PIEZO1
| PIEZO1 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | PIEZO1, DHS, FAM38A, Mib, LMPH3, piezo type mechanosensitive ion channel component 1 | |||||
| External IDs | MGI: 3603204 HomoloGene: 124356 GeneCards: PIEZO1 | |||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) |
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| Location (UCSC) | Chr 16: 88.72 – 88.79 Mb | Chr 8: 122.48 – 122.55 Mb | ||||
| PubMed search | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
Piezo1 is a mechanosensitive ion channel protein that in humans is encoded by the gene PIEZO1. Piezo1 and its close homolog piezo2 were cloned in 2010, using an siRNA-based screen for mechanosensitive ion channels.[3]
Structure and function
PIEZO1 (this gene) and PIEZO2 share 47% identity with each other and they have no similarity to any other protein and contain no known protein domains. They are predicted to have 24-36 transmembrane domains, depending on the prediction algorithm used. In the original publication the authors were careful not to call the piezo proteins ion channels, but a more recent study by the same lab convincingly demonstrated that indeed piezo1 is the pore forming subunit of a mechanosensitive channel.[4]
Tissue distribution
Piezo1 is expressed in the lungs, bladder and skin, where mechanosensation has important biological roles. Unlike Piezo2 which is highly expressed in sensory dorsal root ganglia, piezo1 is not expressed in sensory neurons.[3]
Clinical significance
Piezo1 is also found in red blood cells, and gain of function mutations in the channels are associated with hereditary xerocytosis or stomatocytosis.[5][6][7] Piezo1 channels are pivotal integrators in vascular biology[8].
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 Coste B, Mathur J, Schmidt M, Earley TJ, Ranade S, Petrus MJ, Dubin AE, Patapoutian A (October 2010). "Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels". Science. 330 (6000): 55–60. doi:10.1126/science.1193270. PMC 3062430
. PMID 20813920. - ↑ Coste B, Xiao B, Santos JS, Syeda R, Grandl J, Spencer KS, Kim SE, Schmidt M, Mathur J, Dubin AE, Montal M, Patapoutian A (March 2012). "Piezo proteins are pore-forming subunits of mechanically activated channels". Nature. 483 (7388): 176–81. doi:10.1038/nature10812. PMC 3297710. PMID 22343900.
- ↑ Zarychanski R, Schulz VP, Houston BL, Maksimova Y, Houston DS, Smith B, Rinehart J, Gallagher PG (August 2012). "Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis". Blood. 120 (9): 1908–15. doi:10.1182/blood-2012-04-422253. PMID 22529292.
- ↑ Bae C, Gnanasambandam R, Nicolai C, Sachs F, Gottlieb PA (March 2013). "Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1". Proceedings of the National Academy of Sciences of the United States of America. 110 (12): E1162–8. doi:10.1073/pnas.1219777110. PMID 23487776.
- ↑ Albuisson J, Murthy SE, Bandell M, Coste B, Louis-Dit-Picard H, Mathur J, Fénéant-Thibault M, Tertian G, de Jaureguiberry JP, Syfuss PY, Cahalan S, Garçon L, Toutain F, Simon Rohrlich P, Delaunay J, Picard V, Jeunemaitre X, Patapoutian A (2013). "Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels". Nature Communications. 4: 1884. doi:10.1038/ncomms2899. PMID 23695678.
- ↑ Li J, Hou B, Tumova S, Muraki K, Bruns A, Ludlow MJ, et al. (November 2014). "Piezo1 integration of vascular architecture with physiological force". Nature. 515 (7526): 279–82. doi:10.1038/nature13701. PMC 4230887. PMID 25119035.