Entity Details

Primary name PIEZO1
Entity type gene
Source Source Link

Details

PrimaryID9780
RefseqGeneNG_042229
SymbolPIEZO1
Namepiezo type mechanosensitive ion channel component 1
Chromosome16
Location16q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsPIEZ1_HUMAN

GO terms

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GOName
GO:0005261 cation channel activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0006812 cation transport
GO:0008381 mechanosensitive ion channel activity
GO:0010831 positive regulation of myotube differentiation
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031258 lamellipodium membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0033625 positive regulation of integrin activation
GO:0033634 positive regulation of cell-cell adhesion mediated by integrin
GO:0042391 regulation of membrane potential
GO:0050982 detection of mechanical stimulus
GO:0071260 cellular response to mechanical stimulus

Diseases

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Disease IDSourceNameDescription
194380 OMIMDehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1)An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis. The disease is caused by variants affecting the gene represented in this entry. All disease-causing mutations characterized so far produce a gain-of-function phenotype, mutated channels exhibiting increased cation transport in erythroid cells, that could be due to slower channel inactivation rate compared to the wild-type protein.
616843 OMIMLymphatic malformation 6 (LMPHM6)A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM6 is an autosomal recessive, severe form manifesting as generalized lymphatic dysplasia. It is characterized by uniform, widespread swelling of all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions, and with a high incidence of non- immune hydrops fetalis. The disease is caused by variants affecting the gene represented in this entry.