Gene
piezo1
- ID
- ZDB-GENE-041111-255
- Name
- piezo type mechanosensitive ion channel component 1 (Er blood group)
- Symbol
- piezo1 Nomenclature History
- Previous Names
-
- FAM38A (1)
- im:7149048
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Enables mechanosensitive monoatomic 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 located in membrane. Predicted to be active in 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
- Comparative Information
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7149048 (2 images)
Wild Type Expression Summary
- All Phenotype Data
- 21 figures from 8 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 | ||
[ER blood group system] | 620207 |
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:A0A8N7TDV6
|
2538 |
- Genome Browsers
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
piezo1-201
(1)
|
Ensembl | 7,311 nt |
Interactions and Pathways
No data available
Plasmids
No data available