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64374 SIL1

64374

SIL1

SIL1 nucleotide exchange factor

protein-coding

Homo sapiens

基因描述

Type Description
Definition SIL1 nucleotide exchange factor

研究结论

Date Results Publications
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
2019-07-27 10:26:00 single-molecule FRET experiments with mammalian proteins reveal that Bap affects the conformation of both BiP domains, including the lid subdomain, which is important for substrate binding 29323281
2019-05-25 12:28:00 Findings indicate that SIL1 deficiency alters secretory transport, potentially contributing to the cellular pathology of Marinesco-Sjogren syndrome. 30293566
2018-01-27 10:50:00 SIL1-depleted HEK293 cells are an appropriate model to identify proteins modulated by SIL1 expression level. 26468156
2017-09-23 12:46:00 In a child with Marinesco-Sjogren syndrome it was found that a mutation in SIL1 affected the translation initiation site and the endoplasmic reticulum-targeting signal sequence. 27544240

名称对应

Type IDs
Synonymous BAP, MSS, ULG5
Gene
UniProtKB-ID: SIL1_HUMAN, A0A0S2Z6B4_HUMAN
UniprotKB: Q9H173, A0A0S2Z6B4
UniParc: UPI000003ED21
EMBL: AY358950, CH471062, AK075177, KU178743, AF547994, AJ299442, AK074624, BC011568
Ensembl: ENSG00000120725
KO: hsa:64374
Nucleutide sequences
EMBL-CDS: EAW62121.1, EAW62120.1, BAC11096.1, AAH11568.1, BAC11452.1, AAQ89309.1, CAC17773.1, AAN84477.1, ALQ34201.1
Gene_ORFName: UNQ545/PRO836
Ensembl_TRS: ENST00000394817, ENST00000265195
Protein sequencees
Ensembl_PRO: ENSP00000378294, ENSP00000265195
RefSeq: XP_024301932.1, NP_071909.1, XP_011541872.1, NP_001032722.1
Others
UniRef100: UniRef100_Q9H173
UniRef90: UniRef90_Q9H173
UniRef50: UniRef50_Q9H173
UniGene: Hs.483521
CCDS: CCDS4209.1

全选

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