Human Gene PIEZO1 (uc010vpb.2) Description and Page Index
  Description: Homo sapiens piezo-type mechanosensitive ion channel component 1 (PIEZO1), mRNA.
RefSeq Summary (NM_001142864): 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 with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000301015.14/ ENSP00000301015.9 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr16:88,781,746-88,851,372 Size: 69,627 Total Exon Count: 51 Strand: -
Coding Region
   Position: hg19 chr16:88,782,013-88,851,372 Size: 69,360 Coding Exon Count: 51 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:88,781,746-88,851,372)mRNA (may differ from genome)Protein (2521 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PIEZ1_HUMAN
DESCRIPTION: RecName: Full=Piezo-type mechanosensitive ion channel component 1; AltName: Full=Membrane protein induced by beta-amyloid treatment; Short=Mib; AltName: Full=Protein FAM38A;
FUNCTION: Component of mechanosensitive channel required for the mechanosensitive currents. 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.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Cell membrane; Multi-pass membrane protein.
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 disease substantia nigra, not detected in melanin-containing neurons nor in activated astrocytes.
MISCELLANEOUS: Piezo comes from the Greek 'piesi' meaning pressure.
SIMILARITY: Belongs to the PIEZO family.

-  MalaCards Disease Associations
  MalaCards Gene Search: PIEZO1
Diseases sorted by gene-association score: dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema* (1300), lymphedema, hereditary, iii* (900), immune hydrops fetalis (29), hydrops fetalis (11), lymphedema (10), splenic infarction (8), hemolytic anemia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.28 RPKM in Colon - Sigmoid
Total median expression: 796.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -108.80267-0.407 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021999 - DUF3595

Pfam Domains:
PF12166 - Piezo non-specific cation channel, R-Ras-binding domain
PF15917 - Piezo

ModBase Predicted Comparative 3D Structure on Q92508
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005261 cation channel activity
GO:0008381 mechanically-gated ion channel activity

