InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PIEZO1

Summary

InnateDB Protein

IDBP-46562.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PIEZO1

Protein Name

piezo-type mechanosensitive ion channel component 1

Synonyms

DHS; FAM38A; Mib;

Species

Homo sapiens

Ensembl Protein

ENSP00000301015

InnateDB Gene

IDBG-46558 (PIEZO1)

Protein Structure

UniProt Annotation

Function

Pore-forming subunit of a mechanosensitive non-specific cation channel, that conducts both sodium and potassium ions. 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. {ECO:0000269PubMed:20016066}.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Cell membrane; Multi-pass membrane protein. Note=In erythrocytes, located in the plasma membrane.

Disease Associations

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]: 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. {ECO:0000269PubMed:22529292, ECO:0000269PubMed:23479567, ECO:0000269PubMed:23695678}. Note=The disease is caused by mutations 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.

Tissue Specificity

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). {ECO:0000269PubMed:16854388, ECO:0000269PubMed:22529292, ECO:0000269PubMed:23479567}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005261	cation channel activity
GO:0008381	mechanically-gated ion channel activity

Biological Process

GO:0006812	cation transport
GO:0033625	positive regulation of integrin activation
GO:0033634	positive regulation of cell-cell adhesion mediated by integrin
GO:0034220	ion transmembrane transport
GO:0042391	regulation of membrane potential
GO:0050982	detection of mechanical stimulus

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane