Recombinant Human Nucleotide exchange factor SIL1 (SIL1)

1. SIL1-depleted HEK293 cells are an appropriate model to identify proteins modulated by SIL1 expression level. PMID: 26468156
2. In a child with Marinesco-Sjogren syndrome it was found that a mutation in SIL1 affected the 5' UTR, translation initiation site and the endoplasmic reticulum-targeting signal sequence. PMID: 27544240
3. this case study is the first report on Chinese Marinesco-Sjogren syndrome (MSS) patients, MSS complicated by Dandy-Walker syndrome (DWS), and a nonstop mutation in SIL1; our findings imply the pathogenetic association between DWS and MSS PMID: 27106665
4. Two NEFs, Grp170 and Sil1, trigger toxin release from BiP to enable successful retrotranslocation and clarify the fate of the toxin after it disengages from BiP. PMID: 25877869
5. This study demonistrated that SIL1 mutation in patient with ataxia telangiectasia PMID: 24631270
6. The mutations prevent SIL1 from interacting with and regulating HSPA5, leading to abnormal neuronal morphology and migration. PMID: 24473200
7. The study confirms the previous findings of mutations in SIL1 being the major cause of Marinesco-Sjogren syndrome. PMID: 24176978
8. The clinical features and two novel SIL1 mutations of four Dutch patients with Marinesco-Sjogren syndrome are described PMID: 23062754
9. the very C-terminal residues of SIL1 play a role in its structural integrity rather than its localization. PMID: 22219183
10. The patients described here manifested the cardinal features of Marinesco-Sjogren syndrome, but did not exhibit any mutation in the exons and flanking introns of the SIL1 gene. PMID: 22115007
11. Some reported cases of Marinesco-Sjogren syndrome without base alterations in the SIL1 gene are caused by deletions rather than locus heterogeneity. PMID: 20111056
12. Interactions between Kar2p and its nucleotide exchange factors Sil1p and Lhs1p are mechanistically distinct PMID: 20430899
13. BAP serves as a nucleotide exchange factor for BiP PMID: 12356756
14. Nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjogren syndrome were identified. PMID: 16282977
15. Four Marinesco-Sjogren syndrome-associated loss-of-function mutations in SIL1 leading to disturbed SIL1-HSPA5 interaction and protein folding were identified. PMID: 16282978
16. A novel mutation in BAP/SIL1 gene causes Marinesco-Sjogren syndrome in an extended pedigree. PMID: 17026626
17. SIL1 mutation is associated with Marinesco-Sjogren syndrome PMID: 18285827
18. We sequenced the entire SIL1-coding region in 3 unrelated Japanese patients with classical MSS and identified a novel homozygous frameshift insertion mutation, 936_937insG, in exon 9 in all 3 patients. PMID: 18395226
19. data report two novel SIL1 missense mutations in two consanguineous Pakistani families affected with Marinesco-Sjogren syndrome PMID: 19471582

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HGNC: 24624

OMIM: 248800

KEGG: hsa:64374

STRING: 9606.ENSP00000265195

UniGene: Hs.483521