Biological Process:
GO:0006811 ion transport
GO:0006812 cation transport
GO:0033625 positive regulation of integrin activation
GO:0033634 positive regulation of cell-cell adhesion mediated by integrin
GO:0034220 ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0050982 detection of mechanical stimulus
GO:0055085 transmembrane transport
GO:0071260 cellular response to mechanical stimulus
GO:0098655 cation transmembrane transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031258 lamellipodium membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  LF384490 - JP 2014500723-A/191993: Polycomb-Associated Non-Coding RNAs.
AK092007 - Homo sapiens cDNA FLJ34688 fis, clone MESAN2000711.
AX747306 - Sequence 831 from Patent EP1308459.
BC016983 - Homo sapiens family with sequence similarity 38, member A, mRNA (cDNA clone IMAGE:4186028), with apparent retained intron.
BC008073 - Homo sapiens family with sequence similarity 38, member A, mRNA (cDNA clone IMAGE:3029644), complete cds.
BC150271 - Homo sapiens family with sequence similarity 38, member A, mRNA (cDNA clone MGC:166873 IMAGE:9007243), complete cds.
D87071 - Homo sapiens mRNA for KIAA0233 gene, complete cds.
JD336225 - Sequence 317249 from Patent EP1572962.
JD125392 - Sequence 106416 from Patent EP1572962.
BC141877 - Homo sapiens cDNA clone IMAGE:40112012, containing frame-shift errors.
JD339830 - Sequence 320854 from Patent EP1572962.
AB161230 - Homo sapiens mRNA for Mib, complete cds.
KC602455 - Homo sapiens PIEZO1 (PIEZO1) mRNA, complete cds.
AB384448 - Synthetic construct DNA, clone: pF1KA0233, Homo sapiens FAM38A gene for FAM38A protein, complete cds, without stop codon, in Flexi system.
KJ902019 - Synthetic construct Homo sapiens clone ccsbBroadEn_11413 PIEZO1 gene, encodes complete protein.
LF375083 - JP 2014500723-A/182586: Polycomb-Associated Non-Coding RNAs.
CU675919 - Synthetic construct Homo sapiens gateway clone IMAGE:100019131 5' read FAM38A mRNA.
LF375084 - JP 2014500723-A/182587: Polycomb-Associated Non-Coding RNAs.
LF375085 - JP 2014500723-A/182588: Polycomb-Associated Non-Coding RNAs.
LF375087 - JP 2014500723-A/182590: Polycomb-Associated Non-Coding RNAs.
LF375088 - JP 2014500723-A/182591: Polycomb-Associated Non-Coding RNAs.
LF375090 - JP 2014500723-A/182593: Polycomb-Associated Non-Coding RNAs.
LF375091 - JP 2014500723-A/182594: Polycomb-Associated Non-Coding RNAs.
LF375092 - JP 2014500723-A/182595: Polycomb-Associated Non-Coding RNAs.
LF375095 - JP 2014500723-A/182598: Polycomb-Associated Non-Coding RNAs.
LF375096 - JP 2014500723-A/182599: Polycomb-Associated Non-Coding RNAs.
LF375098 - JP 2014500723-A/182601: Polycomb-Associated Non-Coding RNAs.
LF375099 - JP 2014500723-A/182602: Polycomb-Associated Non-Coding RNAs.
LF375100 - JP 2014500723-A/182603: Polycomb-Associated Non-Coding RNAs.
LF375101 - JP 2014500723-A/182604: Polycomb-Associated Non-Coding RNAs.
LF375102 - JP 2014500723-A/182605: Polycomb-Associated Non-Coding RNAs.
LF375104 - JP 2014500723-A/182607: Polycomb-Associated Non-Coding RNAs.
LF375106 - JP 2014500723-A/182609: Polycomb-Associated Non-Coding RNAs.
LF375108 - JP 2014500723-A/182611: Polycomb-Associated Non-Coding RNAs.
LF375110 - JP 2014500723-A/182613: Polycomb-Associated Non-Coding RNAs.
LF375112 - JP 2014500723-A/182615: Polycomb-Associated Non-Coding RNAs.
LF375114 - JP 2014500723-A/182617: Polycomb-Associated Non-Coding RNAs.
LF375115 - JP 2014500723-A/182618: Polycomb-Associated Non-Coding RNAs.
LF375116 - JP 2014500723-A/182619: Polycomb-Associated Non-Coding RNAs.
LF375117 - JP 2014500723-A/182620: Polycomb-Associated Non-Coding RNAs.
LF375119 - JP 2014500723-A/182622: Polycomb-Associated Non-Coding RNAs.
LF375120 - JP 2014500723-A/182623: Polycomb-Associated Non-Coding RNAs.
LF375121 - JP 2014500723-A/182624: Polycomb-Associated Non-Coding RNAs.
LF375122 - JP 2014500723-A/182625: Polycomb-Associated Non-Coding RNAs.
JD119580 - Sequence 100604 from Patent EP1572962.
LF375124 - JP 2014500723-A/182627: Polycomb-Associated Non-Coding RNAs.
LF375125 - JP 2014500723-A/182628: Polycomb-Associated Non-Coding RNAs.
JD060582 - Sequence 41606 from Patent EP1572962.
MA620067 - JP 2018138019-A/191993: Polycomb-Associated Non-Coding RNAs.
MA610660 - JP 2018138019-A/182586: Polycomb-Associated Non-Coding RNAs.
MA610661 - JP 2018138019-A/182587: Polycomb-Associated Non-Coding RNAs.
MA610662 - JP 2018138019-A/182588: Polycomb-Associated Non-Coding RNAs.
MA610664 - JP 2018138019-A/182590: Polycomb-Associated Non-Coding RNAs.
MA610665 - JP 2018138019-A/182591: Polycomb-Associated Non-Coding RNAs.
MA610667 - JP 2018138019-A/182593: Polycomb-Associated Non-Coding RNAs.
MA610668 - JP 2018138019-A/182594: Polycomb-Associated Non-Coding RNAs.
MA610669 - JP 2018138019-A/182595: Polycomb-Associated Non-Coding RNAs.
MA610672 - JP 2018138019-A/182598: Polycomb-Associated Non-Coding RNAs.
MA610673 - JP 2018138019-A/182599: Polycomb-Associated Non-Coding RNAs.
MA610675 - JP 2018138019-A/182601: Polycomb-Associated Non-Coding RNAs.
MA610676 - JP 2018138019-A/182602: Polycomb-Associated Non-Coding RNAs.
MA610677 - JP 2018138019-A/182603: Polycomb-Associated Non-Coding RNAs.
MA610678 - JP 2018138019-A/182604: Polycomb-Associated Non-Coding RNAs.
MA610679 - JP 2018138019-A/182605: Polycomb-Associated Non-Coding RNAs.
MA610681 - JP 2018138019-A/182607: Polycomb-Associated Non-Coding RNAs.
MA610683 - JP 2018138019-A/182609: Polycomb-Associated Non-Coding RNAs.
MA610685 - JP 2018138019-A/182611: Polycomb-Associated Non-Coding RNAs.
MA610687 - JP 2018138019-A/182613: Polycomb-Associated Non-Coding RNAs.
MA610689 - JP 2018138019-A/182615: Polycomb-Associated Non-Coding RNAs.
MA610691 - JP 2018138019-A/182617: Polycomb-Associated Non-Coding RNAs.
MA610692 - JP 2018138019-A/182618: Polycomb-Associated Non-Coding RNAs.
MA610693 - JP 2018138019-A/182619: Polycomb-Associated Non-Coding RNAs.
MA610694 - JP 2018138019-A/182620: Polycomb-Associated Non-Coding RNAs.
MA610696 - JP 2018138019-A/182622: Polycomb-Associated Non-Coding RNAs.
MA610697 - JP 2018138019-A/182623: Polycomb-Associated Non-Coding RNAs.
MA610698 - JP 2018138019-A/182624: Polycomb-Associated Non-Coding RNAs.
MA610699 - JP 2018138019-A/182625: Polycomb-Associated Non-Coding RNAs.
MA610701 - JP 2018138019-A/182627: Polycomb-Associated Non-Coding RNAs.
MA610702 - JP 2018138019-A/182628: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NHT9, A7E2B7, FAM38A, KIAA0233, NM_001142864, NP_001136336, PIEZ1_HUMAN, Q0KKZ9, Q92508
UCSC ID: uc010vpb.2
RefSeq Accession: NM_001142864
Protein: Q92508 (aka PIEZ1_HUMAN)
CCDS: CCDS54058.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001142864.2
exon count: 51CDS single in 3' UTR: no RNA size: 7833
ORF size: 7566CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 13818.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.