| Tbio | Calcium homeostasis modulator protein 1 |
Pore-forming subunit of a voltage-gated ion channel required for sensory perception of sweet, bitter and umami tastes. Specifically present in type II taste bud cells, where it plays a central role in sweet, bitter and umami taste perception by inducing ATP release from the cell, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to changes in extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of Ca(2+), Na(+) and K(+), as well as permeation of monovalent anions. Acts as an activator of the ERK1 and ERK2 cascade. Triggers endoplasmic reticulum stress by reducing the calcium content of the endoplasmic reticulum. May indirectly control amyloid precursor protein (APP) proteolysis and aggregated amyloid-beta (Abeta) peptides levels in a Ca(2+) dependent manner.
This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]
This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimer's disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]
Comments
Property Summary
| NCBI Gene PubMed Count | 40 |
| Grant Count | 11 |
| R01 Count | 8 |
| Funding | $1,494,070.66 |
| PubMed Score | 47.00 |
| PubTator Score | 54.34 |
| Disease | Z-score | Confidence |
|---|---|---|
| Alzheimer's disease 644 | 4.397 | 2.2 |
| Bladder Neoplasm 109 | ||
| diabetes mellitus 1,663 | ||
| osteosarcoma 7,933 | ||
| ovarian cancer 8,484 |
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | 1.345 | 0.000 |
| diabetes mellitus | 1.100 | 0.001 |
| ovarian cancer | -1.100 | 0.000 |
| PMID | Text |
|---|---|
| 26944452 | CALHM1 polymorphism may be potential biomarker in patients with Alzheimer disease. [meta-analysis] |
| 26416646 | In the presence of antibody, P86L-CALHM1 shifts the balance between neurodegeneration and neuronal survival toward the stimulation of pro-cytotoxic pathways, thus potentially contributing to its deleterious effects in Alzheimer's disease. |
| 25386646 | The rare R154H variant interferes with CALHM1 control of cytosolic Ca2+ and Abeta accumulation. |
| 24630757 | CALHM1 p.P86L variation may not be an AD susceptibility factor in the Han Chinese population. |
| 24326043 | This study showed that No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population |
| 24069280 | rare genetic variants in CALHM1 lead to Ca(2+) dysregulation and may contribute to the risk of EOAD through a mechanism independent from the classical Ass cascade. |
| 23884934 | Our data show that CLHM-1 is a functionally conserved ion channel that plays an important but potentially toxic role in excitable cell function. |
| 23467090 | CALHM1 is a voltage-gated ATP-release channel required for sweet, bitter and umami taste perception |
| 23345406 | The study identifies a previously uncharacterized mechanism of control of Ca(2+)-dependent ERK1/2 signaling in neurons, and further establishes CALHM1 as a critical ion channel for neuronal signaling and function. |
| 23300080 | Structural and functional similarities of calcium homeostasis modulator 1 (CALHM1) ion channel with connexins, pannexins, and innexins. |
| More... |
MMDKFRMIFQFLQSNQESFMNGICGIMALASAQMYSAFDFNCPCLPGYNAAYSAGILLAPPLVLFLLGLV 1 - 70 MNNNVSMLAEEWKRPLGRRAKDPAVLRYMFCSMAQRALIAPVVWVAVTLLDGKCFLCAFCTAVPVSALGN 71 - 140 GSLAPGLPAPELARLLARVPCPEIYDGDWLLAREVAVRYLRCISQALGWSFVLLTTLLAFVVRSVRPCFT 141 - 210 QAAFLKSKYWSHYIDIERKLFDETCTEHAKAFAKVCIQQFFEAMNHDLELGHTHGTLATAPASAAAPTTP 211 - 280 DGAEEEREKLRGITDQGTMNRLLTSWHKCKPPLRLGQEEPPLMGNGWAGGGPRPPRKEVATYFSKV 281 - 346 //
| PMID | Year | Title |
|---|---|---|
| 26944452 | 2016 | Calcium homeostasis modulator 1 gene P86L polymorphism and the risk for alzheimer's disease: A meta-analysis. |
| 26416646 | 2015 | CALHM1 and its polymorphism P86L differentially control Ca²?homeostasis, mitogen-activated protein kinase signaling, and cell vulnerability upon exposure to amyloid ?. |
| 25386646 | 2014 | Effect of the CALHM1 G330D and R154H human variants on the control of cytosolic Ca2+ and A? levels. |
| 24630757 | 2014 | Lack of association between CALHM1 p.P86L variation and Alzheimer's disease in the Han Chinese population. |
| 24326043 | 2014 | No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population. |
| 24069280 | 2013 | Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis. |
| 23974872 | 2013 | Genome-wide association analysis identifies 13 new risk loci for schizophrenia. |
| 23884934 | 2013 | CLHM-1 is a functionally conserved and conditionally toxic Ca2+-permeable ion channel in Caenorhabditis elegans. |
| 23467090 | 2013 | CALHM1 ion channel mediates purinergic neurotransmission of sweet, bitter and umami tastes. |
| 23345406 | 2013 | CALHM1 controls the Ca²?-dependent MEK, ERK, RSK and MSK signaling cascade in neurons. |
| More... |
