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 epidermal cell division; pericyte cell migration; 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; ventral mesoderm; and vertebral column. 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 (Er blood group)).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 6 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 | Additional Resources | Length | Piezo family | Piezo non-specific cation channel, cap domain | Piezo, TM25-28 |
|---|---|---|---|---|---|
| UniProtKB:A0A8N7TDV6 | InterPro | 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
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab3-piezo1 | polyclonal | IgG | Rabbit |
|
Life Technologies (Invitrogen)
|
3 |
Plasmids
No data available