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The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]
PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1) is a Protein Coding gene. Diseases associated with PIEZO1 include Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema and Lymphatic Malformation 6. Gene Ontology (GO) annotations related to this gene include cation channel activity and mechanosensitive ion channel activity. An important paralog of this gene is PIEZO2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005261 | cation channel activity | ISS | -- |
GO:0008381 | mechanosensitive ion channel activity | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IBA,IDA | 20016066 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005886 | plasma membrane | IBA,ISS | -- |
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | ISS | -- |
GO:0033625 | positive regulation of integrin activation | IMP | 20016066 |
GO:0033634 | positive regulation of cell-cell adhesion mediated by integrin | IMP | 20016066 |
GO:0034220 | ion transmembrane transport | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIEZO1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | PIEZO1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PIEZO1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Piezo1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Piezo1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PIEZO1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FAM38A 30 |
|
||
PIEZO1 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | PIEZO1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | piezo1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | piezo1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG41056 31 |
|
ManyToMany | |
Piezo 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | T20D3.11 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638426 | Uncertain Significance: Lymphedema, hereditary, III | 88,715,618(-) | C/G | MISSENSE_VARIANT | |
638427 | Uncertain Significance: Lymphedema, hereditary, III | 88,731,902(-) | G/T | MISSENSE_VARIANT | |
708127 | Benign: not specified; not provided | 88,723,279(-) | C/T | MISSENSE_VARIANT | |
708128 | Likely Benign: not provided | 88,734,804(-) | G/A | INTRON_VARIANT | |
708196 | Benign: not provided | 88,736,240(-) | G/C | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema |
|
|
lymphatic malformation 6 |
|
|
hereditary stomatocytosis |
|
|
immune hydrops fetalis |
|
|
hemolytic anemia |
|
|