Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene. [5] Phosphatidylinositol 3-kinase phosphorylates the inositol ring of …

PIK3R1 disease is a rare genetic disease of the immune system that was first described in 2013. The disease goes by several names, including activated PI3K syndrome.

Mar 30, 2025 · PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with PIK3R1 include Short Syndrome and Agammaglobulinemia 7, …

The PIK3R1 gene provides instructions for making a part (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). Learn about this gene and related health conditions.

Mar 26, 2025 · Lnc-PIK3R1, transcriptionally suppressed by YY1, inhibits hepatocellular carcinoma progression via the Lnc-PIK3R1/miR-1286/GSK3beta axis. A p85 isoform switch …

PIK3R1 negatively regulates PI3K-AKT activation, and loss of PIK3R1 is known to result in increased AKT phosphorylation in various cell types and in GEMMs of cancer …

Germline PIK3R1 variants are associated with varying phenotypes, including immunodeficiency or facial dysmorphism with growth delay, lipoatrophy, and insulin resistance associated with …

Jan 5, 2025 · Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory …

PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1) belongs to class IA of the PI3K family. PIK3R1 exhibits structural complexity due to alternative splicing, giving rise to distinct …

HGNC Approved Gene Symbol: PIK3R1. Cytogenetic location: 5q13.1 Genomic coordinates (GRCh38) : 5:68,215,756-68,301,821 (from NCBI) Phosphatidylinositol 3-kinase (PI3K) is a …