PHACTR1

PHACTR1 is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection.

Full Name

Phosphatase And Actin Regulator 1

Function

Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation of PPP1CA activity (PubMed:21798305, PubMed:21939755).
Involved in the regulation of cortical neuron migration and dendrite arborization (By similarity).

Biological Process

Actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Actin cytoskeleton reorganizationISS:UniProtKB
Actomyosin structure organizationManual Assertion Based On ExperimentIMP:UniProtKB
Cell motilityManual Assertion Based On ExperimentIMP:UniProtKB
Cerebral cortex developmentISS:UniProtKB
Dendrite arborizationISS:UniProtKB
Regulation of neuron migrationISS:UniProtKB
Stress fiber assemblyManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Cytoplasm
Cell junction, synapse
Nucleus
Enriched at synapses (By similarity).
Cytoplasmic in resting cells, and is imported into the nucleus upon serum stimulation. Interaction with actin prevents nuclear import (By similarity).

Involvement in disease

Developmental and epileptic encephalopathy 70 (DEE70):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE70 is an autosomal dominant form with onset in first months of life and variable severity.