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    PIEZO1 piezo type mechanosensitive ion channel component 1 [ Homo sapiens (human) ]

    Gene ID: 9780, updated on 28-Jun-2021

    Summary

    Official Symbol
    PIEZO1provided by HGNC
    Official Full Name
    piezo type mechanosensitive ion channel component 1provided by HGNC
    Primary source
    HGNC:HGNC:28993
    See related
    Ensembl:ENSG00000103335 MIM:611184
    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
    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
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    Genomic context

    See PIEZO1 in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (88715338..88785220, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88781746..88851628, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SNAI3 antisense RNA 1 Neighboring gene snail family transcriptional repressor 3 Neighboring gene ring finger protein 166 Neighboring gene cytosolic thiouridylase subunit 2 Neighboring gene microRNA 4722 Neighboring gene uncharacterized LOC100289580 Neighboring gene uncharacterized LOC339059 Neighboring gene uncharacterized LOC107984842 Neighboring gene chromatin licensing and DNA replication factor 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
    MedGen: C4551512 OMIM: 194380 GeneReviews: Not available
    Compare labs
    Lymphedema, hereditary, III
    MedGen: C4225184 OMIM: 616843 GeneReviews: Not available
    Compare labs
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    GeneReviews: Not available
    Seventy-five genetic loci influencing the human red blood cell.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0233

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables mechanosensitive ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cation transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to mechanical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in detection of mechanical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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.

    Genomic

    1. NG_042229.1 RefSeqGene

      Range
      5001..74883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1137

    mRNA and Protein(s)

    1. NM_001142864.4NP_001136336.2  piezo-type mechanosensitive ion channel component 1

      See identical proteins and their annotated locations for NP_001136336.2

      Status: REVIEWED

      Source sequence(s)
      AA682915, AB161230, AC138028, BU633404, CN280966, DR731297, DV080349, DV080374, HY165228
      Consensus CDS
      CCDS54058.1
      UniProtKB/Swiss-Prot
      Q92508
      Related
      ENSP00000301015.9, ENST00000301015.14
      Conserved Domains (2) summary
      pfam12166
      Location:21112519
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:12351459
      PIEZO; Piezo

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      88715338..88785220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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