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81500 Sil1

81500

Sil1

endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae)

protein-coding

Mus musculus

基因描述

Type Description
Definition endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae)

研究结论

Date Results Publications
2020-08-01 10:12:00 SIL1 is required for the development of the central nervous system which is associated with its role in Reelin signaling. 31531014
2019-12-28 11:02:00 SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. The data expand the spectrum of tissues affected by SIL1-loss and suggest that impaired neuromuscular transmission might be part of Marinesco-Sjogren Syndrome pathophysiology. 30468864
2019-03-16 10:36:00 The protein but not the mRNA level of ORP150, a nucleotide exchange factor which can substitute for SIL1, was increased in the cerebellum of GSK2606414-treated woozy mice, suggesting that translational recovery promoted the synthesis of this alternative BiP co-factor 29718201
2018-11-10 10:15:00 these data reveal a disruption in endoplasmic reticulum homeostasis upon SIL1 loss, which is countered by multiple compensatory responses that are ultimately unsuccessful, leading to trans-organellar proteostasis collapse and myopathy. 29666155
2018-04-28 10:45:00 The carry a mutation in the Sil1 gene mice showed adult-onset ataxia with progressive neurodegeneration of the cerebellum. Homozygous wz mice might be useful as an animal model of diseases showing adult-onset ataxia because of cerebellar neurodegeneration. 28723727

名称对应

Type IDs
Synonymous 1810057E01Rik, AI042831, wz
Gene
UniProtKB-ID: SIL1_MOUSE
UniprotKB: Q9EPK6
UniParc: UPI00000E8315
EMBL: AJ297884, AK170415, BC016466, BC016119
Ensembl: ENSMUSG00000024357
KO: mmu:81500
Nucleutide sequences
EMBL-CDS: CAC17789.1, BAE41781.1, AAH16119.1, AAH16466.1
Ensembl_TRS: ENSMUST00000025215
Protein sequencees
Ensembl_PRO: ENSMUSP00000025215
RefSeq: XP_006526428.1, XP_036017203.1, XP_006526430.1, NP_109674.2, XP_011245345.1, NP_001347743.1, XP_030106495.1, XP_030106494.1
Others
UniRef100: UniRef100_Q9EPK6
UniRef90: UniRef90_Q9EPK6
UniRef50: UniRef50_Q9H173
UniGene: Mm.291482
CCDS: CCDS29140.1

全选

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