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FLASH GENE
Symbol PHACTR1 contributors: mct - updated : 15-04-2019
HGNC name phosphatase and actin regulator 1
HGNC id 20990
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
three RPEL repeats
HOMOLOGY
interspecies homolog to murine Rpel1
Homologene
FAMILY
CATEGORY regulatory
SUBCELLULAR LOCALIZATION     plasma membrane,junction
    intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus
basic FUNCTION
  • inhibits PP1 enzymatic activity
  • PHACTR1 is likely to be a key regulator of endothelial cell function properties
  • PHACTR1 is a key component in the angiogenic process
  • PHACTR1 gene expression increases with the progression of calcification and regulation of PHACTR1 in SMCs modulates the severity of vascular calcification
  • PHACTR1 takes part in neuronal functions regulated in a spatiotemporal manner
  • PHACTR1 locus has also been involved in vascular hypertrophy in normal subjects, carotid dissection, migraine and coronary artery disease
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PP1 and actin
  • NRP1 regulates a new VEGF-induced gene, PHACTR1
  • PHACTR1 seems to regulate the skeletal to cardiac alpha-actin isoform ratio
  • regulates oxidative stress and inflammation to coronary artery endothelial cells via interaction with NFKB1/RELA
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE70
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in carotid plaques compared with normal carotid arteries
    Susceptibility
  • to coronary artery disease (CAD)
  • to coronary artery disease (CAD) events in familial hypercholesterolemia
  • to fibromuscular dysplasia (FMD)
    • Variant & Polymorphism SNP
  • variant (rs9349379) is associated with coronary artery disease (CAD)
  • rs12526453 SNP of the PHACTR1 gene is significantly associated with a 50 p100 reduction in the odds of coronary artery disease (CAD) events in familial hypercholesterolemia (FH)
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousvascular 
    may represent a new target for the development of anti-angiogenic therapy
    ANIMAL & CELL MODELS