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8021 NUP214

8021

NUP214

nucleoporin 214

protein-coding

Homo sapiens

基因描述

Type Description
Definition nucleoporin 214

研究结论

Date Results Publications
2020-05-16 11:36:00 these findings indicate that CRM1 acts as a key molecule that connects leukemogenic proteins to aberrant HOX gene regulation either via nucleoporin-CRM1 interaction (for SET-Nup214) or NES-CRM1 interaction (for NPM1c). 31755865
2020-03-21 12:29:00 Loss of Nup214 inhibited nuclear export of recombination signal-binding protein for immunoglobulin kappaJ region (RBP-J), the DNA-binding component of the Notch pathway. NUP214 fusion proteins, causative for certain cases of T-cell acute lymphatic leukemia, potentially contribute to tumorigenesis via a Notch-dependent mechanism. 31186352
2020-03-14 10:36:00 Pathogenic Variants in NUP214 Cause "Plugged" Channels and Acute Febrile Encephalopathy. 31178128
2019-06-15 10:27:00 oncogenic kinase NUP214-ABL1, through its downstream effector directly cooperates with TLX1 at the transcriptional level. 30107177
2019-03-30 11:53:00 we propose that while NUP214 complete deficiency may be lethal in humans, partial deficiency results in a novel autosomal recessive disorder characterized by severe encephalopathy and early death. 30758658

名称对应

Type IDs
Synonymous CAIN, CAN
Gene
UniProtKB-ID: NU214_HUMAN, B7ZAV2_HUMAN
UniprotKB: P35658, B7ZAV2
UniParc: UPI000178DE71, UPI00005C302E, UPI000178DE72, UPI000006F2A9, UPI00001BBB2F, UPI000191548D
EMBL: BC105998, AL157938, X64228, BC045620, AB159230, D14689, AK316417
Ensembl: ENSG00000126883
KO: hsa:8021
Nucleutide sequences
EMBL-CDS: BAD07398.1, AAI05999.1, CAA45535.1, AAH45620.2, BAA03515.1, BAH14788.1
Ensembl_TRS: ENST00000411637, ENST00000359428, ENST00000483497
Protein sequencees
Ensembl_PRO: ENSP00000352400, ENSP00000396576, ENSP00000436793
RefSeq: NP_001305253.1, NP_005076.3, NP_001305254.1
Others
UniRef100: UniRef100_P35658, UniRef100_B7ZAV2
UniRef90: UniRef90_P35658, UniRef90_B7ZAV2
UniRef50: UniRef50_P35658, UniRef50_A0A5F5XSF1
UniGene: Hs.654530
CCDS: CCDS6940.1, CCDS83429.1

全选

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