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    Piezo1 piezo-type mechanosensitive ion channel component 1 [ Mus musculus (house mouse) ]

    Gene ID: 234839, updated on 17-Dec-2024

    Summary

    Official Symbol
    Piezo1provided by MGI
    Official Full Name
    piezo-type mechanosensitive ion channel component 1provided by MGI
    Primary source
    MGI:MGI:3603204
    See related
    Ensembl:ENSMUSG00000014444 AllianceGenome:MGI:3603204
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fam38a; mKIAA0233; 9630020g22
    Summary
    Enables identical protein binding activity and mechanosensitive monoatomic cation channel activity. Involved in monoatomic cation transport and positive regulation of myotube differentiation. Acts upstream of or within detection of mechanical stimulus and regulation of membrane potential. Located in cuticular plate; plasma membrane; and stereocilium. Is expressed in several structures, including brain; hemolymphoid system; liver; lung; and skin. Human ortholog(s) of this gene implicated in dehydrated hereditary stomatocytosis 1 and hereditary lymphedema. Orthologous to human PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lung adult (RPKM 39.8), ovary adult (RPKM 31.9) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Piezo1 in Genome Data Viewer
    Location:
    8 E1; 8 71.31 cM
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (123208437..123278068, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (122481698..122551329, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene snail family zinc finger 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:124993848-124994115 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:124994651-124994852 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:124997832-124998091 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:124999099-124999282 Neighboring gene ring finger protein 166 Neighboring gene cytosolic thiouridylase subunit 2 Neighboring gene STARR-seq mESC enhancer starr_22950 Neighboring gene predicted gene, 26497 Neighboring gene STARR-positive B cell enhancer ABC_E1108 Neighboring gene STARR-positive B cell enhancer ABC_E6699 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:125080544-125080815 Neighboring gene predicted gene, 34847 Neighboring gene STARR-positive B cell enhancer ABC_E8270 Neighboring gene chromatin licensing and DNA replication factor 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    General gene information

    Gene Ontology Provided by MGI

    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
     
    acts_upstream_of_or_within detection of mechanical stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within monoatomic cation transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in monoatomic cation transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell-cell adhesion mediated by integrin ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell-cell adhesion mediated by integrin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of integrin activation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of integrin activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of myotube differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of myotube differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within regulation of membrane potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cuticular plate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in stereocilium IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    piezo-type mechanosensitive ion channel component 1
    Names
    family with sequence similarity 38, member A
    protein PIEZO1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001037298.1NP_001032375.1  piezo-type mechanosensitive ion channel component 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC114917
      Consensus CDS
      CCDS52695.1
      UniProtKB/Swiss-Prot
      E2JF22
      UniProtKB/TrEMBL
      E9PUQ9
      Related
      ENSMUSP00000089777.6, ENSMUST00000067252.14
      Conserved Domains (2) summary
      pfam12166
      Location:21262544
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:12291452
      PIEZO; Piezo
    2. NM_001357349.1NP_001344278.1  piezo-type mechanosensitive ion channel component 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC114917
      Consensus CDS
      CCDS90474.1
      UniProtKB/Swiss-Prot
      E2JF22
      UniProtKB/TrEMBL
      F7AC58
      Related
      ENSMUSP00000114584.3, ENSMUST00000156333.9
      Conserved Domains (2) summary
      pfam12166
      Location:21272545
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:12301453
      PIEZO; Piezo

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      123208437..123278068 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530954.2XP_006531017.2  piezo-type mechanosensitive ion channel component 1 isoform X2

      UniProtKB/Swiss-Prot
      E2JF22
      Conserved Domains (2) summary
      pfam12166
      Location:21212539
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:12241447
      PIEZO; Piezo
    2. XM_006530956.2XP_006531019.2  piezo-type mechanosensitive ion channel component 1 isoform X3

      UniProtKB/Swiss-Prot
      E2JF22
      Conserved Domains (2) summary
      pfam12166
      Location:20982516
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:12251424
      PIEZO; Piezo
    3. XM_006530953.2XP_006531016.2  piezo-type mechanosensitive ion channel component 1 isoform X1

      UniProtKB/Swiss-Prot
      E2JF22
      Conserved Domains (2) summary
      pfam12166
      Location:21222540
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:12251448
      PIEZO; Piezo
    4. XM_006530959.3XP_006531022.1  piezo-type mechanosensitive ion channel component 1 isoform X5

      UniProtKB/TrEMBL
      Q80XT7
      Conserved Domains (2) summary
      pfam12166
      Location:13971815
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:500723
      PIEZO; Piezo
    5. XM_011248372.2XP_011246674.1  piezo-type mechanosensitive ion channel component 1 isoform X6

      UniProtKB/TrEMBL
      Q6ZQF9
      Conserved Domains (2) summary
      pfam12166
      Location:9761394
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:79302
      PIEZO; Piezo
    6. XM_006530957.3XP_006531020.2  piezo-type mechanosensitive ion channel component 1 isoform X4

      UniProtKB/Swiss-Prot
      E2JF22
      Conserved Domains (2) summary
      pfam12166
      Location:21222173
      Piezo_RRas_bdg; Piezo non-specific cation channel, R-Ras-binding domain
      pfam15917
      Location:12251448
      PIEZO; Piezo