Aliases for PIEZO1 Gene
External Ids for PIEZO1 Gene
Previous HGNC Symbols for PIEZO1 Gene
Previous GeneCards Identifiers for PIEZO1 Gene
The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]
GeneCards Summary for PIEZO1 Gene
PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1) is a Protein Coding gene. Diseases associated with PIEZO1 include Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema and Lymphatic Malformation 6. Gene Ontology (GO) annotations related to this gene include cation channel activity and mechanosensitive ion channel activity. An important paralog of this gene is PIEZO2.
UniProtKB/Swiss-Prot Summary for PIEZO1 Gene
Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed:23479567, PubMed:23695678). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium. 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 the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as 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).