Property Summary

NCBI Gene PubMed Count 30
Grant Count 101
R01 Count 45
Funding $24,061,338.46
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 0.001
ovarian cancer 1.400 0.000

Synonym

Accession Q9H173 D3DQC2 Q8N2L3
Symbols BAP
MSS
ULG5

Gene

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
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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.
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