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    CALHM1 calcium homeostasis modulator 1 [ Homo sapiens (human) ]

    Gene ID: 255022, updated on 27-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Thermosensitivity of the voltage-dependent activation of calcium homeostasis modulator 1 (calhm1) ion channel.

    Thermosensitivity of the voltage-dependent activation of calcium homeostasis modulator 1 (calhm1) ion channel.
    Jeon YK, Choi SW, Kwon JW, Woo J, Choi SW, Kim SJ, Kim SJ.

    04/24/2021
    Meta-analysis suggested that CALHM1 rs2986017 might be associated with increased Alzheimer's disease risk in Caucasian, but not Asian population

    Genetic association of CALHM1 rs2986017 polymorphism with risk of Alzheimer's disease: a meta-analysis.
    Lu Y, Liu W, Tan K, Peng J, Zhu Y, Wang X.

    12/24/2016
    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.

    CALHM1 and its polymorphism P86L differentially control Ca²⁺homeostasis, mitogen-activated protein kinase signaling, and cell vulnerability upon exposure to amyloid β.
    Moreno-Ortega AJ, Buendia I, Mouhid L, Egea J, Lucea S, Ruiz-Nuño A, López MG, Cano-Abad MF., Free PMC Article

    10/29/2016
    CALHM1 polymorphism may be potential biomarker in patients with Alzheimer disease. [meta-analysis]

    Calcium homeostasis modulator 1 gene P86L polymorphism and the risk for alzheimer's disease: A meta-analysis.
    Mun MJ, Kim JH, Choi JY, Jang WC.

    08/27/2016
    The rare R154H variant interferes with CALHM1 control of cytosolic Ca2+ and Abeta accumulation.

    Effect of the CALHM1 G330D and R154H human variants on the control of cytosolic Ca2+ and Aβ levels.
    Vingtdeux V, Tanis JE, Chandakkar P, Zhao H, Dreses-Werringloer U, Campagne F, Foskett JK, Marambaud P., Free PMC Article

    02/6/2016
    CALHM1 p.P86L variation may not be an AD susceptibility factor in the Han Chinese population.

    Lack of association between CALHM1 p.P86L variation and Alzheimer's disease in the Han Chinese population.
    Tao QQ, Sun YM, Liu ZJ, Yang P, Li HL, Lu SJ, Wu ZY.

    12/20/2014
    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

    No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population.
    Li X, Wang Y, Gu J, Meng Q, Gao Y, Zhao H, Yin Z.

    10/25/2014
    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.

    Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.
    Rubio-Moscardo F, Setó-Salvia N, Pera M, Bosch-Morató M, Plata C, Belbin O, Gené G, Dols-Icardo O, Ingelsson M, Helisalmi S, Soininen H, Hiltunen M, Giedraitis V, Lannfelt L, Frank A, Bullido MJ, Combarros O, Sánchez-Juan P, Boada M, Tárraga L, Pastor P, Pérez-Tur J, Baquero M, Molinuevo JL, Sánchez-Valle R, Fuentes-Prior P, Fortea J, Blesa R, Muñoz FJ, Lleó A, Valverde MA, Clarimón J., Free PMC Article

    05/10/2014
    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.

    CALHM1 controls the Ca²⁺-dependent MEK, ERK, RSK and MSK signaling cascade in neurons.
    Dreses-Werringloer U, Vingtdeux V, Zhao H, Chandakkar P, Davies P, Marambaud P., Free PMC Article

    11/2/2013
    Our data show that CLHM-1 is a functionally conserved ion channel that plays an important but potentially toxic role in excitable cell function.

    CLHM-1 is a functionally conserved and conditionally toxic Ca2+-permeable ion channel in Caenorhabditis elegans.
    Tanis JE, Ma Z, Krajacic P, He L, Foskett JK, Lamitina T., Free PMC Article

    10/19/2013
    Structural and functional similarities of calcium homeostasis modulator 1 (CALHM1) ion channel with connexins, pannexins, and innexins.

    Structural and functional similarities of calcium homeostasis modulator 1 (CALHM1) ion channel with connexins, pannexins, and innexins.
    Siebert AP, Ma Z, Grevet JD, Demuro A, Parker I, Foskett JK., Free PMC Article

    05/11/2013
    CALHM1 is a voltage-gated ATP-release channel required for sweet, bitter and umami taste perception

    CALHM1 ion channel mediates purinergic neurotransmission of sweet, bitter and umami tastes.
    Taruno A, Vingtdeux V, Ohmoto M, Ma Z, Dvoryanchikov G, Li A, Adrien L, Zhao H, Leung S, Abernethy M, Koppel J, Davies P, Civan MM, Chaudhari N, Matsumoto I, Hellekant G, Tordoff MG, Marambaud P, Foskett JK., Free PMC Article

    04/20/2013
    A TGG haplotype defined by the rs4918016-rs2986017-rs2986018 block was associated with sporadic Creutzfeldt-Jakob disease.

