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Q92508

- PIEZ1_HUMAN

UniProt

Q92508 - PIEZ1_HUMAN

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Protein

Piezo-type mechanosensitive ion channel component 1

Gene

PIEZO1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Pore-forming subunit of a mechanosensitive non-specific cation channel. Generates currents characterized by a linear current-voltage relationship and are sensitive to ruthenium red and gadolinium. 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. In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensors that promote endothelial cell organization and alignment in the direction of blood flow. Plays a key role in blood vessel formation and vascular structure in both development and adult physiology.By similarity1 Publication

GO - Molecular functioni

  1. cation channel activity Source: UniProtKB
  2. mechanically-gated ion channel activity Source: Ensembl

GO - Biological processi

  1. cation transmembrane transport Source: GOC
  2. cation transport Source: UniProtKB
  3. detection of mechanical stimulus Source: Ensembl
  4. positive regulation of cell-cell adhesion mediated by integrin Source: UniProtKB
  5. positive regulation of integrin activation Source: UniProtKB
  6. regulation of membrane potential Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Protein family/group databases

TCDBi1.A.75.1.1. the mechanical nociceptor, piezo (piezo) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Piezo-type mechanosensitive ion channel component 1
Alternative name(s):
Membrane protein induced by beta-amyloid treatment
Short name:
Mib
Protein FAM38A
Gene namesi
Name:PIEZO1
Synonyms:FAM38A, KIAA0233
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:28993. PIEZO1.

Subcellular locationi

Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Cell membrane By similarity; Multi-pass membrane protein
Note: In erythrocytes, located in the plasma membrane. In response to shear stress there is an accumulation at the leading apical lamellipodia.1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]: An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry. All disease-causing mutations characterized so far produce a gain-of-function phenotype, mutated channels exhibiting increased cation transport in erythroid cells, that could be due to slower channel inactivation rate compared to the wild-type protein.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti718 – 7181G → S in DHS. 1 Publication
VAR_069822
Natural varianti782 – 7821G → S in DHS. 1 Publication
VAR_069823
Natural varianti808 – 8081R → Q in DHS. 1 Publication
VAR_069824
Natural varianti1117 – 11171S → L in DHS. 1 Publication
VAR_069825
Natural varianti1358 – 13581R → P in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 1 Publication
VAR_069826
Natural varianti2003 – 20031A → D in DHS. 1 Publication
VAR_069827
Natural varianti2020 – 20201A → T in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 1 Publication
VAR_069828
Natural varianti2020 – 20201A → V in DHS. 1 Publication
VAR_069829
Natural varianti2127 – 21271T → M in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 2 Publications
VAR_069830
Natural varianti2166 – 21694Missing in DHS. 1 Publication
VAR_069831
Natural varianti2225 – 22251M → R in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 2 Publications
VAR_069832
Natural varianti2456 – 24561R → H in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 5 Publications
VAR_069833
Natural varianti2488 – 24881R → Q in DHS; increased cation transport in erythroid cells. 1 Publication
VAR_069834
Natural varianti2496 – 24961E → ELE in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents.
VAR_069835

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi2456 – 24561R → K: Does not inactivate the protein. gives rise to mechanically activated currents that inactivate more slowly than wild-type currents, suggesting it could shift the channel kinetics from phasic to tonic. 1 Publication

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

MIMi194380. phenotype.
Orphaneti3202. Dehydrated hereditary stomatocytosis.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 25212521Piezo-type mechanosensitive ion channel component 1PRO_0000186817Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi295 – 2951N-linked (GlcNAc...)Sequence Analysis
Modified residuei1391 – 13911Phosphoserine2 Publications
Modified residuei1646 – 16461Phosphoserine3 Publications
Modified residuei1854 – 18541Phosphothreonine1 Publication
Glycosylationi2294 – 22941N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ92508.
PaxDbiQ92508.
PRIDEiQ92508.

PTM databases

PhosphoSiteiQ92508.

Expressioni

Tissue specificityi

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 disease substantia nigra, not detected in melanin-containing neurons nor in activated astrocytes. Expressed in erythrocytes (at protein level).3 Publications

Developmental stagei

At 17 weeks of gestation, strongly expressed in hepatic erythroblasts. At that stage, also expressed in fetal splenic plasma cells and in lymphatic vessel of fetal peritoneum. In vitro, up-regulated during the erythroid differentiation of CD34+ cells from healthy donors (at protein level).1 Publication

Gene expression databases

BgeeiQ92508.
CleanExiHS_FAM38A.
ExpressionAtlasiQ92508. baseline.
GenevestigatoriQ92508.

Organism-specific databases

HPAiHPA047185.

Interactioni

Subunit structurei

Homooligomer, most likely homotetramer. Interacts with PKD2. Interacts with STOML3.By similarity

Protein-protein interaction databases

BioGridi115124. 4 interactions.
MINTiMINT-4991257.
STRINGi9606.ENSP00000301015.

Structurei

3D structure databases

ProteinModelPortaliQ92508.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei5 – 2521HelicalSequence AnalysisAdd
BLAST
Transmembranei27 – 4721HelicalSequence AnalysisAdd
BLAST
Transmembranei64 – 8421HelicalSequence AnalysisAdd
BLAST
Transmembranei118 – 13821HelicalSequence AnalysisAdd
BLAST
Transmembranei194 – 21421HelicalSequence AnalysisAdd
BLAST
Transmembranei218 – 23821HelicalSequence AnalysisAdd
BLAST
Transmembranei248 – 26821HelicalSequence AnalysisAdd
BLAST
Transmembranei302 – 32221HelicalSequence AnalysisAdd
BLAST
Transmembranei428 – 44821HelicalSequence AnalysisAdd
BLAST
Transmembranei460 – 48021HelicalSequence AnalysisAdd
BLAST
Transmembranei514 – 53421HelicalSequence AnalysisAdd
BLAST
Transmembranei579 – 59921HelicalSequence AnalysisAdd
BLAST
Transmembranei602 – 62221HelicalSequence AnalysisAdd
BLAST
Transmembranei629 – 64921HelicalSequence AnalysisAdd
BLAST
Transmembranei681 – 70121HelicalSequence AnalysisAdd
BLAST
Transmembranei823 – 84321HelicalSequence AnalysisAdd
BLAST
Transmembranei852 – 87221HelicalSequence AnalysisAdd
BLAST
Transmembranei926 – 94621HelicalSequence AnalysisAdd
BLAST
Transmembranei987 – 100721HelicalSequence AnalysisAdd
BLAST
Transmembranei1043 – 106321HelicalSequence AnalysisAdd
BLAST
Transmembranei1160 – 118021HelicalSequence AnalysisAdd
BLAST
Transmembranei1184 – 120421HelicalSequence AnalysisAdd
BLAST
Transmembranei1218 – 124023HelicalSequence AnalysisAdd
BLAST
Transmembranei1247 – 126418HelicalSequence AnalysisAdd
BLAST
Transmembranei1277 – 129721HelicalSequence AnalysisAdd
BLAST
Transmembranei1678 – 169821HelicalSequence AnalysisAdd
BLAST
Transmembranei1700 – 172021HelicalSequence AnalysisAdd
BLAST
Transmembranei1734 – 175421HelicalSequence AnalysisAdd
BLAST
Transmembranei1962 – 198221HelicalSequence AnalysisAdd
BLAST
Transmembranei2003 – 202321HelicalSequence AnalysisAdd
BLAST
Transmembranei2032 – 205221HelicalSequence AnalysisAdd
BLAST
Transmembranei2061 – 208121HelicalSequence AnalysisAdd
BLAST
Transmembranei2100 – 212223HelicalSequence AnalysisAdd
BLAST
Transmembranei2129 – 214921HelicalSequence AnalysisAdd
BLAST
Transmembranei2177 – 219721HelicalSequence AnalysisAdd
BLAST
Transmembranei2432 – 245221HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1339 – 136830Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi6 – 9186Leu-richAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG298938.
GeneTreeiENSGT00390000013029.
HOVERGENiHBG107901.
InParanoidiQ92508.
OMAiHEYSSNC.
OrthoDBiEOG7J445T.
PhylomeDBiQ92508.
TreeFamiTF314295.

Family and domain databases

InterProiIPR027272. Piezo.
[Graphical view]
PANTHERiPTHR13167. PTHR13167. 1 hit.
PfamiPF12166. DUF3595. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q92508 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEPHVLGAVL YWLLLPCALL AACLLRFSGL SLVYLLFLLL LPWFPGPTRC
60 70 80 90 100
GLQGHTGRLL RALLGLSLLF LVAHLALQIC LHIVPRLDQL LGPSCSRWET
110 120 130 140 150
LSRHIGVTRL DLKDIPNAIR LVAPDLGILV VSSVCLGICG RLARNTRQSP
160 170 180 190 200
HPRELDDDER DVDASPTAGL QEAATLAPTR RSRLAARFRV TAHWLLVAAG
210 220 230 240 250
RVLAVTLLAL AGIAHPSALS SVYLLLFLAL CTWWACHFPI STRGFSRLCV
260 270 280 290 300
AVGCFGAGHL ICLYCYQMPL AQALLPPAGI WARVLGLKDF VGPTNCSSPH
310 320 330 340 350
ALVLNTGLDW PVYASPGVLL LLCYATASLR KLRAYRPSGQ RKEAAKGYEA
360 370 380 390 400
RELELAELDQ WPQERESDQH VVPTAPDTEA DNCIVHELTG QSSVLRRPVR
410 420 430 440 450
PKRAEPREAS PLHSLGHLIM DQSYVCALIA MMVWSITYHS WLTFVLLLWA
460 470 480 490 500
CLIWTVRSRH QLAMLCSPCI LLYGMTLCCL RYVWAMDLRP ELPTTLGPVS
510 520 530 540 550
LRQLGLEHTR YPCLDLGAML LYTLTFWLLL RQFVKEKLLK WAESPAALTE
560 570 580 590 600
VTVADTEPTR TQTLLQSLGE LVKGVYAKYW IYVCAGMFIV VSFAGRLVVY
610 620 630 640 650
KIVYMFLFLL CLTLFQVYYS LWRKLLKAFW WLVVAYTMLV LIAVYTFQFQ
660 670 680 690 700
DFPAYWRNLT GFTDEQLGDL GLEQFSVSEL FSSILVPGFF LLACILQLHY
710 720 730 740 750
FHRPFMQLTD MEHVSLPGTR LPRWAHRQDA VSGTPLLREE QQEHQQQQQE
760 770 780 790 800
EEEEEEDSRD EGLGVATPHQ ATQVPEGAAK WGLVAERLLE LAAGFSDVLS
810 820 830 840 850
RVQVFLRRLL ELHVFKLVAL YTVWVALKEV SVMNLLLVVL WAFALPYPRF
860 870 880 890 900
RPMASCLSTV WTCVIIVCKM LYQLKVVNPQ EYSSNCTEPF PNSTNLLPTE
910 920 930 940 950
ISQSLLYRGP VDPANWFGVR KGFPNLGYIQ NHLQVLLLLV FEAIVYRRQE
960 970 980 990 1000
HYRRQHQLAP LPAQAVFASG TRQQLDQDLL GCLKYFINFF FYKFGLEICF
1010 1020 1030 1040 1050
LMAVNVIGQR MNFLVTLHGC WLVAILTRRH RQAIARLWPN YCLFLALFLL
1060 1070 1080 1090 1100
YQYLLCLGMP PALCIDYPWR WSRAVPMNSA LIKWLYLPDF FRAPNSTNLI
1110 1120 1130 1140 1150
SDFLLLLCAS QQWQVFSAER TEEWQRMAGV NTDRLEPLRG EPNPVPNFIH
1160 1170 1180 1190 1200
CRSYLDMLKV AVFRYLFWLV LVVVFVTGAT RISIFGLGYL LACFYLLLFG
1210 1220 1230 1240 1250
TALLQRDTRA RLVLWDCLIL YNVTVIISKN MLSLLACVFV EQMQTGFCWV
1260 1270 1280 1290 1300
IQLFSLVCTV KGYYDPKEMM DRDQDCLLPV EEAGIIWDSV CFFFLLLQRR
1310 1320 1330 1340 1350
VFLSHYYLHV RADLQATALL ASRGFALYNA ANLKSIDFHR RIEEKSLAQL
1360 1370 1380 1390 1400
KRQMERIRAK QEKHRQGRVD RSRPQDTLGP KDPGLEPGPD SPGGSSPPRR
1410 1420 1430 1440 1450
QWWRPWLDHA TVIHSGDYFL FESDSEEEEE AVPEDPRPSA QSAFQLAYQA
1460 1470 1480 1490 1500
WVTNAQAVLR RRQQEQEQAR QEQAGQLPTG GGPSQEVEPA EGPEEAAAGR
1510 1520 1530 1540 1550
SHVVQRVLST AQFLWMLGQA LVDELTRWLQ EFTRHHGTMS DVLRAERYLL
1560 1570 1580 1590 1600
TQELLQGGEV HRGVLDQLYT SQAEATLPGP TEAPNAPSTV SSGLGAEEPL
1610 1620 1630 1640 1650
SSMTDDMGSP LSTGYHTRSG SEEAVTDPGE REAGASLYQG LMRTASELLL
1660 1670 1680 1690 1700
DRRLRIPELE EAELFAEGQG RALRLLRAVY QCVAAHSELL CYFIIILNHM
1710 1720 1730 1740 1750
VTASAGSLVL PVLVFLWAML SIPRPSKRFW MTAIVFTEIA VVVKYLFQFG
1760 1770 1780 1790 1800
FFPWNSHVVL RRYENKPYFP PRILGLEKTD GYIKYDLVQL MALFFHRSQL
1810 1820 1830 1840 1850
LCYGLWDHEE DSPSKEHDKS GEEEQGAEEG PGVPAATTED HIQVEARVGP
1860 1870 1880 1890 1900
TDGTPEPQVE LRPRDTRRIS LRFRRRKKEG PARKGAAAIE AEDREEEEGE
1910 1920 1930 1940 1950
EEKEAPTGRE KRPSRSGGRV RAAGRRLQGF CLSLAQGTYR PLRRFFHDIL
1960 1970 1980 1990 2000
HTKYRAATDV YALMFLADVV DFIIIIFGFW AFGKHSAATD ITSSLSDDQV
2010 2020 2030 2040 2050
PEAFLVMLLI QFSTMVVDRA LYLRKTVLGK LAFQVALVLA IHLWMFFILP
2060 2070 2080 2090 2100
AVTERMFNQN VVAQLWYFVK CIYFALSAYQ IRCGYPTRIL GNFLTKKYNH
2110 2120 2130 2140 2150
LNLFLFQGFR LVPFLVELRA VMDWVWTDTT LSLSSWMCVE DIYANIFIIK
2160 2170 2180 2190 2200
CSRETEKKYP QPKGQKKKKI VKYGMGGLII LFLIAIIWFP LLFMSLVRSV
2210 2220 2230 2240 2250
VGVVNQPIDV TVTLKLGGYE PLFTMSAQQP SIIPFTAQAY EELSRQFDPQ
2260 2270 2280 2290 2300
PLAMQFISQY SPEDIVTAQI EGSSGALWRI SPPSRAQMKR ELYNGTADIT
2310 2320 2330 2340 2350
LRFTWNFQRD LAKGGTVEYA NEKHMLALAP NSTARRQLAS LLEGTSDQSV
2360 2370 2380 2390 2400
VIPNLFPKYI RAPNGPEANP VKQLQPNEEA DYLGVRIQLR REQGAGATGF
2410 2420 2430 2440 2450
LEWWVIELQE CRTDCNLLPM VIFSDKVSPP SLGFLAGYGI MGLYVSIVLV
2460 2470 2480 2490 2500
IGKFVRGFFS EISHSIMFEE LPCVDRILKL CQDIFLVRET RELELEEELY
2510 2520
AKLIFLYRSP ETMIKWTREK E
Length:2,521
Mass (Da):286,790
Last modified:January 11, 2011 - v4
Checksum:i127A3DA3E7CBD2DD
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti750 – 7501Missing in BAA13240. (PubMed:9039502)Curated
Sequence conflicti750 – 7501Missing in AAI50272. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti718 – 7181G → S in DHS. 1 Publication
VAR_069822
Natural varianti782 – 7821G → S in DHS. 1 Publication
VAR_069823
Natural varianti808 – 8081R → Q in DHS. 1 Publication
VAR_069824
Natural varianti1117 – 11171S → L in DHS. 1 Publication
VAR_069825
Natural varianti1358 – 13581R → P in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 1 Publication
VAR_069826
Natural varianti2003 – 20031A → D in DHS. 1 Publication
VAR_069827
Natural varianti2020 – 20201A → T in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 1 Publication
VAR_069828
Natural varianti2020 – 20201A → V in DHS. 1 Publication
VAR_069829
Natural varianti2127 – 21271T → M in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 2 Publications
VAR_069830
Natural varianti2166 – 21694Missing in DHS. 1 Publication
VAR_069831
Natural varianti2225 – 22251M → R in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 2 Publications
VAR_069832
Natural varianti2456 – 24561R → H in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. 5 Publications
VAR_069833
Natural varianti2488 – 24881R → Q in DHS; increased cation transport in erythroid cells. 1 Publication
VAR_069834
Natural varianti2496 – 24961E → ELE in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents.
VAR_069835

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC138028 Genomic DNA. No translation available.
AB161230 mRNA. Translation: BAF03565.1.
D87071 mRNA. Translation: BAA13240.1.
BC150271 mRNA. Translation: AAI50272.1.
CCDSiCCDS54058.1.
RefSeqiNP_001136336.2. NM_001142864.2.
UniGeneiHs.377001.
Hs.592074.

Genome annotation databases

EnsembliENST00000301015; ENSP00000301015; ENSG00000103335.
GeneIDi9780.
KEGGihsa:9780.
UCSCiuc010vpb.2. human.

Polymorphism databases

DMDMi317373533.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC138028 Genomic DNA. No translation available.
AB161230 mRNA. Translation: BAF03565.1 .
D87071 mRNA. Translation: BAA13240.1 .
BC150271 mRNA. Translation: AAI50272.1 .
CCDSi CCDS54058.1.
RefSeqi NP_001136336.2. NM_001142864.2.
UniGenei Hs.377001.
Hs.592074.

3D structure databases

ProteinModelPortali Q92508.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115124. 4 interactions.
MINTi MINT-4991257.
STRINGi 9606.ENSP00000301015.

Protein family/group databases

TCDBi 1.A.75.1.1. the mechanical nociceptor, piezo (piezo) family.

PTM databases

PhosphoSitei Q92508.

Polymorphism databases

DMDMi 317373533.

Proteomic databases

MaxQBi Q92508.
PaxDbi Q92508.
PRIDEi Q92508.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000301015 ; ENSP00000301015 ; ENSG00000103335 .
GeneIDi 9780.
KEGGi hsa:9780.
UCSCi uc010vpb.2. human.

