Basic Information

Symbol
SIL1
RNA class
mRNA
Alias
SIL1 Nucleotide Exchange Factor BAP ULG5 Nucleotide Exchange Factor SIL1 BiP-Associated Protein MSS SIL1 Homolog, Endoplasmic Reticulum Chaperone (S. Cerevisiae) SIL1-Like Protein Endoplasmic Reticulum Chaperone SIL1 Homolog, Endoplasmic Reticulum Chaperone Marinesco-Sjogren Syndrome
Location (GRCh38)
5:138946720-139293557
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_022464.5
Sequence length
1889.0 nt
GC content
0.5834

Transcripts

ID Sequence Length GC content
NM_001037633.2 NCBI
AGACGGUCGCCGCCGCGUUUGCGCAGGGGGAGCUGGUCGCCGCCGCGGC… 1977 nt 0.5781
NM_022464.5 NCBI
AGACGGUCGCCGCCGCGUUUGCGCAGGGGGAGCUGGUCGCCGCCGCGGC… 1889 nt 0.5834
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]

Forensic Context

A study in mice demonstrated that the SIL1 gene, an endoplasmic reticulum chaperone homolog, was commonly up-regulated following Kupffer cell-specific and endothelial cell-specific in vivo exposures to α-particles in the liver, as identified via oligonucleotide microarray analysis and validated by real-time PCR [Roudkenar et al. DOI:10.1269/jrr.07078]. This up-regulation was part of a broader inflammatory state and characteristic gene expression profile induced by radiation exposure.