• Gene id: 9780

Gene Summary

• Gene Symbol: PIEZO1   Gene   UCSC   Ensembl
• Aliases: DHS, FAM38A, LMPH3, LMPHM6, Mib
• Gene name: piezo type mechanosensitive ion channel component 1
• Alternate names: piezo-type mechanosensitive ion channel component 1, family with sequence similarity 38, member A, membrane protein induced by beta-amyloid treatment,
• Gene location: 16q24.3 (88785219: 88715337)     Exons: 51     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 608511

Protein Summary

• Protein general information: Q92508  
  • Name: Piezo type mechanosensitive ion channel component 1 (Membrane protein induced by beta amyloid treatment) (Mib) (Protein FAM38A)
  • Length: 2521  
  • Mass: 286790
  • Tissue specificity: Expressed in numerous tissues. In normal brain, expressed exclusively in neurons, not in astrocytes. In Alzheimer disease brains, expressed in about half of the activated astrocytes located around classical senile plaques. In Parkinson
• Sequence:

  MEPHVLGAVLYWLLLPCALLAACLLRFSGLSLVYLLFLLLLPWFPGPTRCGLQGHTGRLLRALLGLSLLFLVAHL
  ALQICLHIVPRLDQLLGPSCSRWETLSRHIGVTRLDLKDIPNAIRLVAPDLGILVVSSVCLGICGRLARNTRQSP
  HPRELDDDERDVDASPTAGLQEAATLAPTRRSRLAARFRVTAHWLLVAAGRVLAVTLLALAGIAHPSALSSVYLL
  LFLALCTWWACHFPISTRGFSRLCVAVGCFGAGHLICLYCYQMPLAQALLPPAGIWARVLGLKDFVGPTNCSSPH
  ALVLNTGLDWPVYASPGVLLLLCYATASLRKLRAYRPSGQRKEAAKGYEARELELAELDQWPQERESDQHVVPTA
  PDTEADNCIVHELTGQSSVLRRPVRPKRAEPREASPLHSLGHLIMDQSYVCALIAMMVWSITYHSWLTFVLLLWA
  CLIWTVRSRHQLAMLCSPCILLYGMTLCCLRYVWAMDLRPELPTTLGPVSLRQLGLEHTRYPCLDLGAMLLYTLT
  FWLLLRQFVKEKLLKWAESPAALTEVTVADTEPTRTQTLLQSLGELVKGVYAKYWIYVCAGMFIVVSFAGRLVVY
  KIVYMFLFLLCLTLFQVYYSLWRKLLKAFWWLVVAYTMLVLIAVYTFQFQDFPAYWRNLTGFTDEQLGDLGLEQF
  SVSELFSSILVPGFFLLACILQLHYFHRPFMQLTDMEHVSLPGTRLPRWAHRQDAVSGTPLLREEQQEHQQQQQE
  EEEEEEDSRDEGLGVATPHQATQVPEGAAKWGLVAERLLELAAGFSDVLSRVQVFLRRLLELHVFKLVALYTVWV
  ALKEVSVMNLLLVVLWAFALPYPRFRPMASCLSTVWTCVIIVCKMLYQLKVVNPQEYSSNCTEPFPNSTNLLPTE
  ISQSLLYRGPVDPANWFGVRKGFPNLGYIQNHLQVLLLLVFEAIVYRRQEHYRRQHQLAPLPAQAVFASGTRQQL
  DQDLLGCLKYFINFFFYKFGLEICFLMAVNVIGQRMNFLVTLHGCWLVAILTRRHRQAIARLWPNYCLFLALFLL
  YQYLLCLGMPPALCIDYPWRWSRAVPMNSALIKWLYLPDFFRAPNSTNLISDFLLLLCASQQWQVFSAERTEEWQ
  RMAGVNTDRLEPLRGEPNPVPNFIHCRSYLDMLKVAVFRYLFWLVLVVVFVTGATRISIFGLGYLLACFYLLLFG
  TALLQRDTRARLVLWDCLILYNVTVIISKNMLSLLACVFVEQMQTGFCWVIQLFSLVCTVKGYYDPKEMMDRDQD
  CLLPVEEAGIIWDSVCFFFLLLQRRVFLSHYYLHVRADLQATALLASRGFALYNAANLKSIDFHRRIEEKSLAQL
  KRQMERIRAKQEKHRQGRVDRSRPQDTLGPKDPGLEPGPDSPGGSSPPRRQWWRPWLDHATVIHSGDYFLFESDS
