PIEZ1_HUMAN
Source:
hRBCD
; ID:
IPI00006093
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
PIEZO1
, FAM38A, KIAA0233
Protein names and data:
PIEZ1_HUMAN
, Piezo-type mechanosensitive ion channel component 1
, Membrane protein induced by beta-amyloid treatment; Mib; Protein FAM38A
Lenght: 2521 a.a.
Mass: 286790 Da
fasta formatted sequence
Function:
Pore-forming subunit of a mechanosensitive non-specific cation channel, that conducts both sodium and potassium ions. Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling.
Disease:
( OMIM:
194380
611184
)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]: An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis. Note=The disease is caused by mutations affecting the gene represented in this entry. All disease-causing mutations characterized so far produce a gain-of- function phenotype, mutated channels exhibiting increased cation transport in erythroid cells, that could be due to slower channel inactivation rate compared to the wild-type protein.
Cellular location:
Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane. Cell membrane; Multi-pass membrane protein. Note=In erythrocytes, located in the plasma membrane.
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).
Genetic variants
718 - 718
G -> S (in DHS). VAR_069822
782 - 782
G -> S (in DHS). VAR_069823
808 - 808
R -> Q (in DHS). VAR_069824
1117 - 1117
S -> L (in DHS). VAR_069825
1358 - 1358
R -> P (in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents). VAR_069826
2003 - 2003
A -> D (in DHS). VAR_069827
2020 - 2020
A -> T (in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents). VAR_069828
2020 - 2020
A -> V (in DHS). VAR_069829
2127 - 2127
T -> M (in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents). VAR_069830
2166 - 2169
Missing (in DHS). VAR_069831
2225 - 2225
M -> R (in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents). VAR_069832
2456 - 2456
R -> H (in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents). VAR_069833
2488 - 2488
R -> Q (in DHS; increased cation transport in erythroid cells). VAR_069834
2496 - 2496
E -> ELE (in DHS; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents). VAR_069835
Database cross-references
UniProt:
Q92508
Ensembl:
ENST00000301015
MIM:
194380
MIM:
611184
neXtProt:
NX_Q92508
Antibodypedia:
Q92508
(may not find the protein thus also not any antibody)
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