Entrez 5295 | Ensembl ENSG00000145675 | |
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Aliases PIK3R1, AGM7, GRB1, IMD36, p85, p85-ALPHA, phosphoinositide-3-kinase regulatory subunit 1 External IDs MGI: 97583 HomoloGene: 7889 GeneCards: PIK3R1 | ||
Phosphatidylinositol 3-kinase regulatory subunit alpha is an enzyme that in humans is encoded by the PIK3R1 gene.
Contents
Function
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 subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in three transcript variants encoding different isoforms.
Clinical significance
Mutations in PIK3R1 are implicated in cases of breast cancer .
Mutations in PIK3R1 are associated to SHORT syndrome .
Interactions
PIK3R1 has been shown to interact with: