PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group))

Gene

• Entrez ID: 9780
• Gene name: Piezo type mechanosensitive ion channel component 1 (Er blood group)
• Gene symbol: PIEZO1
• Synonyms: DHS, ER, FAM38A, LMPH3, LMPHM6, Mib
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: 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 w

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776989	C>T	Pathogenic	Missense variant, coding sequence variant
rs587776990	C>G	Pathogenic	Missense variant, coding sequence variant
rs587776991	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs587777764	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777765	G>A	Pathogenic	Missense variant, coding sequence variant
rs869025597	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs869025599	C>G,T	Pathogenic	Splice donor variant
rs1166021430	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1567659736	T>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006294	hsa-miR-10b-5p	Luciferase reporter assay	22322955
MIRT006294	hsa-miR-10b-5p	Luciferase reporter assay	22322955
MIRT006294	hsa-miR-10b-5p	Luciferase reporter assay	22322955
MIRT036601	hsa-miR-940	CLASH	23622248
MIRT490028	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT490027	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT490026	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT490025	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT490024	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490023	hsa-miR-5698	PAR-CLIP	23592263
MIRT490022	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490021	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490020	hsa-miR-4525	PAR-CLIP	23592263
MIRT490018	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT490019	hsa-miR-4447	PAR-CLIP	23592263
MIRT490017	hsa-miR-4472	PAR-CLIP	23592263
MIRT490016	hsa-miR-1275	PAR-CLIP	23592263
MIRT490015	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT490028	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT490027	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT490026	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT490025	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT490024	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490023	hsa-miR-5698	PAR-CLIP	23592263
MIRT490022	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490021	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490020	hsa-miR-4525	PAR-CLIP	23592263
MIRT490018	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT490019	hsa-miR-4447	PAR-CLIP	23592263
MIRT490017	hsa-miR-4472	PAR-CLIP	23592263
MIRT490016	hsa-miR-1275	PAR-CLIP	23592263
MIRT490015	hsa-miR-4665-5p	PAR-CLIP	23592263

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005261	Function	Cation channel activity	IBA	21873635
GO:0005261	Function	Cation channel activity	ISS
GO:0005515	Function	Protein binding	IPI	24798994
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	20016066
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0006812	Process	Cation transport	ISS
GO:0008381	Function	Mechanosensitive ion channel activity	IBA	21873635
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0031258	Component	Lamellipodium membrane	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0033625	Process	Positive regulation of integrin activation	IMP	20016066
GO:0033634	Process	Positive regulation of cell-cell adhesion mediated by integrin	IMP	20016066
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0050982	Process	Detection of mechanical stimulus	IBA	21873635
GO:0071260	Process	Cellular response to mechanical stimulus	IBA	21873635
GO:0098655	Process	Cation transmembrane transport	IEA

Other IDs

• MIM: 611184
• HGNC: 28993
• e!Ensembl: ENSG00000103335

Protein

• UniProt ID: Q92508
• Protein name: Piezo-type mechanosensitive ion channel component 1 (Membrane protein induced by beta-amyloid treatment) (Mib) (Protein FAM38A)
• Protein function: 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:2595
• PDB: 8YEZ, 8YFC, 8YFG, 8ZU3, 8ZU8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15917	PIEZO	1235 → 1465	Piezo	Family
  PF12166	Piezo_RRas_bdg	2111 → 2519	Piezo non-specific cation channel, R-Ras-binding domain	Family

• Sequence:

