Human Gene PIEZO1 (uc010cib.3) 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr16:88,781,746-88,802,816 Size: 21,071 Total Exon Count: 26 Strand: -
Coding Region
   Position: hg19 chr16:88,782,013-88,802,723 Size: 20,711 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:88,781,746-88,802,816)mRNA (may differ from genome)Protein (1384 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: J3KQT3_HUMAN
DESCRIPTION: SubName: Full=Piezo-type mechanosensitive ion channel component 1; Flags: Fragment;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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
5' UTR -30.1093-0.324 Picture PostScript Text
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

ModBase Predicted Comparative 3D Structure on J3KQT3
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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  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.
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.
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.
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.

-  Other Names for This Gene
  Alternate Gene Symbols: BC141877, J3KQT3, J3KQT3_HUMAN, NM_001142864, NP_001136336
UCSC ID: uc010cib.3
RefSeq Accession: NM_001142864
Protein: J3KQT3

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC141877.1
exon count: 26CDS single in 3' UTR: no RNA size: 4202
ORF size: 4155CDS single in intron: no Alignment % ID: 99.88
txCdsPredict score: 8300.00frame shift in genome: no % Coverage: 99.43
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.