2024年12月24日 · ATP1A1 (ATPase Na+/K+ Transporting Subunit Alpha 1) is a Protein Coding gene. Diseases associated with ATP1A1 include Charcot-Marie-Tooth Disease, Axonal, Type 2Dd and Hypomagnesemia, Seizures, And Impaired Intellectual Development 2. Among its related pathways are Cardiac conduction and Infectious disease.

2013年2月2日 · ATP1A1 is the catalytic component of Na+/K+-ATPase which is a membrane bound enzyme primarily involved in generation of Na+ and K+ gradients across plasma membranes and in determination of cytoplasmic Na+ levels. ATP1A1 is a ubiquitously expressed membrane protein and often used as the marker or internal control for plasma membrane protein.

2025年3月8日 · Title: Homophilic ATP1A1 binding induces activin A secretion to promote EMT of tumor cells and myofibroblast activation. Insulin alleviates LPS-induced ARDS via inhibiting CUL4B-mediated proteasomal degradation and restoring expression level of Na,K-ATPase alpha1 subunit through elevating HCF-1.

ATPase Na+/K+ 转运亚基 alpha 1： 该基因编码的蛋白质属于 P 型阳离子转运 ATP 酶家族，属于 Na+/K+ -ATP 酶亚家族。 Na+/K+ -ATPase 是一种完整的膜蛋白，负责建立和维持 Na 和 K 离子跨质膜的电化学梯度。这些梯度对于渗透调节、各种有机和无机分子的钠偶联转运以及神经和肌肉的电兴奋性至关重要。

Sodium/potassium-transporting ATPase subunit alpha-1 is an enzyme that in humans is encoded by the ATP1A1 gene. [5] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na + /K +-ATPases.

2023年10月30日 · A panel of 14 cell types, including AML and non-cancerous blood cell lineages, confirmed a significant inverse correlation between the impact of UNBS1450 on cell viability (IC50 values) and both ...

2024年11月27日 · Clinical resource with information about ATP1A1, Charcot-marie-tooth disease, axonal, type 2DD, Hypomagnesemia, seizures, and intellectual disability 2, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2021年4月21日 · ATP1A1 variants may cause Na + /K +-ATPase loss of function and lead to a wide spectrum of phenotypes. This study aims to summarize the clinical and genetic features of ATP1A1 de novo mutation-related disorders and explore the potential correlations between phenotypes and genotypes.

The ATP1A1 gene encodes the alpha-1 isoform of the Na(+),K(+)-ATPase , an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. As these gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic ...

The ATP1A1 gene provides instructions for making one part (the alpha-1 subunit) of a protein pump known as a Na + /K + ATPase. This protein uses energy from a molecule called adenosine triphosphate (ATP) to transport charged atoms (ions) into and out of cells.