Human Gene PIEZO1 (uc002flp.4) 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 chr16:88,781,746-88,785,149 Size: 3,404 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr16:88,782,013-88,783,643 Size: 1,631 Coding Exon Count: 7 

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 (chr16:88,781,746-88,785,149)mRNA (may differ from genome)Protein (372 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS

-  Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Piezo-type mechanosensitive ion channel component 1;
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
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-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -536.431506-0.356 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 E7EUT2
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    
 Protein Sequence    

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

Biological Process:
GO:0055085 transmembrane transport

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane

-  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.
JD213446 - Sequence 194470 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.

-  Other Names for This Gene
  Alternate Gene Symbols: BC016983, E7EUT2, E7EUT2_HUMAN
UCSC ID: uc002flp.4
RefSeq Accession: NM_001142864
Protein: E7EUT2

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: BC016983.1
exon count: 7CDS single in 3' UTR: no RNA size: 2904
ORF size: 1119CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 1227.00frame shift in genome: no % Coverage: 99.31
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 1530# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.