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Aliases for PIEZO1 Gene

Aliases for PIEZO1 Gene

  • Piezo Type Mechanosensitive Ion Channel Component 1 2 3
  • Piezo-Type Mechanosensitive Ion Channel Component 1 2 5
  • Membrane Protein Induced By Beta-Amyloid Treatment 3 4
  • Family With Sequence Similarity 38, Member A 2 3
  • FAM38A 3 4
  • MIB 3 4
  • Protein FAM38A 4
  • KIAA0233 4
  • LMPH3 3
  • DHS 3

External Ids for PIEZO1 Gene

Previous HGNC Symbols for PIEZO1 Gene

  • FAM38A

Summaries for PIEZO1 Gene

Entrez Gene Summary for PIEZO1 Gene

  • 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]

GeneCards Summary for PIEZO1 Gene

PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1) is a Protein Coding gene. Diseases associated with PIEZO1 include dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema and immune hydrops fetalis. GO annotations related to this gene include cation channel activity and mechanically-gated ion channel activity. An important paralog of this gene is PIEZO2.

UniProtKB/Swiss-Prot for PIEZO1 Gene

  • Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed:23479567, PubMed:23695678). Generates currents characterized by a linear current-voltage relationship that 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 (PubMed:20016066). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity).

Tocris Summary for PIEZO1 Gene

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIEZO1 Gene

Genomics for PIEZO1 Gene

Regulatory Elements for PIEZO1 Gene

Enhancers for PIEZO1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PIEZO1 on UCSC Golden Path with GeneCards custom track

Promoters for PIEZO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIEZO1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PIEZO1 Gene

Chromosome:
16
Start:
88,715,338 bp from pter
End:
88,785,211 bp from pter
Size:
69,874 bases
Orientation:
Minus strand

Genomic View for PIEZO1 Gene

Genes around PIEZO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIEZO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIEZO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIEZO1 Gene

Proteins for PIEZO1 Gene

  • Protein details for PIEZO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92508-PIEZ1_HUMAN
    Recommended name:
    Piezo-type mechanosensitive ion channel component 1
    Protein Accession:
    Q92508
    Secondary Accessions:
    • A6NHT9
    • A7E2B7
    • Q0KKZ9

    Protein attributes for PIEZO1 Gene

    Size:
    2521 amino acids
    Molecular mass:
    286790 Da
    Quaternary structure:
    • Homotrimer. Interacts with PKD2. Interacts with STOML3.
    Miscellaneous:
    • Piezo comes from the Greek piesi meaning pressure.

neXtProt entry for PIEZO1 Gene

Proteomics data for PIEZO1 Gene at MOPED

Post-translational modifications for PIEZO1 Gene

  • Ubiquitination at Lys 113, Lys 1334, Lys 1953, and Lys 2372
  • Modification sites at PhosphoSitePlus

Other Protein References for PIEZO1 Gene

No data available for DME Specific Peptides for PIEZO1 Gene

Domains & Families for PIEZO1 Gene

Protein Domains for PIEZO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIEZO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92508

UniProtKB/Swiss-Prot:

PIEZ1_HUMAN :
  • Belongs to the PIEZO (TC 1.A.75) family.
Family:
  • Belongs to the PIEZO (TC 1.A.75) family.
genes like me logo Genes that share domains with PIEZO1: view

No data available for Gene Families for PIEZO1 Gene

Function for PIEZO1 Gene

Molecular function for PIEZO1 Gene

UniProtKB/Swiss-Prot Function:
Pore-forming subunit of a mechanosensitive non-specific cation channel (PubMed:23479567, PubMed:23695678). Generates currents characterized by a linear current-voltage relationship that 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 (PubMed:20016066). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing. Acts as shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity).
genes like me logo Genes that share phenotypes with PIEZO1: view

Human Phenotype Ontology for PIEZO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PIEZO1 Gene

Localization for PIEZO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIEZO1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Cell membrane; Multi-pass membrane protein. Cell projection, lamellipodium membrane. Note=In erythrocytes, located in the plasma membrane (PubMed:22529292, PubMed:23479567). Accumulates at the leading apical lamellipodia of endothelial cells in response to shear stress (PubMed:25119035). {ECO:0000269 PubMed:22529292, ECO:0000269 PubMed:23479567, ECO:0000269 PubMed:25119035}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIEZO1 Gene COMPARTMENTS Subcellular localization image for PIEZO1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5

No data available for Gene Ontology (GO) - Cellular Components for PIEZO1 Gene

Pathways & Interactions for PIEZO1 Gene

SuperPathways for PIEZO1 Gene

No Data Available

Interacting Proteins for PIEZO1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000301015%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000246069%0d%0a9606.ENSP00000267814%0d%0a
Selected Interacting proteins: ENSP00000301015 for PIEZO1 Gene via STRING

Gene Ontology (GO) - Biological Process for PIEZO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033625 positive regulation of integrin activation IMP 20016066
GO:0033634 positive regulation of cell-cell adhesion mediated by integrin IMP 20016066
genes like me logo Genes that share ontologies with PIEZO1: view

No data available for Pathways by source and SIGNOR curated interactions for PIEZO1 Gene

Drugs & Compounds for PIEZO1 Gene

No Compound Related Data Available

Transcripts for PIEZO1 Gene

Unigene Clusters for PIEZO1 Gene

Piezo-type mechanosensitive ion channel component 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIEZO1 Gene

No ASD Table

Relevant External Links for PIEZO1 Gene

GeneLoc Exon Structure for
PIEZO1
ECgene alternative splicing isoforms for
PIEZO1

Expression for PIEZO1 Gene

mRNA expression in normal human tissues for PIEZO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIEZO1 Gene

This gene is overexpressed in Adrenal (33.9), Cervix (10.8), and Peripheral blood mononuclear cells (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIEZO1 Gene



SOURCE GeneReport for Unigene cluster for PIEZO1 Gene Hs.377001

mRNA Expression by UniProt/SwissProt for PIEZO1 Gene

Q92508-PIEZ1_HUMAN
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. Expressed in erythrocytes (at protein level).
genes like me logo Genes that share expression patterns with PIEZO1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for PIEZO1 Gene

Orthologs for PIEZO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PIEZO1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIEZO1 35
  • 85.26 (n)
  • 83.58 (a)
PIEZO1 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIEZO1 35
  • 84.62 (n)
  • 84.74 (a)
PIEZO1 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Piezo1 35
  • 81.9 (n)
  • 82.26 (a)
Piezo1 16
Piezo1 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIEZO1 35
  • 98.26 (n)
  • 98.17 (a)
PIEZO1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Piezo1 35
  • 82.07 (n)
  • 82.19 (a)
oppossum
(Monodelphis domestica)
Mammalia PIEZO1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM38A 35
  • 74.02 (n)
  • 69.97 (a)
PIEZO1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIEZO1 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia piezo1 35
  • 63.68 (n)
  • 65 (a)
zebrafish
(Danio rerio)
Actinopterygii piezo1 35
  • 63.06 (n)
  • 59.58 (a)
piezo1 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG41056 36
  • 29 (a)
ManyToMany
Piezo 36
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T20D3.11 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
Species with no ortholog for PIEZO1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIEZO1 Gene

ENSEMBL:
Gene Tree for PIEZO1 (if available)
TreeFam:
Gene Tree for PIEZO1 (if available)

Paralogs for PIEZO1 Gene

Paralogs for PIEZO1 Gene

(2) SIMAP similar genes for PIEZO1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with PIEZO1: view

Variants for PIEZO1 Gene

Sequence variations from dbSNP and Humsavar for PIEZO1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_069822 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1)
VAR_069823 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1)
VAR_069824 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1)
VAR_069825 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1)
VAR_069826 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1)

Structural Variations from Database of Genomic Variants (DGV) for PIEZO1 Gene

Variant ID Type Subtype PubMed ID
nsv907226 CNV Loss 21882294
nsv907255 CNV Loss 21882294
nsv907268 CNV Loss 21882294
dgv2977n71 CNV Loss 21882294
dgv2978n71 CNV Loss 21882294
dgv2979n71 CNV Loss 21882294
nsv907278 CNV Loss 21882294
dgv2981n71 CNV Loss 21882294
nsv471113 CNV Loss 18288195
nsv833327 CNV Loss 17160897
dgv2983n71 CNV Loss 21882294
nsv907296 CNV Loss 21882294
dgv2984n71 CNV Loss 21882294
nsv471114 CNV Gain 18288195
dgv2985n71 CNV Loss 21882294
nsv907300 CNV Gain 21882294
nsv907305 CNV Loss 21882294
dgv2986n71 CNV Loss 21882294
nsv907307 CNV Gain 21882294
dgv2987n71 CNV Loss 21882294
nsv907311 CNV Loss 21882294
nsv1927 CNV Insertion 18451855
nsv517643 CNV Loss 19592680
esv2715027 CNV Deletion 23290073
esv24222 CNV Gain 19812545
esv2715031 CNV Deletion 23290073
esv1041922 CNV Deletion 17803354
nsv907312 CNV Loss 21882294
nsv907313 CNV Loss 21882294
esv998799 CNV Insertion 20482838
esv2715032 CNV Deletion 23290073
esv2715033 CNV Deletion 23290073
dgv2988n71 CNV Loss 21882294
esv2715034 CNV Deletion 23290073
esv29457 CNV Gain 19812545
esv2247831 CNV Deletion 18987734
esv2715035 CNV Deletion 23290073
esv2667582 CNV Deletion 23128226
nsv907316 CNV Loss 21882294
dgv2989n71 CNV Gain 21882294
nsv907320 CNV Loss 21882294
dgv2990n71 CNV Loss 21882294
dgv37n68 CNV Loss 17160897
nsv907322 CNV Loss 21882294
esv2715036 CNV Deletion 23290073
esv2715037 CNV Deletion 23290073
dgv2991n71 CNV Loss 21882294
dgv2992n71 CNV Loss 21882294
esv24628 CNV Loss 19812545

Variation tolerance for PIEZO1 Gene

Gene Damage Index Score: 21.12; 99.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIEZO1 Gene

HapMap Linkage Disequilibrium report
PIEZO1
Human Gene Mutation Database (HGMD)
PIEZO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIEZO1 Gene

Disorders for PIEZO1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PIEZO1 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PIEZ1_HUMAN
  • Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [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. {ECO:0000269 PubMed:22529292, ECO:0000269 PubMed:23479567, ECO:0000269 PubMed:23487776, ECO:0000269 PubMed:23581886, ECO:0000269 PubMed:23695678, ECO:0000269 PubMed:23973043}. 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.

Relevant External Links for PIEZO1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIEZO1
genes like me logo Genes that share disorders with PIEZO1: view

No data available for Genatlas for PIEZO1 Gene

Publications for PIEZO1 Gene

  1. Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops. (PMID: 23581886) Beneteau C. … Le Caignec C. (Clin. Genet. 2014) 3 4 67
  2. [Feeling the pressure? Identification of two proteins activated by mechanical forces]. (PMID: 21299953) Coste B. (Med Sci (Paris) 2011) 2 3
  3. The mechanosensitive ion channel Piezo1 is inhibited by the peptide GsMTx4. (PMID: 21696149) Bae C. … Gottlieb P.A. (Biochemistry 2011) 2 3
  4. Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels. (PMID: 20813920) Coste B. … Patapoutian A. (Science 2010) 2 3
  5. Mechanosensitive channels: in touch with Piezo. (PMID: 21056836) Xiao R. … Xu X.Z. (Curr. Biol. 2010) 2 3

Products for PIEZO1 Gene

Sources for PIEZO1 Gene

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