Gene
piezo1
- ID
- ZDB-GENE-041111-255
- Name
- piezo-type mechanosensitive ion channel component 1
- Symbol
- piezo1 Nomenclature History
- Previous Names
-
- FAM38A (1)
- im:7149048
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Exhibits mechanosensitive ion channel activity and voltage-gated channel activity. Involved in several processes, including cell volume homeostasis; epidermal cell division; and regulation of epidermal cell division. Predicted to localize to endoplasmic reticulum and plasma membrane. Is expressed in nucleate erythrocyte and ventral mesoderm. 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).
- Genome Resources
- Note
- None
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dehydrated hereditary stomatocytosis 1 | Alliance | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 194380 |
| Lymphatic malformation 6 | 616843 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Piezo domain | Piezo family | Piezo non-specific cation channel, R-Ras-binding domain |
|---|---|---|---|---|
|
UniProtKB:E7FD74
|
2436 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available