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

Gene ID: 234839, updated on 18-Jun-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 cation channel activity. Involved in positive regulation of myotube differentiation. Acts upstream of or within cation transport; detection of mechanical stimulus; and regulation of membrane potential. Located in plasma membrane. Is expressed in several structures, including hemolymphoid system; liver; and lung. 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). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 39.8), ovary adult (RPKM 31.9) and 23 other tissues See more
Orthologs
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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 
acts_upstream_of_or_within monoatomic cation transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell-cell adhesion mediated by integrin ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of integrin activation ISO
Inferred from Sequence Orthology
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 cell projection IEA
Inferred from Electronic Annotation
more info
 
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 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 

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)

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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.

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