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4927 NUP88

4927

NUP88

nucleoporin 88

protein-coding

Homo sapiens

基因描述

Type Description
Definition nucleoporin 88

研究结论

Date Results Publications
2020-03-21 12:29:00 Loss of Nup88 inhibited nuclear export of recombination signal-binding protein for immunoglobulin kappaJ region (RBP-J), the DNA-binding component of the Notch pathway. 31186352
2019-03-09 11:37:00 Here we report biallelic mutations in the nucleoporin NUP88 as a novel cause of lethal fetal akinesia deformation sequence (FADS) in two families. We demonstrate that NUP88 depletion affects rapsyn, a key regulator of the muscle nicotinic acetylcholine receptor at the neuromuscular junction. 30543681
2019-01-19 12:16:00 Study in HeLa cells revealed that Nup88 can affect the phosphorylation status of vimentin, which may contribute to the Nup88-dependent multinucleated phenotype through changing the organization of vimentin. 29724197
2017-07-22 11:16:00 Overexpression of the NUP88 is associated with cancer. 27636375
2017-01-28 11:19:00 Nup88 may be related to the occurrence of endometrial cancers and premalignant lesions 26839161

名称对应

Type IDs
Gene
UniProtKB-ID: NUP88_HUMAN, B4DP20_HUMAN
UniprotKB: Q99567, B4DP20
UniParc: UPI00017A776E, UPI0000130894
EMBL: AK298158, Y08612, BC000335, CH471108
Ensembl: ENSG00000108559
KO: hsa:4927
Nucleutide sequences
EMBL-CDS: CAA69904.1, AAH00335.1, EAW90342.1, EAW90340.1, BAG60432.1
Ensembl_TRS: ENST00000573584
Protein sequencees
Ensembl_PRO: ENSP00000458954
RefSeq: XP_011522195.1, XP_016880183.1, NP_001307582.1, NP_002523.2
Others
UniRef100: UniRef100_B4DP20, UniRef100_Q99567
UniRef90: UniRef90_Q8CEC0, UniRef90_Q99567
UniRef50: UniRef50_Q99567
UniGene: Hs.584784
CCDS: CCDS11070.1

全选

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研究热度

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