{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q92508","secondaryAccessions":["A6NHT9","A7E2B7","Q0KKZ9"],"uniProtkbId":"PIEZ1_HUMAN","entryAudit":{"firstPublicDate":"2001-10-18","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2011-01-11","entryVersion":192,"sequenceVersion":4},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Piezo-type mechanosensitive ion channel component 1"}},"alternativeNames":[{"fullName":{"value":"Membrane protein induced by beta-amyloid treatment"},"shortNames":[{"value":"Mib"}]},{"fullName":{"value":"Protein FAM38A"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:28993"}],"value":"PIEZO1"},"synonyms":[{"value":"FAM38A"},{"value":"KIAA0233"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"E2JF22"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q91X60"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25955826"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29799007"}],"value":"Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain (PubMed:23479567, PubMed:23695678, PubMed:25955826, PubMed:37590348). Piezo channels are homotrimeric three-blade propeller-shaped structures that utilize a cap-motion and plug-and-latch mechanism to gate their ion-conducting pathways (PubMed:37590348). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium (By similarity). Conductance to monovalent alkali ions is highest for K(+), intermediate for Na(+) and lowest for Li(+) (PubMed:25955826). Divalent ions except for Mn(2+) permeate the channel but more slowly than the monovalent ions and they also reduce K(+) currents (PubMed:25955826). Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling (PubMed:20016066). In inner ear hair cells, PIEZO1/2 subunits may constitute part of the mechanotransducer (MET) non-selective cation channel complex where they may act as pore-forming ion-conducting component in the complex (By similarity). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing (By similarity). Acts as a shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity). Acts as a sensor of phosphatidylserine (PS) flipping at the plasma membrane and governs morphogenesis of muscle cells (By similarity). In myoblasts, flippase-mediated PS enrichment at the inner leaflet of plasma membrane triggers channel activation and Ca2+ influx followed by Rho GTPases signal transduction, leading to assembly of cortical actomyosin fibers and myotube formation (PubMed:29799007)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"K(+)(in) = K(+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29463"},{"database":"ChEBI","id":"CHEBI:29103"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25955826"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Na(+)(in) = Na(+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:34963"},{"database":"ChEBI","id":"CHEBI:29101"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25955826"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Ca(2+)(in) = Ca(2+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29671"},{"database":"ChEBI","id":"CHEBI:29108"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25955826"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Mg(2+)(in) = Mg(2+)(out)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:29827"},{"database":"ChEBI","id":"CHEBI:18420"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25955826"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25955826"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29799007"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37590348"}],"value":"Regulated by auxillary subunits MDFIC and MDFI (PubMed:37590348). Down-regulated by phosphatidylserines exposed on the cell surface. Divalent ions decrease the single-channel permeability of K(+) (PubMed:25955826)"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"E2JF22"}],"value":"Homotrimer; the homotrimer forms a propeller-shaped Piezo channel with a cation-ion conducting pore (PubMed:37590348). Heterotrimeric interaction may occur between PIEZO1 and PIEZO2 (By similarity). Interacts with PKD2 (By similarity). Interacts with STOML3 (By similarity). Interacts with TMC1, TMC2, PCDH15 and CIB2; the interaction may be part of the MET complex (By similarity). Interacts with MDFIC (via C-terminus); the interaction prolongs Piezo channel inactivation (PubMed:37590348). Interacts with MDFI (via C-terminus); the interaction prolongs Piezo channel inactivation (PubMed:37590348)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q92508","intActId":"EBI-10986212"},"interactantTwo":{"uniProtKBAccession":"Q6UW02","geneName":"CYP20A1","intActId":"EBI-11066876"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q92508","intActId":"EBI-10986212"},"interactantTwo":{"uniProtKBAccession":"P04155","geneName":"TFF1","intActId":"EBI-743871"},"numberOfExperiments":5,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"E2JF22"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22529292"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23479567"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25119035"}],"value":"In erythrocytes, located in the plasma membrane (PubMed:22529292, PubMed:23479567). Accumulates at the leading apical lamellipodia of endothelial cells in response to shear stress (PubMed:25119035). Colocalizes with F-actin and MYH9 at the actomyosin cortex in myoblasts"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20016066"}],"value":"Endoplasmic reticulum membrane","id":"SL-0097"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"E2JF22"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q0KL00"}],"value":"Endoplasmic reticulum-Golgi intermediate compartment membrane","id":"SL-0099"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22529292"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23479567"}],"value":"Cell membrane","id":"SL-0039"},"topology":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"E2JF22"}],"value":"Multi-pass membrane protein","id":"SL-9909"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25119035"}],"value":"Cell projection, lamellipodium membrane","id":"SL-0292"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16854388"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22529292"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23479567"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29799007"}],"value":"Expressed in numerous tissues. In normal brain, expressed exclusively in neurons, not in astrocytes. In Alzheimer disease brains, expressed in about half of the activated astrocytes located around classical senile plaques. In Parkinson disease substantia nigra, not detected in melanin-containing neurons nor in activated astrocytes. Expressed in erythrocytes (at protein level). Expressed in myoblasts (at protein level)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23479567"}],"value":"At 17 weeks of gestation, strongly expressed in hepatic erythroblasts. At that stage, also expressed in fetal splenic plasma cells and in lymphatic vessel of fetal peritoneum. In vitro, up-regulated during the erythroid differentiation of CD34+ cells from healthy donors (at protein level)"}],"commentType":"DEVELOPMENTAL STAGE"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36122374"}],"value":"PIEZO1 is responsible for the Er blood group system (ER) [MIM:620207]. At least five antigens have been identified: Er(a), Er(b), Er(3), Er(4), and Er(5). The molecular basis of the Er(a)/Er(b) polymorphism is a single variation at position 2394; Gly-2394 corresponds to Er(a) and Ser-2394 to Er(b), while the Er(3) antigen is recognized by antibodies produced by Er(a-b-) individuals. The Er(4) and Er(5) antigens are defined by Glu-2407 and Arg-2245, respectively. Alloantibodies against Er(4) and Er(5) are associated with hemolytic disease of the fetus and newborn"}],"commentType":"POLYMORPHISM"},{"commentType":"DISEASE","disease":{"diseaseId":"Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema","diseaseAccession":"DI-03801","acronym":"DHS1","description":"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.","diseaseCrossReference":{"database":"MIM","id":"194380"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22529292"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23479567"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23487776"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23581886"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23695678"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23973043"}]},"note":{"texts":[{"value":"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"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Lymphatic malformation 6","diseaseAccession":"DI-04669","acronym":"LMPHM6","description":"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.","diseaseCrossReference":{"database":"MIM","id":"616843"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26333996"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"value":"Piezo comes from the Greek 'piesi' meaning pressure"}],"commentType":"MISCELLANEOUS"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the PIEZO (TC 1.A.75) family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":2521,"modifier":"EXACT"}},"description":"Piezo-type mechanosensitive ion channel component 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