Entity Details

Primary name PHACTR1
Entity type gene
Source Source Link

Details

PrimaryID221692
RefseqGene
SymbolPHACTR1
Namephosphatase and actin regulator 1
Chromosome6
Location6p24.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-05-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPHAR1_HUMAN

GO terms

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GOName
GO:0003779 actin binding
GO:0004864 protein phosphatase inhibitor activity
GO:0005634 nucleus
GO:0005829 cytosol
GO:0008157 protein phosphatase 1 binding
GO:0019888 protein phosphatase regulator activity
GO:0021987 cerebral cortex development
GO:0030036 actin cytoskeleton organization
GO:0031032 actomyosin structure organization
GO:0031532 actin cytoskeleton reorganization
GO:0043149 stress fiber assembly
GO:0045202 synapse
GO:0048870 cell motility
GO:0140059 dendrite arborization
GO:2001222 regulation of neuron migration

Diseases

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Disease IDSourceNameDescription
618298 OMIMDevelopmental and epileptic encephalopathy 70 (DEE70)A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions

InteractorPartnerSourcesPublicationsLink
PHACTR1CBX8BioGRID, IntAct32296183 details
PHACTR1C14orf119BioGRID, IntAct32296183 details
PHACTR1PPP1CABioGRID, HPRD15107502 details
PHACTR1ACTA1BioGRID, HPRD15107502 details
PHACTR1EIF4BBioGRID, IntAct30021884 details
PHACTR1H2BC9BioGRID, IntAct30021884 details
PHACTR1TRIM25BioGRID29117863 details