PIEZO1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PIEZO1 |
| Official Name | piezo type mechanosensitive ion channel component 1 [Source:HGNC Symbol;Acc:HGNC:28993] |
| Ensembl ID | ENSG00000103335 |
| Bio databases IDs | |
| Aliases | piezo type mechanosensitive ion channel component 1 |
| Synonyms | 9630020g22, DHS, ER, FAM38A, KIAA0233, LMPH3, LMPHM6, Mib, mKIAA0233, piezo-type mechanosensitive ion channel component 1, piezo type mechanosensitive ion channel component 1 (Er blood group) |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PIEZO1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Piezo non-specific cation channel, R-Ras-binding domain
- protein binding
- mechanically-gated ion channel
- identical protein binding
- ion channel
- cation channel
- Piezo
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- epithelial cancer
- liver cancer
- non-insulin-dependent diabetes mellitus
- dehydrated hereditary stomatocytosis
- lymphatic malformation 6
- chronic obstructive pulmonary disease
- hereditary disorder
- idiopathic hydrops fetalis
- hepatocellular carcinoma
role in cell
- expression in
- proliferation
- phosphorylation in
- cell viability
- number
- calcium response
- migration
- production in
- quantity
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- stereocilia
- cuticular plate
- intercalated disks
- transverse tubules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PIEZO1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- detection of mechanical stimulus
- cellular response to mechanical stimulus
- regulation of membrane potential
- cation transport
- positive regulation of myotube differentiation
- positive regulation of integrin activation
- positive regulation of cell-cell adhesion mediated by integrin
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
- plasma membrane
- lamellipodium membrane
- endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular Function
What the gene product does at the molecular level
- mechanically-gated ion channel activity
- protein binding
- cation channel activity