez gene ID | | 64374 |
Official gene symbol | | SIL1 |
Full name | | SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) |
Aliases | | ,BAP,MSS,ULG5, |
Gene 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] |
Location | | Chromosome: 5 Locus: 5q31 |
Gene position | | 138534065 - 138282409 Map Viewer |
Gene orientation | | minus |
Gene size | | 251657 bp |
Gene sequence |
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OMIM ID | | 608005 |
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