Hypoxia-inducible factor prolyl hydroxylase 2 (HIF-PH2), or prolyl hydroxylase domain-containing protein 2 (PHD2), is an enzyme encoded by the EGLN1 gene. It is also known as Egl nine homolog 1. [5] [6] [7] [8] PHD2 is a α-ketoglutarate/2-oxoglutarate-dependent hydroxylase, a superfamily non-haem iron-containing proteins.

2024年12月24日 · EGLN1 (Egl-9 Family Hypoxia Inducible Factor 1) is a Protein Coding gene. Diseases associated with EGLN1 include Erythrocytosis, Familial, 3 and Hemoglobin, High Altitude Adaptation. Among its related pathways are Cellular responses to stimuli and Autodegradation of the E3 ubiquitin ligase COP1.

2024年4月26日 · EGLN1 is identified as a key mediator of the oxygen enhancement of antiviral innate immune responses. Under sufficient oxygen conditions, EGLN1 retains its prolyl hydroxylase activity to...

这种蛋白质起着细胞氧传感器的作用，在正常氧浓度下，脯氨酰羟基化修饰是一个关键的调节事件，它通过 von Hippel-Lindau 泛素化复合物靶向 HIF 亚基进行蛋白酶体破坏。 该基因的突变与家族性红细胞增多症 3 型 (ECYT3) 有关。 [RefSeq 提供，2009 年 11 月] The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins.

2025年2月8日 · findings reveal a differential dependency of clear cell ovarian cancers on EGLN1, thus identifying EGLN1 as a potential therapeutic target in clear cell ovarian cancer patients; the high-altitude adaptative mutations in EGLN1 in Tibetans are absent or found at low frequency in highland Andeans

The EGLN1 gene, often known as PHD2, provides instructions for making an enzyme called prolyl hydroxylase domain 2 (PHD2). The PHD2 enzyme interacts with a protein called hypoxia-inducible factor 2-alpha (HIF-2α).

2024年10月9日 · egln1 通过催化靶向蛋白的脯氨酸羟基化传递氧气信号。过表达 egln1 显著增强了 ifn-β、cxcl10 等抗病毒基因的表达，并减少了病毒感染细胞的比例。相反，在 egln1 缺失的细胞中，这些抗病毒基因的表达减少，且感染细胞比例增加。使用催化失活的 egln1 突变体（h313a ...

2023年1月18日 · We found that this enzyme is a critical mediator of FGF23 production using CRISPR-mediated targeting in a novel mesenchymal stem cell line (‘MPC2’ cells) in vitro and conditional deletion of...

简而言之，低氧环境下，EGLN蛋白被抑制，而这个蛋白是对 HIF蛋白 进行负调节的。 外周血测序分析发现藏族人EGLN1基因 具有D4E/C127S这两个遗传多样性的结果如下： 接着看看生物学实验结果： 藏族人EGLN1蛋白出现的D4E/C127S这两个氨基酸位点的 遗传多样性 在低氧条件下 (1% O2), HIF-2a蛋白的水平低于常人。 不同氧气浓度下，藏族人和常人对EPO刺激红细胞生成的反应也存在显著区别。 下图是细胞学证据， a和b是常人对照，c和d是携带突变的藏族人，可见 …

2022年5月25日 · egln1 第 297 位赖氨酸残基的甲基化修饰，抑制了 egln1 对低氧信号通路的调控，影响细胞的代谢和增殖，从而调控细胞的低氧适应。