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55746 NUP133

55746

NUP133

nucleoporin 133

protein-coding

Homo sapiens

基因描述

Type Description
Definition nucleoporin 133

研究结论

Date Results Publications
2019-08-31 11:20:00 These data of this study indicated that the biallelic NUP133 loss-of-function mutation causes Galloway-Mowat syndrome. 30427554
2019-06-01 11:09:00 Nup133 effectively assembled Nup107 and ELYS of the nuclear pore complex at the end of the mitosis. 30821042
2010-09-15 22:05:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086
2010-09-15 22:05:00 Observational study of gene-disease association. (HuGE Navigator) 19913121
2010-01-21 00:00:00 The significant topological differences between Nup107 and Nup133 suggest that helical nucleoporin domains of the nuclear pore complex scaffold fall in different classes and fulfill largely nonredundant functions. 18570875

名称对应

Type IDs
Synonymous NPHS18, hNUP133
Gene
UniProtKB-ID: NU133_HUMAN
UniprotKB: Q8WUM0
UniParc: UPI000013D17A
EMBL: AK314431, BC020107, AL121990, AK001754, AL160004, AK022572, AK001676, AL139252
Ensembl: ENSG00000069248
KO: hsa:55746
Nucleutide sequences
EMBL-CDS: BAB14106.1, BAA91829.1, BAG37045.1, AAH20107.1, BAA91885.1
Ensembl_TRS: ENST00000261396
Protein sequencees
Ensembl_PRO: ENSP00000261396
RefSeq: NP_060700.2
Others
UniRef100: UniRef100_Q8WUM0
UniRef90: UniRef90_Q8WUM0
UniRef50: UniRef50_Q8WUM0
UniGene: Hs.12457
CCDS: CCDS1579.1

全选

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研究热度

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