  EEEEEAVPEDPRPSAQSAFQLAYQAWVTNAQAVLRRRQQEQEQARQEQAGQLPTGGGPSQEVEPAEGPEEAAAGR
  SHVVQRVLSTAQFLWMLGQALVDELTRWLQEFTRHHGTMSDVLRAERYLLTQELLQGGEVHRGVLDQLYTSQAEA
  TLPGPTEAPNAPSTVSSGLGAEEPLSSMTDDMGSPLSTGYHTRSGSEEAVTDPGEREAGASLYQGLMRTASELLL
  DRRLRIPELEEAELFAEGQGRALRLLRAVYQCVAAHSELLCYFIIILNHMVTASAGSLVLPVLVFLWAMLSIPRP
  SKRFWMTAIVFTEIAVVVKYLFQFGFFPWNSHVVLRRYENKPYFPPRILGLEKTDGYIKYDLVQLMALFFHRSQL
  LCYGLWDHEEDSPSKEHDKSGEEEQGAEEGPGVPAATTEDHIQVEARVGPTDGTPEPQVELRPRDTRRISLRFRR
  RKKEGPARKGAAAIEAEDREEEEGEEEKEAPTGREKRPSRSGGRVRAAGRRLQGFCLSLAQGTYRPLRRFFHDIL
  HTKYRAATDVYALMFLADVVDFIIIIFGFWAFGKHSAATDITSSLSDDQVPEAFLVMLLIQFSTMVVDRALYLRK
  TVLGKLAFQVALVLAIHLWMFFILPAVTERMFNQNVVAQLWYFVKCIYFALSAYQIRCGYPTRILGNFLTKKYNH
  LNLFLFQGFRLVPFLVELRAVMDWVWTDTTLSLSSWMCVEDIYANIFIIKCSRETEKKYPQPKGQKKKKIVKYGM
  GGLIILFLIAIIWFPLLFMSLVRSVVGVVNQPIDVTVTLKLGGYEPLFTMSAQQPSIIPFTAQAYEELSRQFDPQ
  PLAMQFISQYSPEDIVTAQIEGSSGALWRISPPSRAQMKRELYNGTADITLRFTWNFQRDLAKGGTVEYANEKHM
  LALAPNSTARRQLASLLEGTSDQSVVIPNLFPKYIRAPNGPEANPVKQLQPNEEADYLGVRIQLRREQGAGATGF
  LEWWVIELQECRTDCNLLPMVIFSDKVSPPSLGFLAGYGIMGLYVSIVLVIGKFVRGFFSEISHSIMFEELPCVD
  RILKLCQDIFLVRETRELELEEELYAKLIFLYRSPETMIKWTREKE

• Structural information:
  • Interpro: IPR027272  IPR031805  IPR031334  
  • STRING: ENSP00000301015
• Other Databases: GeneCards:  PIEZO1  Malacards:  PIEZO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0071260	cellular response to mechanical stimulus	IBA	biological process
GO:0005261	cation channel activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0008381	mechanosensitive ion channel activity	IBA	molecular function
GO:0050982	detection of mechanical stimulus	IBA	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0008381	mechanosensitive ion channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:0031258	lamellipodium membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0006812	cation transport	ISS	biological process
GO:0005261	cation channel activity	ISS	molecular function
GO:0033634	positive regulation of cell-cell adhesion mediated by integrin	IMP	biological process
GO:0033625	positive regulation of integrin activation	IMP	biological process

Diseases

Associated diseases	References
Hereditary stomatocytosis	KEGG:H00232
Hereditary lymphedema	KEGG:H00535
Dehydrated hereditary stomatocytosis	KEGG:H01978
Familial pseudohyperkalemia	KEGG:H02001
Hereditary stomatocytosis	KEGG:H00232
Hereditary lymphedema	KEGG:H00535
Dehydrated hereditary stomatocytosis	KEGG:H01978
Familial pseudohyperkalemia	KEGG:H02001
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq