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Aliases for PIEZO1 Gene

Aliases for PIEZO1 Gene

  • Piezo-Type Mechanosensitive Ion Channel Component 1 2 3
  • FAM38A 3 4 6
  • MIB 3 4 6
  • Membrane Protein Induced By Beta-Amyloid Treatment 3 4
  • Family With Sequence Similarity 38, Member A 2 3
  • DHS 3 6
  • Protein FAM38A 4
  • KIAA0233 4

External Ids for PIEZO1 Gene

Previous Symbols for PIEZO1 Gene

  • FAM38A

Summaries for PIEZO1 Gene

Entrez Gene Summary for PIEZO1 Gene

  • Piezos are large transmembrane proteins conserved among various species, all having between 24 and 36 predicted transmembrane domains. 'Piezo' comes from the Greek 'piesi,' meaning 'pressure.' The FAM38A gene encodes PIEZO1, a protein that induces mechanically activated (MA) currents in various cell types (Coste et al., 2010 [PubMed 20813920]).[supplied by OMIM, Nov 2010]

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. 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. 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.

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

Genomics for PIEZO1 Gene

Genomic Location for PIEZO1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIEZO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIEZO1 Gene

No data available for Regulatory Elements 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:
    • Homooligomer, most likely homotetramer. 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys113, Lys1334, Lys1953, and Lys2372
  • Glycosylation at Asn295, Asn2294, and Asn2331

Other Protein References for PIEZO1 Gene

No data available for DME Specific Peptides for PIEZO1 Gene

Domains for PIEZO1 Gene

Protein Domains for PIEZO1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q92508

UniProtKB/Swiss-Prot:

PIEZ1_HUMAN
Family:
  • Belongs to the PIEZO (TC 1.A.75) family.:
    • Q92508
genes like me logo Genes that share domains with PIEZO1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences 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. 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.

Gene Ontology (GO) - Molecular Function for PIEZO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity ISS --
GO:0008381 mechanically-gated ion channel activity IEA --
genes like me logo Genes that share ontologies with PIEZO1: view

Phenotypes for PIEZO1 Gene

GenomeRNAi human phenotypes for PIEZO1:
genes like me logo Genes that share phenotypes with PIEZO1: view

miRNA for PIEZO1 Gene

miRTarBase miRNAs that target PIEZO1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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. Note=In erythrocytes, located in the plasma membrane. In response to shear stress there is an accumulation at the leading apical lamellipodia. {ECO:0000269 PubMed:25119035}.

Gene Ontology (GO) - Cellular Components for PIEZO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 20016066
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane ISS --
GO:0016021 integral component of membrane IEA --
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA --
genes like me logo Genes that share ontologies with PIEZO1: view

No data available for Subcellular locations from COMPARTMENTS for PIEZO1 Gene

Pathways 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:0006812 cation transport ISS --
GO:0033625 positive regulation of integrin activation IMP 20016066
GO:0033634 positive regulation of cell-cell adhesion mediated by integrin IMP 20016066
GO:0034220 ion transmembrane transport --
GO:0042391 regulation of membrane potential IEA --
genes like me logo Genes that share ontologies with PIEZO1: view

No data available for Pathways by source for PIEZO1 Gene

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

Integrated Proteomics: protein expression 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 expressions with PIEZO1: view

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia PIEZO1 35
  • 98.26 (n)
  • 98.17 (a)
PIEZO1 36
  • 98 (a)
OneToOne
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
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
rat
(Rattus norvegicus)
Mammalia Piezo1 35
  • 82.07 (n)
  • 82.19 (a)
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

Selected 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 MAF
rs475596 -- 88,780,543(-) CACAT(C/G)TGGCA intron-variant
rs477203 -- 88,780,410(-) TGAGG(C/T)GGGAC intron-variant
rs479961 -- 88,780,109(-) GGTGG(A/C)CGACC intron-variant
rs494299 -- 88,783,697(-) CAGTG(C/T)GGTCA intron-variant
rs525446 -- 88,782,574(-) GCCCC(A/T)GGACC intron-variant

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

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

(1) OMIM Diseases for PIEZO1 Gene (611184)

UniProtKB/Swiss-Prot

PIEZ1_HUMAN
  • 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. {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.
genes like me logo Genes that share disorders with PIEZO1: view

Publications for PIEZO1 Gene

  1. 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. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 3 4
  2. A novel membrane protein, encoded by the gene covering KIAA0233, is transcriptionally induced in senile plaque-associated astrocytes. (PMID: 16854388) Satoh K. … Yamada T. (Brain Res. 2006) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  4. Integrin activation by Fam38A uses a novel mechanism of R-Ras targeting to the endoplasmic reticulum. (PMID: 20016066) McHugh B.J. … Sethi T. (J. Cell Sci. 2010) 3 4
  5. Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels. (PMID: 20813920) Coste B. … Patapoutian A. (Science 2010) 2 3

Products for PIEZO1 Gene

Sources for PIEZO1 Gene

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