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HECW1

ID: 33874 添加时间: 2024/7/4 12:19:54 修改时间: 2024/12/23 0:55:47 词条编辑: 刘小见
同义词HECT,C2和WW域E3泛素蛋白连接酶1 ; HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1;KIAA0322 ; NEDL1 ;
基因信息染色体位置: 7p14.1-p13   基因类型: 蛋白编码基因 , 酶
层次树 人类基因组 2.转移酶 2.3-转移酶.酰基 2.3.2-转移酶.氨酰基 E3泛素连接酶 E3泛素转移酶,HECT型 域和家族 C2域 其他分类基因 微RNA蛋白编码宿主基因
外库HGNC   GeneCards   NCBI   Kegg   KO   UniProt   Signor   Ensembl   AllianceGenome   UCSC   VEGA   OMIM   PubMed1 2   RefSeq   ENA   CCDS1 ,2
父-分类
子-抑制
  • DVL1(1)     散乱节段极性蛋白1;dishevelled segment polarity protein 1
酶功能
  • EC 2.3.2.26 HECT型E3泛素转移酶(2)     HECT-type E3 ubiquitin transferase
相关RNA
简介
Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including cellular protein metabolic process; negative regulation of sodium ion transmembrane transporter activity; and regulation of dendrite morphogenesis. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Diseases associated with HECW1 include Spermatogenic Failure 59 and Lung Papillary Adenocarcinoma. Among its related pathways are Signaling by WNT and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is HECW2.
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1.
Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS).
Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS.
cDNA sequence,expressed in brain,>100kDa,related to rat ubiquitin ligase NEDD 4
Cytoplasm {ECO:0000269 PubMed:14684739}
Quaternary structure:
Interacts with DVL1 and SSR3.
Also interacts with mutant SOD1.