HUWE1 是一类具有HETC (homologous to E6AP C terminus)功能域的泛素化连接酶。 研究发现,HUWE1 参与细胞凋亡、基因组DNA损伤、肿瘤抑制因子调控和神经细胞分化增殖等重要生理过程。 现主要针对泛素化连接酶HUWE1在肿瘤发生、男性生殖系统损伤、胚胎发育异常与神经发育疾病中的研究进展以及调节机制进行综述。 关键词:泛素化连接酶;HUWE1;肿瘤;生殖;胚胎发育;神经发育中图分类号:Q55 ;R321 ;R730.2文献标志码:A.

2024年12月25日 · HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with HUWE1 include Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type and Syndromic X-Linked Intellectual Disability Turner Type.

HUWE1 is a gene located on the X chromosome. It holds the chemical instructions (DNA) to create a protein called E3 ubiquitin-protein ligase. This protein is present in all cells in the human body meaning that any variations or mutations in the HUWE1 gene can have significant effects throughout the body.

E3 ubiquitin-protein ligase HUWE1 is an enzyme that in humans is encoded by the HUWE1 gene. [5] [6] [7] It performs the third step (ligation) in binding ubiquitin to proteins in a process called ubiquitination which tags the proteins for disposal. Human genetic studies that implicate HUWE1 in intellectual disability. [8]

该基因编码的蛋白质含有一个 C 端 HECT (E6AP 型 E3 泛素蛋白连接酶) 结构域，该结构域作为 E3 泛素连接酶发挥作用。 编码的蛋白质是抗凋亡蛋白 Mcl1 (骨髓细胞白血病序列 1 (BCL2 相关) ) 的泛素化和随后降解所必需的。 这种蛋白质还泛素化 p53 肿瘤抑制因子、核心组蛋白和 DNA 聚合酶 β。 该基因的突变与特纳型 X 连锁综合征认知障碍有关。 [RefSeq 提供，2013 年 8 月]

Huwe1 is a highly conserved member of the HECT E3 ubiquitin ligase family. Here, we explore the growing importance of Huwe1 in nervous system development, function and disease. We discuss extensive progress made in deciphering how Huwe1 regulates neural progenitor proliferation and differentiation, cell migration, and axon development.

2020年6月10日 · Small molecule-mediated inhibition of HUWE1 resulted in growth arrest of MM cell lines without significantly effecting the growth of normal bone marrow cells, suggesting a favorable therapeutic...

2022年3月8日 · Huwe1 deficiency promotes ferroptotic cell death in vitro and exacerbates ferroptosis in acute liver injury in vivo. This is achieved by less TfR1 ubiquitination and stabilization upon the loss...

The E3 ligase HUWE1 (also known as ARF-BP1, HECTH9, HSPC272, Ib772, LASU1, MULE, URE-B1, UREB1, and HECT, UBA and WWE domain-containing E3 ubiquitin protein ligase 1) is encoded by the huwe1 gene. HUWE1 is a key regulator of the DNA damage response, transcription, autophagy, apoptosis and metabolism in a variety of cancers.

2021年7月22日 · HUWE1 is a universal quality-control E3 ligase that marks diverse client proteins for proteasomal degradation. Although the giant HECT enzyme is an essential component of the...