    Genetic variability of the gene cluster CALHM 1-3 in sporadic Creutzfeldt-Jakob disease.
    Calero O, Bullido MJ, Clarimón J, Hortigüela R, Frank-García A, Martínez-Martín P, Lleó A, Rey MJ, Sastre I, Rábano A, de Pedro-Cuesta J, Ferrer I, Calero M., Free PMC Article

    03/2/2013
    An association between the CALHM1 polymorphism and the risk for Alzheimer's disease, was not detected.

    No association between CALHM1 polymorphism and Alzheimer's disease risk in a Hungarian population.
    Fehér A, Juhász A, Rimanóczy A, Pákáski M, Kálmán J, Janka Z.

    04/7/2012
    Data show a significant association of CALHM1 P86L with elevated CSF Abeta42 and Abeta40 in the normal cohort at risk for Alzheimer's disease.

    CALHM1 P86L polymorphism modulates CSF Aβ levels in cognitively healthy individuals at risk for Alzheimer's disease.
    Koppel J, Campagne F, Vingtdeux V, Dreses-Werringloer U, Ewers M, Rujescu D, Hampel H, Gordon ML, Christen E, Chapuis J, Greenwald BS, Davies P, Marambaud P., Free PMC Article

    03/31/2012
    CALHM1 increases Ca(2+) leak from the ER and, more importantly, reduces the endoplasmic reticulum Ca(2+) uptake by decreasing both the transport capacity and the Ca(2+) affinity of SERCA.

    Calcium homoeostasis modulator 1 (CALHM1) reduces the calcium content of the endoplasmic reticulum (ER) and triggers ER stress.
    Gallego-Sandín S, Alonso MT, García-Sancho J.

    09/24/2011
    These results indicate that the CALHM1 Pro86Leu polymorphism may modulate age of onset of Alzheimer's disease by interacting with the effect of the epsilon4 allele of apolipoprotein E.

    The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
    Lambert JC, Sleegers K, González-Pérez A, Ingelsson M, Beecham GW, Hiltunen M, Combarros O, Bullido MJ, Brouwers N, Bettens K, Berr C, Pasquier F, Richard F, Dekosky ST, Hannequin D, Haines JL, Tognoni G, Fiévet N, Dartigues JF, Tzourio C, Engelborghs S, Arosio B, Coto E, De Deyn P, Del Zompo M, Mateo I, Boada M, Antunez C, Lopez-Arrieta J, Epelbaum J, Schjeide BM, Frank-Garcia A, Giedraitis V, Helisalmi S, Porcellini E, Pilotto A, Forti P, Ferri R, Delepine M, Zelenika D, Lathrop M, Scarpini E, Siciliano G, Solfrizzi V, Sorbi S, Spalletta G, Ravaglia G, Valdivieso F, Vepsäläinen S, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Hanon O, Piccardi P, Annoni G, Mann D, Marambaud P, Seripa D, Galimberti D, Tanzi RE, Bertram L, Lendon C, Lannfelt L, Licastro F, Campion D, Pericak-Vance MA, Soininen H, Van Broeckhoven C, Alpérovitch A, Ruiz A, Kamboh MI, Amouyel P, Lambert JC, Sleegers K, González-Pérez A, Ingelsson M, Beecham GW, Hiltunen M, Combarros O, Bullido MJ, Brouwers N, Bettens K, Berr C, Pasquier F, Richard F, Dekosky ST, Hannequin D, Haines JL, Tognoni G, Fiévet N, Dartigues JF, Tzourio C, Engelborghs S, Arosio B, Coto E, De Deyn P, Del Zompo M, Mateo I, Boada M, Antunez C, Lopez-Arrieta J, Epelbaum J, Schjeide BM, Frank-Garcia A, Giedraitis V, Helisalmi S, Porcellini E, Pilotto A, Forti P, Ferri R, Delepine M, Zelenika D, Lathrop M, Scarpini E, Siciliano G, Solfrizzi V, Sorbi S, Spalletta G, Ravaglia G, Valdivieso F, Vepsäläinen S, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Hanon O, Piccardi P, Annoni G, Mann D, Marambaud P, Seripa D, Galimberti D, Tanzi RE, Bertram L, Lendon C, Lannfelt L, Licastro F, Campion D, Pericak-Vance MA, Soininen H, Van Broeckhoven C, Alpérovitch A, Ruiz A, Kamboh MI, Amouyel P., Free PMC Articles: PMC2964875, PMC2964875

    09/3/2011
    The results of this study provide the first evidence that the SNP rs11191692 in CALHM1 confers highly increased susceptibility to temporal lobe epilepsy.

    A polymorphism in CALHM1 is associated with temporal lobe epilepsy.
    Lv RJ, He JS, Fu YH, Shao XQ, Wu LW, Lu Q, Jin LR, Liu H.

