PIEZO1
| PIEZO1 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) |
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| Location (UCSC) | Chr 16: 88.72 – 88.79 Mb | Chr 8: 123.21 – 123.28 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
PIEZO1 is a
Structure and function
PIEZO1 (this gene) and
It is known (PDB: 6B3R) that PIEZO1 channel is a three-bladed propeller-like structure. A lever-like mechanogating mechanism is assumed.[7][8]
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
Clinical significance
PIEZO1 is also found in
An allele of PIEZO1, E756del, results in a gain-of-function mutation, resulting in dehydrated RBCs and conveying resistance to Plasmodium. This allele has been demonstrated in vitro to prevent cerebral malaria infection.[14]
PIEZO1 has been implicated in extrusion of epidermal cells when a layer becomes too confluent to preserve normal skin homeostasis. This acts to prevent excess proliferation of skin tissue, and has been implicated in cancer biology as a contributing factor to metastases by assisting living cells in escaping from a monolayer.[15]
Expression of murine PIEZO1 in mouse
Lymphatic malformation 6 syndrome is caused by mutations in PIEZO1 and was characterized in 2015.[17]
PIEZO1 has been proposed as a therapeutic target for Alzheimer's disease. The build-up of amyloid-β plaques which stiffens the brain's structure. Microglial maintenance cells, which express PIEZO1, detect this stiffness via PIEZO1-enabled mechanosensation and in response surround, compact, and phagocytosize the plaques. Removal of the gene which codes for PIEZO1 in microglia decreases plaque clearance and hastens cognitive decline in rats.[18]
Ligands
- Agonists
Antagonists
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000103335 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014444 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ PMID 20813920.
- PMID 22343900.
- PMID 30500111.
- PMID 29610524.
- PMID 36173070.
- PMID 22529292.
- PMID 23487776.
- PMID 23695678.
- PMID 25119035.
- PMID 29576450.
- PMID 22504183.
- PMID 31435009.
- PMID 26333996.
- PMID 36368316.
- PMID 26001275.
- PMID 21696149.
- PMID 28076814.
- PMID 29498036.