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_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (88715338..88785220, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (94785806..94856736, complement)
105.20220307	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
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?

The PIEZO1/miR-155-5p/GDF6/SMAD2/3 signaling axis is involved in inducing the occurrence and progression of osteoarthritis under excessive mechanical stress.
Title: The PIEZO1/miR-155-5p/GDF6/SMAD2/3 signaling axis is involved in inducing the occurrence and progression of osteoarthritis under excessive mechanical stress.
Examination of the mechanism of Piezo ion channel in 5-HT synthesis in the enterochromaffin cell and its association with gut motility.
Title: Examination of the mechanism of Piezo ion channel in 5-HT synthesis in the enterochromaffin cell and its association with gut motility.
Piezo1 mechanosensing regulates integrin-dependent chemotactic migration in human T cells.
Title: Piezo1 mechanosensing regulates integrin-dependent chemotactic migration in human T cells.
Piezo1 channels restrain ILC2s and regulate the development of airway hyperreactivity.
Title: Piezo1 channels restrain ILC2s and regulate the development of airway hyperreactivity.
Gastric mechanosensitive channel Piezo1 regulates ghrelin production and food intake.
Title: Gastric mechanosensitive channel Piezo1 regulates ghrelin production and food intake.
Piezo1 expression in chondrocytes controls endochondral ossification and osteoarthritis development.
Title: Piezo1 expression in chondrocytes controls endochondral ossification and osteoarthritis development.
The Gardos Channel and Piezo1 Revisited: Comparison between Reticulocytes and Mature Red Blood Cells.
Title: The Gárdos Channel and Piezo1 Revisited: Comparison between Reticulocytes and Mature Red Blood Cells.
PIEZO1 is essential for the survival and proliferation of acute myeloid leukemia cells.
Title: PIEZO1 is essential for the survival and proliferation of acute myeloid leukemia cells.
Piezo1 Regulation Involves Lipid Domains and the Cytoskeleton and Is Favored by the Stomatocyte-Discocyte-Echinocyte Transformation.
Title: Piezo1 Regulation Involves Lipid Domains and the Cytoskeleton and Is Favored by the Stomatocyte-Discocyte-Echinocyte Transformation.
Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.
Title: Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.

Submit: New GeneRIF Correction See all GeneRIFs (205)

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	Compare labs
Lymphatic malformation 6 MedGen: C4225184 OMIM: 616843 GeneReviews: Not available	Compare labs

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
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

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.