Organism-specific databases

CTDi 9780.
GeneCardsi GC16M088781.
H-InvDB HIX0022749.
HIX0173225.
HGNCi HGNC:28993. PIEZO1.
HPAi HPA047185.
MIMi 194380. phenotype.
611184. gene.
neXtProti NX_Q92508.
Orphaneti 3202. Dehydrated hereditary stomatocytosis.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG298938.
GeneTreei ENSGT00390000013029.
HOVERGENi HBG107901.
InParanoidi Q92508.
OMAi HEYSSNC.
OrthoDBi EOG7J445T.
PhylomeDBi Q92508.
TreeFami TF314295.

Miscellaneous databases

GenomeRNAii 9780.
NextBioi 36824.
PROi Q92508.
SOURCEi Search...

Gene expression databases

Bgeei Q92508.
CleanExi HS_FAM38A.
ExpressionAtlasi Q92508. baseline.
Genevestigatori Q92508.

Family and domain databases

InterProi IPR027272. Piezo.
[Graphical view ]
PANTHERi PTHR13167. PTHR13167. 1 hit.
Pfami PF12166. DUF3595. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "A novel membrane protein, encoded by the gene covering KIAA0233, is transcriptionally induced in senile plaque-associated astrocytes."
    Satoh K., Hata M., Takahara S., Tsuzaki H., Yokota H., Akatsu H., Yamamoto T., Kosaka K., Yamada T.
    Brain Res. 1108:19-27(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 432-2521, TISSUE SPECIFICITY.
  3. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."
    Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
    DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 486-2521.
    Tissue: Bone marrow.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 486-2521.
  5. "Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis."
    Zarychanski R., Schulz V.P., Houston B.L., Maksimova Y., Houston D.S., Smith B., Rinehart J., Gallagher P.G.
    Blood 120:1908-1915(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 955-972; 1324-1334; 1548-1562 AND 1656-1671, VARIANTS DHS ARG-2225 AND HIS-2456, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1391; SER-1646 AND THR-1854, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
    Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
    Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-2294.
    Tissue: Leukemic T-cell.
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1646, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  10. "Integrin activation by Fam38A uses a novel mechanism of R-Ras targeting to the endoplasmic reticulum."
    McHugh B.J., Buttery R., Lad Y., Banks S., Haslett C., Sethi T.
    J. Cell Sci. 123:51-61(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1391 AND SER-1646, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: SUBCELLULAR LOCATION.
  13. Cited for: VARIANTS DHS SER-718; SER-782; GLN-808; LEU-1117; ASP-2003; VAL-2020; MET-2127; 2166-LYS--LYS-2169 DEL; HIS-2456 AND GLN-2488, CHARACTERIZATION OF VARIANTS DHS HIS-2456 AND GLN-2488, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  14. Cited for: VARIANTS DHS PRO-1358; THR-2020; MET-2127 AND LEU-GLU-2496 INS, CHARACTERIZATION OF VARIANTS DHS PRO-1358; THR-2020; MET-2127; LEU-GLU-2496 INS; ARG-2225 AND HIS-2456.
  15. "Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1."
    Bae C., Gnanasambandam R., Nicolai C., Sachs F., Gottlieb P.A.
    Proc. Natl. Acad. Sci. U.S.A. 110:E1162-1168(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DHS ARG-2225 AND HIS-2456, CHARACTERIZATION OF VARIANTS DHS ARG-2225 AND HIS-2456, MUTAGENESIS OF ARG-2456.
  16. "Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report."
    Shmukler B.E., Vandorpe D.H., Rivera A., Auerbach M., Brugnara C., Alper S.L.
    Blood Cells Mol. Dis. 52:53-54(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DHS HIS-2456.
  17. "Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops."
    Beneteau C., Thierry G., Blesson S., Le Vaillant C., Picard V., Bene M.C., Eveillard M., Le Caignec C.
    Clin. Genet. 85:293-295(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DHS HIS-2456.

Entry informationi

Entry nameiPIEZ1_HUMAN
AccessioniPrimary (citable) accession number: Q92508
Secondary accession number(s): A6NHT9, A7E2B7, Q0KKZ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: January 11, 2011
Last modified: October 29, 2014
This is version 117 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Piezo comes from the Greek 'piesi' meaning pressure.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3