Phosphatase and actin regulator 1 (PHACTR1)

Phosphatase and actin regulator 1 (PHACTR1) is a human protein encoded by the *PHACTR1* gene located on chromosome 6. It is primarily expressed in brain (notably the globus pallidus, cortex, hippocampus, and striatum) and vascular endothelial cells. PHACTR1 belongs to a family of regulatory proteins that bind both actin and the serine/threonine phosphatase PP1, controlling cytoskeletal reorganization, cell migration, and endothelial tubulogenesis[1][2][3][4][7]. The protein contains multiple RPEL repeats for actin binding and unique motifs for PP1 interaction, allowing it to modulate PP1 activity and link cytoskeleton state to cell signaling. PHACTR1 is regulated by VEGF and NRP-1 signaling in endothelial cells and participates in key brain functions including neuron migration and synaptic plasticity. Genetic variants and mutations in PHACTR1 are linked to cardiovascular disease (notably coronary artery disease and myocardial infarction) and certain neurodevelopmental epilepsies[1][2][3][4]. No approved drugs are currently known to target PHACTR1 directly, but it is suggested as a potential diagnostic or therapeutic target in vascular and neurological diseases[3][4].

Other names

KIAA1733RPEL1dJ257A7.2DEE70EIEE70RPELRPEL repeat containing 1