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57520 HECW2

57520

HECW2

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

研究结论

Date Results Publications
2019-01-19 12:16:00 Ectopic expression of HECW2 causes the ubiquitination of HP1alpha and beta, thereby targeting them for proteasomal degradation. 30208514
2018-12-22 10:28:00 Results show that HECW2 interacts with two lamin A-binding proteins: proliferating cell nuclear antigen (PCNA), via a canonical PCNA-interacting protein (PIP) motif, and lamin B1. HECW2 mediates their ubiquitination and targets them for proteasomal degradation. 29753763
2017-12-02 11:02:00 HECW2, a novel EC ubiquitin E3 ligase, plays a critical role in stabilizing endothelial cell-to-cell junctions by regulating AMOT-like 1 (AMOTL1) stability. 27498087
2017-11-25 14:34:00 HECW2 is an ubiquitin ligase that stabilises p73, a crucial mediator of neurodevelopment and neurogenesis. This study implicates pathogenic genetic variants in HECW2 as potential causes of neurodevelopmental disorders in humans. 27389779
2017-08-26 12:04:00 This work lends further support to previously identified candidate gene HECW2 as a novel candidate gene in intellectual disability and epilepsy. In 39 patient-parent trios, 29 de novo mutations in coding sequence were identified. 27334371

名称对应

Type IDs
Synonymous NDHSAL, NEDL2
Gene
UniProtKB-ID: HECW2_HUMAN, A0A2R8Y6F3_HUMAN
UniprotKB: Q9P2P5, A0A2R8Y6F3
UniParc: UPI00001A75E8, UPI0003EB0352, UPI000BB9FC7B
EMBL: BC117198, AC073905, AC074090, AB037722, AC093379, AC020571, CR749424, BC117194, AC068544, AL390186
Ensembl: ENSG00000138411
KO: hsa:57520
Nucleutide sequences
EMBL-CDS: CAH18262.1, CAB99103.1, AAI17199.1, AAI17195.1, BAA92539.1
Ensembl_TRS: ENST00000647236, ENST00000644978, ENST00000260983, ENST00000644256, ENST00000644030
Protein sequencees
Ensembl_PRO: ENSP00000260983, ENSP00000494800, ENSP00000494649, ENSP00000495418, ENSP00000495504
RefSeq: NP_065811.1, NP_001335697.1, NP_001291769.1, XP_024308789.1, XP_024308788.1, XP_006712711.1, XP_006712709.1
Others
UniRef100: UniRef100_A0A2R8Y6F3, UniRef100_Q9P2P5
UniRef90: UniRef90_Q9P2P5
UniRef50: UniRef50_Q9P2P5
UniGene: Hs.654742
CCDS: CCDS33354.1

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