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FLASH GENE
Symbol PHACTR1 contributors: mct - updated : 15-04-2019
HGNC name phosphatase and actin regulator 1
HGNC id 20990
Corresponding disease
EIEE70 epileptic encephalopathy, early infantile, 70
Location 6p24.1      Physical location : 12.717.832 - 13.287.528
Synonym name RPEL repeat containing 1
Synonym symbol(s) KIAA1733, dJ257A7.2, RPEL1, EIEE70, RPEL, MGC126575, MGC126577
DNA
TYPE functioning gene
STRUCTURE 573.63 kb     12 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 3045 - 580 - 2018 29884117
18 - 2855 - 580 - 2018 29884117
14 - 2810 - 580 - 2018 29884117
14 - 2701 - 580 - 2018 29884117
14 - 2776 - 649 - 2018 29884117
12 - 2462 - 488 - 2018 29884117
12 - 2825 - 488 - 2018 29884117
13 - 3032 - 557 - 2018 29884117
13 - 2964 - 650 - 2018 29884117
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   highly Homo sapiens
Endocrinepancreas   moderately
Lymphoid/Immunespleen   moderately
Nervousbrainbasal nucleicaudate nucleus highly Homo sapiens
 brainlimbic systemhippocampus highly Homo sapiens
 spinal cord   moderately
Reproductivefemale systemovary  moderately
 male systemtestis  lowly
Respiratorylung   moderately
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmoothvessel highly Homo sapiens
Nervouscentral  highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain (highly), liver (lowly)
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