    08/13/2011
    This study demonistrated that CALHM1 allele (13.5% vs 16.7%) and genotype frequency was not significantly different between Alzheimer's disease (AD) and controls.

    CALHM1 variant is not associated with Alzheimer's disease among Asians.
    Tan EK, Ho P, Cheng SY, Yih Y, Li HH, Fook-Chong S, Lee WL, Zhao Y.

    07/23/2011
    the CALHM1 P86L common variant may not influence Alzheimer disease risk in Japanese

    The P86L common allele of CALHM1 does not influence risk for Alzheimer disease in Japanese cohorts.
    Inoue K, Tanaka N, Yamashita F, Sawano Y, Asada T, Goto YI.

    01/1/2011
    Meta-analysis of gene-disease association and gene-gene interaction. (HuGE Navigator)

    The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study.
    Lambert JC, Sleegers K, González-Pérez A, Ingelsson M, Beecham GW, Hiltunen M, Combarros O, Bullido MJ, Brouwers N, Bettens K, Berr C, Pasquier F, Richard F, Dekosky ST, Hannequin D, Haines JL, Tognoni G, Fiévet N, Dartigues JF, Tzourio C, Engelborghs S, Arosio B, Coto E, De Deyn P, Del Zompo M, Mateo I, Boada M, Antunez C, Lopez-Arrieta J, Epelbaum J, Schjeide BM, Frank-Garcia A, Giedraitis V, Helisalmi S, Porcellini E, Pilotto A, Forti P, Ferri R, Delepine M, Zelenika D, Lathrop M, Scarpini E, Siciliano G, Solfrizzi V, Sorbi S, Spalletta G, Ravaglia G, Valdivieso F, Vepsäläinen S, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Hanon O, Piccardi P, Annoni G, Mann D, Marambaud P, Seripa D, Galimberti D, Tanzi RE, Bertram L, Lendon C, Lannfelt L, Licastro F, Campion D, Pericak-Vance MA, Soininen H, Van Broeckhoven C, Alpérovitch A, Ruiz A, Kamboh MI, Amouyel P, Lambert JC, Sleegers K, González-Pérez A, Ingelsson M, Beecham GW, Hiltunen M, Combarros O, Bullido MJ, Brouwers N, Bettens K, Berr C, Pasquier F, Richard F, Dekosky ST, Hannequin D, Haines JL, Tognoni G, Fiévet N, Dartigues JF, Tzourio C, Engelborghs S, Arosio B, Coto E, De Deyn P, Del Zompo M, Mateo I, Boada M, Antunez C, Lopez-Arrieta J, Epelbaum J, Schjeide BM, Frank-Garcia A, Giedraitis V, Helisalmi S, Porcellini E, Pilotto A, Forti P, Ferri R, Delepine M, Zelenika D, Lathrop M, Scarpini E, Siciliano G, Solfrizzi V, Sorbi S, Spalletta G, Ravaglia G, Valdivieso F, Vepsäläinen S, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Hanon O, Piccardi P, Annoni G, Mann D, Marambaud P, Seripa D, Galimberti D, Tanzi RE, Bertram L, Lendon C, Lannfelt L, Licastro F, Campion D, Pericak-Vance MA, Soininen H, Van Broeckhoven C, Alpérovitch A, Ruiz A, Kamboh MI, Amouyel P., Free PMC Articles: PMC2964875, PMC2964875

    12/5/2010
    This study for the first time finds that the GOLPH2 modifies the ApoE[varepsilon]4-associated risk of Alzheimer's disease.

    Association between the polymorphisms of CALHM1 and GOLPH2 genes and Alzheimer's disease.
    Lin K, Tang M, Han H, Guo Y, Lin Y, Ma C.

    11/6/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
    Corneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, Nalls MA, Chen K, Lee W, Chewning K, Villa SE, Meechoovet HB, Gerber JD, Frost D, Benson HL, O'Reilly S, Chibnik LB, Shulman JM, Singleton AB, Craig DW, Van Keuren-Jensen KR, Dunckley T, Bennett DA, De Jager PL, Heward C, Hardy J, Reiman EM, Huentelman MJ., Free PMC Article

    09/15/2010
    This study failed to show an association between theeight SNPs of the CALHM1 genes and alzheimer disease.

    Genetic association between CALHM1, 2, and 3 polymorphisms and Alzheimer's disease in a Japanese population.
    Shibata N, Kuerban B, Komatsu M, Ohnuma T, Baba H, Arai H.

    09/13/2010
    The CALHM1-P86L polymorphism is associated with Alzheimer's disease in the ethnic Chinese Han population.

    CALHM1 P86L polymorphism is a risk factor for Alzheimer's disease in the Chinese population.
    Cui PJ, Zheng L, Cao L, Wang Y, Deng YL, Wang G, Xu W, Tang HD, Ma JF, Zhang T, Ding JQ, Cheng Q, Chen SD.

    08/16/2010
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