  MEPHVLGAVLYWLLLPCALLAACLLRFSGLSLVYLLFLLLLPWFPGPTRCGLQGHTGRLL
  RALLGLSLLFLVAHLALQICLHIVPRLDQLLGPSCSRWETLSRHIGVTRLDLKDIPNAIR
  LVAPDLGILVVSSVCLGICGRLARNTRQSPHPRELDDDERDVDASPTAGLQEAATLAPTR
  RSRLAARFRVTAHWLLVAAGRVLAVTLLALAGIAHPSALSSVYLLLFLALCTWWACHFPI
  STRGFSRLCVAVGCFGAGHLICLYCYQMPLAQALLPPAGIWARVLGLKDFVGPTNCSSPH
  ALVLNTGLDWPVYASPGVLLLLCYATASLRKLRAYRPSGQRKEAAKGYEARELELAELDQ
  WPQERESDQHVVPTAPDTEADNCIVHELTGQSSVLRRPVRPKRAEPREASPLHSLGHLIM
  DQSYVCALIAMMVWSITYHSWLTFVLLLWACLIWTVRSRHQLAMLCSPCILLYGMTLCCL
  RYVWAMDLRPELPTTLGPVSLRQLGLEHTRYPCLDLGAMLLYTLTFWLLLRQFVKEKLLK
  WAESPAALTEVTVADTEPTRTQTLLQSLGELVKGVYAKYWIYVCAGMFIVVSFAGRLVVY
  KIVYMFLFLLCLTLFQVYYSLWRKLLKAFWWLVVAYTMLVLIAVYTFQFQDFPAYWRNLT
  GFTDEQLGDLGLEQFSVSELFSSILVPGFFLLACILQLHYFHRPFMQLTDMEHVSLPGTR
  LPRWAHRQDAVSGTPLLREEQQEHQQQQQEEEEEEEDSRDEGLGVATPHQATQVPEGAAK
  WGLVAERLLELAAGFSDVLSRVQVFLRRLLELHVFKLVALYTVWVALKEVSVMNLLLVVL
  WAFALPYPRFRPMASCLSTVWTCVIIVCKMLYQLKVVNPQEYSSNCTEPFPNSTNLLPTE
  ISQSLLYRGPVDPANWFGVRKGFPNLGYIQNHLQVLLLLVFEAIVYRRQEHYRRQHQLAP
  LPAQAVFASGTRQQLDQDLLGCLKYFINFFFYKFGLEICFLMAVNVIGQRMNFLVTLHGC
  WLVAILTRRHRQAIARLWPNYCLFLALFLLYQYLLCLGMPPALCIDYPWRWSRAVPMNSA
  LIKWLYLPDFFRAPNSTNLISDFLLLLCASQQWQVFSAERTEEWQRMAGVNTDRLEPLRG
  EPNPVPNFIHCRSYLDMLKVAVFRYLFWLVLVVVFVTGATRISIFGLGYLLACFYLLLFG
  TALLQRDTRARLVLWDCLILYNVTVIISKNMLSLLACVFVEQMQTGFCWVIQLFSLVCTV
  KGYYDPKEMMDRDQDCLLPVEEAGIIWDSVCFFFLLLQRRVFLSHYYLHVRADLQATALL
  ASRGFALYNAANLKSIDFHRRIEEKSLAQLKRQMERIRAKQEKHRQGRVDRSRPQDTLGP
  KDPGLEPGPDSPGGSSPPRRQWWRPWLDHATVIHSGDYFLFESDSEEEEEAVPEDPRPSA
  QSAFQLAYQAWVTNAQAVLRRRQQEQEQARQEQAGQLPTGGGPSQEVEPAEGPEEAAAGR
  SHVVQRVLSTAQFLWMLGQALVDELTRWLQEFTRHHGTMSDVLRAERYLLTQELLQGGEV
  HRGVLDQLYTSQAEATLPGPTEAPNAPSTVSSGLGAEEPLSSMTDDMGSPLSTGYHTRSG
  SEEAVTDPGEREAGASLYQGLMRTASELLLDRRLRIPELEEAELFAEGQGRALRLLRAVY
  QCVAAHSELLCYFIIILNHMVTASAGSLVLPVLVFLWAMLSIPRPSKRFWMTAIVFTEIA
  VVVKYLFQFGFFPWNSHVVLRRYENKPYFPPRILGLEKTDGYIKYDLVQLMALFFHRSQL
  LCYGLWDHEEDSPSKEHDKSGEEEQGAEEGPGVPAATTEDHIQVEARVGPTDGTPEPQVE
  LRPRDTRRISLRFRRRKKEGPARKGAAAIEAEDREEEEGEEEKEAPTGREKRPSRSGGRV
  RAAGRRLQGFCLSLAQGTYRPLRRFFHDILHTKYRAATDVYALMFLADVVDFIIIIFGFW
  AFGKHSAATDITSSLSDDQVPEAFLVMLLIQFSTMVVDRALYLRKTVLGKLAFQVALVLA
  IHLWMFFILPAVTERMFNQNVVAQLWYFVKCIYFALSAYQIRCGYPTRILGNFLTKKYNH
  LNLFLFQGFRLVPFLVELRAVMDWVWTDTTLSLSSWMCVEDIYANIFIIKCSRETEKKYP
  QPKGQKKKKIVKYGMGGLIILFLIAIIWFPLLFMSLVRSVVGVVNQPIDVTVTLKLGGYE
  PLFTMSAQQPSIIPFTAQAYEELSRQFDPQPLAMQFISQYSPEDIVTAQIEGSSGALWRI
  SPPSRAQMKRELYNGTADITLRFTWNFQRDLAKGGTVEYANEKHMLALAPNSTARRQLAS
  LLEGTSDQSVVIPNLFPKYIRAPNGPEANPVKQLQPNEEADYLGVRIQLRREQGAGATGF
  LEWWVIELQECRTDCNLLPMVIFSDKVSPPSLGFLAGYGIMGLYVSIVLVIGKFVRGFFS
  EISHSIMFEELPCVDRILKLCQDIFLVRETRELELEEELYAKLIFLYRSPETMIKWTREK
  E

• Sequence length: 2521

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	stomatocytic anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	22529292, 23581886
Dehydrated hereditary stomatocytosis	Dehydrated hereditary stomatocytosis	rs774455945, rs1057519076, rs1057519077
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hydrops fetalis	Hydrops Fetalis, Hydrops Fetalis, Non-Immune	rs28935477, rs1131691986
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lymphatic malformation	LYMPHATIC MALFORMATION 6	rs267606847, rs267606846, rs587777566, rs587777567, rs786205669, rs869025596, rs869025597, rs869025598, rs869025599, rs869025600, rs869025601, rs1057519263, rs1057519264, rs587776992, rs934897228, rs1569227576, rs1569133268, rs1569226110, rs1569141899, rs1569124017, rs1562967463, rs1567659736, rs1166021430, rs1584651110, rs1574226259	26387913, 22529292, 30712880, 26333996
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital pectus excavatum	Congenital pectus excavatum
Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema	Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Neck webbing	Neck webbing
Testicular hydrocele	Testicular Hydrocele
Vulval varices	Varicosity		30998689, 30566020
Xerocytosis	Xerocytosis, DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA		22529292, 23581886, 23695678, 23581886, 22529292, 26387913, 23479567, 23695678, 23973043, 23487776