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
- Enables mechanosensitive ion channel activity and voltage-gated channel activity. Involved in regulation of epidermal cell division. Acts upstream of or within several processes, including cell volume homeostasis; epidermal cell division; and ventriculo bulbo valve development. Predicted to be integral component of 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
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7149048 (2 images)
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