PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIEZO1provided by HGNC
Official Full Name: piezo type mechanosensitive ion channel component 1 (Er blood group)provided by HGNC
Primary source: HGNC:HGNC:28993
See related: Ensembl:ENSG00000103335 MIM:611184; AllianceGenome:HGNC:28993
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ER; DHS; Mib; LMPH3; FAM38A; LMPHM6
Summary: 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]
Expression: Ubiquitous expression in fat (RPKM 30.4), lung (RPKM 14.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.3

Exon count:: 51

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (88715338..88785220, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (94785806..94856736, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (88781746..88851628, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mechanosensitive Piezo1 channels promote neurogenic bladder fibrosis via regulating TGF-beta1/smad and Hippo/YAP1 pathways.
Title: Mechanosensitive Piezo1 channels promote neurogenic bladder fibrosis via regulating TGF-β1/smad and Hippo/YAP1 pathways.
Acute contact with profibrotic macrophages mechanically activates fibroblasts via alphavbeta3 integrin-mediated engagement of Piezo1.
Title: Acute contact with profibrotic macrophages mechanically activates fibroblasts via αvβ3 integrin-mediated engagement of Piezo1.
Mechanisms of mechanotransduction and physiological roles of PIEZO channels.
Title: Mechanisms of mechanotransduction and physiological roles of PIEZO channels.
Piezo channels modulate human lung fibroblast function.
Title: Piezo channels modulate human lung fibroblast function.
Functional Role of Piezo1 in the Human Eosinophil Cell Line AML14.3D10: Implications for the Immune and Sensory Nervous Systems.
Title: Functional Role of Piezo1 in the Human Eosinophil Cell Line AML14.3D10: Implications for the Immune and Sensory Nervous Systems.
Mapping the Spatial Dynamics of the CD4+ T Cell Spectrum in Classical Hodgkin Lymphoma.
Title: Mapping the Spatial Dynamics of the CD4+ T Cell Spectrum in Classical Hodgkin Lymphoma.
MiR-214-3p regulates Piezo1, lysyl oxidases and mitochondrial function in human cardiac fibroblasts.
Title: MiR-214-3p regulates Piezo1, lysyl oxidases and mitochondrial function in human cardiac fibroblasts.
PIEZO1 targeting in macrophages boosts phagocytic activity and foam cell apoptosis in atherosclerosis.
Title: PIEZO1 targeting in macrophages boosts phagocytic activity and foam cell apoptosis in atherosclerosis.
PIEZO1 Promotes Odontoblast-Mediated Reactionary Dentinogenesis via SEMA3A.
Title: PIEZO1 Promotes Odontoblast-Mediated Reactionary Dentinogenesis via SEMA3A.
The anchor domain is critical for Piezo1 channel mechanosensitivity.
Title: The anchor domain is critical for Piezo1 channel mechanosensitivity.

Submit: New GeneRIF Correction See all GeneRIFs (226)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Blood group, ER MedGen: C5703066 OMIM: 620207 GeneReviews: Not available	not available
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema MedGen: C4551512 OMIM: 194380 GeneReviews: Not available	not available
Lymphatic malformation 6 MedGen: C4225184 OMIM: 616843 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seventy-five genetic loci influencing the human red blood cell. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of PIEZO1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH94123 (e-PCR)
- UniSTS:84246

D16S2592E (e-PCR)
- UniSTS:151662

SHGC-61047 (e-PCR)
- UniSTS:39067

D1S3693 (e-PCR)
- UniSTS:474271

SHGC-149930 (e-PCR)
- UniSTS:182972

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mechanosensitive monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables mechanosensitive monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoatomic cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoatomic cation channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to mechanical stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of mechanical stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic cation transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell-cell adhesion mediated by integrin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of integrin activation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of myotube differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cuticular plate	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
located_in lamellipodium membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in stereocilium	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: piezo-type mechanosensitive ion channel component 1

Names: family with sequence similarity 38, member A; membrane protein induced by beta-amyloid treatment

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.