2022年8月11日 · PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable ...

2024年12月25日 · PI4KA (Phosphatidylinositol 4-Kinase Alpha) is a Protein Coding gene. Diseases associated with PI4KA include Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities and Spastic Paraplegia 84, Autosomal Recessive. Among its related pathways are PI Metabolism and Metabolism.

2023年2月18日 · 目前，一些临床前研究已经揭示了在癌症中靶向pi4ka和pi4kb的潜力。pi4ka在细胞上催化生成pi4p，pi4p可被磷酸化成pi(4,5)p2，通过进一步磷酸化生成促生长信号pip3。hras, nras和kras是人类癌症中最常见的一些突变基因，其中ia类pi3k p110α的活化产生pip3在ras驱动的 …

Phosphatidylinositol 4-kinase alpha is an enzyme that in humans is encoded by the PI4KA gene. [5][6][7] This gene encodes a 1-phosphatidylinositol 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate.

Gene ID: 5297, updated on 8-Feb-2025. This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine.

2024年12月20日 · The lipid kinase phosphatidylinositol 4 kinase III α (PI4KIIIα/PI4KA) is a master regulator of the lipid composition and asymmetry of the plasma membrane. PI4KA exists primarily in a heterotrimeric complex with its regulatory proteins TTC7 and FAM126.

2023年1月7日 · pi4ka在hcv感染中的关键作用促进有效和特异性pi4ka抑制剂的开发。 PI4KB抑制 剂可预防病毒感染，寄生虫感染 ， PI4KA和PI4KB 抑制剂具有抗 癌作用 。 表 4 III型PI4K和II、III类PI3K的抑制剂总结

2021年12月31日 · Here we show that biallelic PI4KA sequence alterations in humans are associated with neurological disease, in particular hypomyelinating leukodystrophy. In addition, affected individuals may present with inflammatory bowel disease, multiple intestinal atresia and combined immunodeficiency.

该基因编码磷脂酰肌醇 (PI) 4-激酶，该酶催化磷脂酰肌醇 4,5-二磷酸生物合成中的第一个关键步骤。 哺乳动物 PI 4-激酶已根据其分子量以及去污剂和腺苷的调节分为两种类型，II 和 III。 该基因编码的蛋白质是一种不受腺苷抑制的 III 型酶。 可变剪接导致编码不同异构体的多个转录变体。 [RefSeq 提供，2018 年 4 月] This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate.

Ubiquitous expression in cortex adult (RPKM 25.4), frontal lobe adult (RPKM 25.2) and 28 other tissues. 该基因编码的蛋白可启动 1-磷脂酰肌醇 4-激酶活性。 参与磷脂酰肌醇磷酸盐的生物合成过程。 预测位于高尔基相关囊泡膜。 预计在细胞质和质膜中有活性。 以多种结构表达，包括消化系统；泌尿生殖系统；神经系统;呼吸系统;和感觉器官。 与人 PI4KA（磷脂酰肌醇 4-激酶 α）同源。 [由基因组资源联盟提供，2022 年 4 月] Enables 1-phosphatidylinositol 4-kinase activity.

2021年10月22日 · PI4KA is a phosphoinositide kinase that is highly expressed in the brain and is essential for life. Here we used whole exome or genome sequencing to identify 10 unrelated patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental ...

2014年2月28日 · Phosphatidylinositol 4-kinase type IIIα (PI4KA) is a host factor essential for hepatitis C virus replication and hence is a target for drug development. PI4KA has also been linked to endoplasmic reticulum exit sites and generation of plasma membrane phosphoinositides. Here, we developed highly speci …

2023年8月1日 · Phosphatidylinositol 4-kinase alpha (PI4KA) generates PI4P at the plasma membrane and PIKfyve generates PI (3,5)P 2 at endo-lysosomal membranes. Both of these enzymes exist as multi-protein mega complexes that are under myriad levels of regulation.

2023年12月1日 · PI4KA is essential and is highly conserved in all eukaryotes. In yeast, the PI4KA ortholog stt4 predominantly exists as a heterodimer with its regulatory partner ypp1. In higher eukaryotes, PI4KA instead primarily forms a heterotrimer with a TTC7 subunit (ortholog of ypp1) and a FAM126 subunit.

2022年5月17日 · Different viruses have evolved unique approaches toward activating PI4K enzymes to form ROs, through both direct binding of PI4Ks and modulation of PI4K accessory proteins. This review will focus on PI4KA and PI4KB and discuss their roles in signaling, functions in membrane trafficking and manipulation by viruses.

文章中，研究人员观察并分析了一种称之为双等位基因PI4KA的遗传突变，其会影响机体中B细胞（产生抗体的细胞）的功能，且对于帮助机体免疫系统抵御感染非常重要。 这些突变会破坏患者体内B细胞的功能，从而使得细胞难以正常发育和发挥功能，因此研究人员利用称之为mTOR抑制剂的新型药物来治疗这些罕见的疾病。 研究者Matteo Barberis博士表示，我们希望我们的研究能为遭受这些罕见疾病的患者带来治疗希望，利用多组学、大数据整合方法，我们就能更好地理解这 …

The type III Phosphatidylinositol 4-kinase alpha (PI4KA) is an essential lipid kinase that is a master regulator of phosphoinositide signalling at the plasma membrane (PM). It produces the predominant pool of phosphatidylinositol 4-phosphate (PI4P) at …

2016年10月21日 · Title: Adaptor proteins mediate CXCR4 and PI4KA crosstalk in prostate cancer cells and the significance of PI4KA in bone tumor growth. CircPI4KA Overexpression Enhances Carcinogenesis and Glycolysis Metabolism in Papillary Thyroid Carcinoma by Causing the miR-1287-5p-Mediated NRP2 Expression Elevation.

2024年4月30日 · The lipid kinase phosphatidylinositol 4 kinase III alpha (PI4KIIIα/PI4KA) is a master regulator of the lipid composition and asymmetry of the plasma membrane. PI4KA exists primarily in a heterotrimeric complex with its regulatory proteins TTC7 and FAM126.

2022年10月19日 · Phosphatidylinositol-4-kinase alpha (PI4KIIIα), encoded by the <i>PI4KA</i> gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. <i>PI4KA</i> mutations can cause autosomal recessive diseases involving n …