Property Summary

NCBI Gene PubMed Count 30
PubMed Score 967.69
PubTator Score 54.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
subependymal giant cell astrocytoma 2.350 1.3e-03
ovarian cancer 1.400 4.2e-05

Gene RIF (16)

PMID Text
25877869 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.
24631270 This study demonistrated that SIL1 mutation in patient with ataxia telangiectasia
24473200 The mutations prevent SIL1 from interacting with and regulating HSPA5, leading to abnormal neuronal morphology and migration.
24176978 The study confirms the previous findings of mutations in SIL1 being the major cause of Marinesco-Sjogren syndrome.
23062754 The clinical features and two novel SIL1 mutations of four Dutch patients with Marinesco-Sjogren syndrome are described
22219183 the very C-terminal residues of SIL1 play a role in its structural integrity rather than its localization.
22115007 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.
20430899 Interactions between Kar2p and its nucleotide exchange factors Sil1p and Lhs1p are mechanistically distinct
20111056 Some reported cases of Marinesco-Sjogren syndrome without base alterations in the SIL1 gene are caused by deletions rather than locus heterogeneity.
19471582 data report two novel SIL1 missense mutations in two consanguineous Pakistani families affected with Marinesco-Sjogren syndrome
18395226 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.
18285827 SIL1 mutation is associated with Marinesco-Sjogren syndrome
17026626 A novel mutation in BAP/SIL1 gene causes Marinesco-Sjogren syndrome in an extended pedigree.
16282978 Four Marinesco-Sjogren syndrome-associated loss-of-function mutations in SIL1 leading to disturbed SIL1-HSPA5 interaction and protein folding were identified.
16282977 Nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sjogren syndrome were identified.
12356756 BAP serves as a nucleotide exchange factor for BiP

AA Sequence

MAPQSLPSSRMAPLGMLLGLLMAACFTFCLSHQNLKEFALTNPEKSSTKETERKETKAEEELDAEVLEVF      1 - 70
HPTHEWQALQPGQAVPAGSHVRLNLQTGEREAKLQYEDKFRNNLKGKRLDINTNTYTSQDLKSALAKFKE     71 - 140
GAEMESSKEDKARQAEVKRLFRPIEELKKDFDELNVVIETDMQIMVRLINKFNSSSSSLEEKIAALFDLE    141 - 210
YYVHQMDNAQDLLSFGGLQVVINGLNSTEPLVKEYAAFVLGAAFSSNPKVQVEAIEGGALQKLLVILATE    211 - 280
QPLTAKKKVLFALCSLLRHFPYAQRQFLKLGGLQVLRTLVQEKGTEVLAVRVVTLLYDLVTEKMFAEEEA    281 - 350
ELTQEMSPEKLQQYRQVHLLPGLWEQGWCEITAHLLALPEHDAREKVLQTLGVLLTTCRDRYRQDPQLGR    351 - 420
TLASLQAEYQVLASLELQDGEDEGYFQELLGSVNSLLKELR                                 421 - 461
//

Text Mined References (30)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25877869 2015 The nucleotide exchange factors Grp170 and Sil1 induce cholera toxin release from BiP to enable retrotranslocation.
25416956 2014 A proteome-scale map of the human interactome network.
24631270 2014 Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.
24473200 2014 SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.
24176978 2013 SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
23062754 2013 Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
22219183 2012 C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.
22115007 2011 Heterogeneity of Marinesco-Sjögren syndrome: report of two cases.
21269460 2011 Initial characterization of the human central proteome.
20430899 2010 Interactions between Kar2p and its nucleotide exchange factors Sil1p and Lhs1p are mechanistically distinct.
20111056 2010 Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
19471582 2009 Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18395226 2008 Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.
18285827 2008 Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
17026626 2006 A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16502470 2006 Human colostrum: identification of minor proteins in the aqueous phase by proteomics.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
16282978 2005 The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
16282977 2005 Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
14512967 2003 Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12356756 2002 BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.
11101517 2000 LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum.
2791656 1989 Report of the committee on linkage and gene order.