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FLASH GENE
Symbol PIEZO1 contributors: mct/shn - updated : 07-12-2016
HGNC name piezo-type mechanosensitive ion channel component 1
HGNC id 28993
Corresponding disease
DHS1 dehydrated hereditary stomatocytosis 1
LMPH3 lymphedema, hereditary, III
Location 16q24.3      Physical location : -
Synonym name
  • family with sequence similarity 38, member A
  • hypothetical protein KIAA0233
  • membrane-protein induced by beta-amyloid treatment
  • protein PIEZO1
  • Synonym symbol(s) KIAA0233, MIB, FAM38A, LMPH3
    DNA
    TYPE functioning gene
    STRUCTURE 69.63 kb     51 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D16S2621 - D16S3023 - PIEZO1 - D16S3026 - D16S3121 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    51 - 7833 - 2521 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly Mus musculusAdultNM_001039485
    Digestiveintestinesmall intestine  lowly Mus musculusAdultNM_001039485
     intestinelarge intestinecolon lowly Mus musculusAdult NM_001039485
     stomach   lowly Mus musculusAdultNM_001039485
    Nervousbrain   lowly Mus musculusAdult NM_001039485
     brainhindbraincerebellum lowly Mus musculusAdultNM_001039485
    Respiratorylung   highly Mus musculusAdultNM_001039485
    Skin/Tegumentskin   moderately Mus musculusAdultNM_001039485
    Urinarybladder   moderately Mus musculusAdult NM_001039485
     kidney   lowly Mus musculusAdultNM_001039485
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatum  lowly Mus musculusAdultNM_001039485
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal sequence
  • 24 transmembrane domains
  • HOMOLOGY
    interspecies ortholog to piezo1, Danio rerio
    ortholog to Piezo1, rattus norvegicus
    ortholog to Piezo1, Mus musculus
    Homologene
    FAMILY
  • FAM38 family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • required for the expression of ion channels activated by pressure
  • a beta-responsive gene that may play a role in astrocyte inflammatory activation around senile plaques in the Alzheimer brain
  • mediates integrin activation by recruiting the small GTPase RRAS to the ER, which activates the calcium-activated protease calpain by increasing Ca(2+) release from cytoplasmic stores
  • potential components of mechanically activated cation channels
  • involved in mechanotransduction
  • is involved in erythrocyte volume homeostasis, disruption of which results in swelling/lysis of red blood cells and consequent anemia
  • PIEZO1 and PIEZO2 encode mechanically activated cation channels that function as mechanotransducers involved in vascular system development and touch sensing, respectively
  • mediator of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes
  • responds to lateral membrane tension with exquisite sensitivity as compared to other mechanically activated channels and that resting tension can drive channel inactivation, thereby tuning overall mechanical sensitivity of PIEZO1
  • is a mechanosensitive eukaryotic cation-selective channel that rapidly inactivates in a voltage-dependent manner
  • is critically required for stretch-activated non-selective cationic channels (SACs) activity in collecting duct (CD) principal cells and is implicated in urinary osmoregulation
  • endothelial mechanosensitive cation channel PIEZO1 is required for flow-induced ATP release
  • is required for the regulation of NO formation, vascular tone, and blood pressure
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DHS1 , LMPH3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    aberrantly expressed in activated astrocytes associated with senile plaques, in Alzheimer disease, but not expressed in neurons around lesions
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with induced endothelium-specific Piezo1 deficiency lost the ability to induce NO formation and vasodilation in response to flow and consequently developed hypertension