piezo type mechanosensitive ion channel component 1 (Er blood group)
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Diagnostic Grade (Green)
Cytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal hydrops
BOTH monoallelic and biallelic, autosomal or pseudoautosomalPrimary lymphoedema
BOTH monoallelic and biallelic, autosomal or pseudoautosomalRare anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary Erythrocytosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinteddehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
lymphedema, hereditary, iii
lymphatic malformation 6
dehydrated hereditary stomatocytosis
Varicose veins
Non-immune hydrops fetalis
hereditary disease
vein disorder
hydrops fetalis
hypothyroidism
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Piezo-type mechanosensitive ion channel component 1
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)
Curated MONDO disease pages that list PIEZO1 among their top associated genes.
PIEZO1 · Q92508
Mean pLDDT
72.1/ 100
Confident
2,521 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
