| Gene Information | |
|---|---|
| Gene Name | FAM38A |
| Organism | Homo sapiens (Human) |
| Gene Length | 2521 |
| Protein Names | Piezo-type mechanosensitive ion channel component 1 (Membrane protein induced by beta-amyloid treatment) (Mib) (Protein FAM38A) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q92508 |
| Gene Card | PIEZO1 |
| Uniprot ID | Q92508 |
| Pfam | PF15917; PF12166 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in numerous tissues. In normal brain, expressed exclusively in neurons, not in astrocytes. In Alzheimer disease brains, expressed in about half of the activated astrocytes located around classical senile plaques. In Parkinson disease substantia nigra, not detected in melanin-containing neurons nor in activated astrocytes. Expressed in erythrocytes (at protein level). Expressed in myoblasts (at protein level). {ECO:0000269|PubMed:16854388, ECO:0000269|PubMed:22529292, ECO:0000269|PubMed:23479567, ECO:0000269|PubMed:29799007}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs755885744 rs200970763 rs202103485 rs201226914 rs587777765 rs587776990 rs587776989 rs587777764 rs587776991 rs587776987 rs869025601 rs587776988 rs577860843 rs749288233 |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000269|PubMed:20016066}; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000250|UniProtKB:Q0KL00}. Cell membrane {ECO:0000269|PubMed:22529292, ECO:0000269|PubMed:23479567}; Multi-pass membrane protein {ECO:0000305}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:25119035}. Cell membrane {ECO:0000250|UniProtKB:E2JF22}; Multi-pass membrane protein. Note=In erythrocytes, located in the plasma membrane (PubMed:22529292, PubMed:23479567). Accumulates at the leading apical lamellipodia of endothelial cells in response to shear stress (PubMed:25119035). Colocalizes with F-actin and MYH9 at the actomyosin cortex in myoblasts. {ECO:0000250|UniProtKB:E2JF22, ECO:0000269|PubMed:22529292, ECO:0000269|PubMed:23479567, ECO:0000269|PubMed:25119035}. |
| Mouse PG classification | NA |
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