PMID-sentid Pub_year Sent_text comp_official_name comp_offset protein_name organism prot_offset 23843187-3 2014 In this study, we found that TMEM16E was rapidly degraded via the proteasome pathway, which was rescued by inhibition of the PI3K pathway and by the chemical chaperone, sodium butyrate. Butyric Acid 169-184 anoctamin 5 Homo sapiens 29-36 23843187-8 2014 In addition, the GDD-causing cysteine mutation made in TMEM16A drastically altered CaCC activity. Cysteine 29-37 anoctamin 5 Homo sapiens 17-20 23047743-6 2013 To date, only two mutations on the same cysteine residue at position 356 of ANO5 amino-acid sequence have been described in GDD families. Cysteine 40-48 anoctamin 5 Homo sapiens 76-80 15124103-4 2004 Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. Cysteine 201-209 anoctamin 5 Homo sapiens 44-48 15124103-5 2004 Cellular localization to the endoplasmic reticulum suggests a role for GDD1 in the regulation of intracellular calcium homeostasis. Calcium 111-118 anoctamin 5 Homo sapiens 71-75 33688936-3 2021 Here, we show that the ER helps clear this surge in cytoplasmic calcium through an ER-resident calcium pump, SERCA, and a calcium-activated ion channel, Anoctamin 5 (ANO5). Calcium 64-71 anoctamin 5 Homo sapiens 153-164 34841576-3 2022 Here, we generated the first knock-in mouse model for GDD with the expression of human mutation p.Cys360Tyr in ANO5. cys360tyr 98-107 anoctamin 5 Homo sapiens 111-115 35463132-5 2022 One patient was homozygous for a novel splice variant (c.294+5G>A; p.(Ala98Ins4*)) in ANO5. ala98ins4 70-79 anoctamin 5 Homo sapiens 86-90 33688936-3 2021 Here, we show that the ER helps clear this surge in cytoplasmic calcium through an ER-resident calcium pump, SERCA, and a calcium-activated ion channel, Anoctamin 5 (ANO5). Calcium 64-71 anoctamin 5 Homo sapiens 166-170 33688936-6 2021 ANO5 deficit in limb girdle muscular dystrophy 2L (LGMD2L) patient cells compromises their cytosolic and ER calcium homeostasis. Calcium 108-115 anoctamin 5 Homo sapiens 0-4 33688936-6 2021 ANO5 deficit in limb girdle muscular dystrophy 2L (LGMD2L) patient cells compromises their cytosolic and ER calcium homeostasis. Calcium 108-115 anoctamin 5 Homo sapiens 51-57 33688936-7 2021 By generating a mouse model of LGMD2L, we find that PM injury causes cytosolic calcium overload and compromises the ability of ANO5-deficient myofibers to repair. Calcium 79-86 anoctamin 5 Homo sapiens 31-37 30996299-6 2019 The p.C356W mutation may damage the predicted protein stability of ANO5 by altering the structure of several extracellular loops of ANO5 and affecting the formation of the disulfide bond, thereby disrupting the correct folding of ANO5 protein. Disulfides 172-181 anoctamin 5 Homo sapiens 67-71 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. Cysteine 141-149 anoctamin 5 Homo sapiens 21-28 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. Cysteine 141-149 anoctamin 5 Homo sapiens 30-34 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. N-acetylmethionine 182-191 anoctamin 5 Homo sapiens 21-28 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. N-acetylmethionine 182-191 anoctamin 5 Homo sapiens 30-34 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. Serine 193-199 anoctamin 5 Homo sapiens 21-28 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. Serine 193-199 anoctamin 5 Homo sapiens 30-34 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. DL-ALANINE 201-207 anoctamin 5 Homo sapiens 21-28 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. DL-ALANINE 201-207 anoctamin 5 Homo sapiens 30-34 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. Cysteine 141-148 anoctamin 5 Homo sapiens 21-28 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. Cysteine 141-148 anoctamin 5 Homo sapiens 30-34 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. DL-Glutamine 220-228 anoctamin 5 Homo sapiens 21-28 32517157-5 2020 Here, we report that TMEM16E (ANO5), -H (ANO8), -J (ANO9) and K (ANO10) are targeted to the plasma membrane when fused to a C-terminal CAAX (cysteine, two aliphatic amino acids plus methionin, serine, alanin, cystein or glutamin) motif. DL-Glutamine 220-228 anoctamin 5 Homo sapiens 30-34 31680776-0 2019 Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca2+ signaling of differentiated C2C12 myotubes. Calcium 80-84 anoctamin 5 Homo sapiens 14-25 31680776-0 2019 Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca2+ signaling of differentiated C2C12 myotubes. Calcium 80-84 anoctamin 5 Homo sapiens 26-33 31680776-2 2019 However, it is a matter of debate whether ANO5 functions as a genuine plasma membrane chloride channel. Chlorides 86-94 anoctamin 5 Homo sapiens 42-46 31680776-8 2019 ANO5-KD impaired depolarization-induced [Ca2+]i transient and reduced sarcoplasmic reticulum (SR) Ca2+ storage. Calcium 41-45 anoctamin 5 Homo sapiens 0-4 31680776-8 2019 ANO5-KD impaired depolarization-induced [Ca2+]i transient and reduced sarcoplasmic reticulum (SR) Ca2+ storage. Calcium 98-102 anoctamin 5 Homo sapiens 0-4 31680776-9 2019 ANO5-KD resulted in reduced protein expression of the dihydropyridine receptor (DHPR) and SR Ca2+-ATPase subtype 1. Calcium 93-97 anoctamin 5 Homo sapiens 0-4 31680776-10 2019 In addition, ANO5-KD compromised co-localization between DHPR and ryanodine receptor subtype 1. Ryanodine 66-75 anoctamin 5 Homo sapiens 13-17 31680776-11 2019 It is concluded that ANO5-KD causes nuclear positioning defect by reduction of Kif5b expression, and compromises Ca2+ signaling by downregulating the expression of DHPR and SERCA proteins. Calcium 113-117 anoctamin 5 Homo sapiens 21-25 31341644-0 2019 Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. Calcium 13-20 anoctamin 5 Homo sapiens 68-79 31341644-0 2019 Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. Calcium 13-20 anoctamin 5 Homo sapiens 80-87 29124309-3 2018 We show here that human TMEM16E, when overexpressed in mammalian cell lines, displayed partial plasma membrane localization and gave rise to phospholipid scrambling (PLS) as well as non-selective ionic currents with slow time-dependent activation at highly depolarized membrane potentials. Phospholipids 141-153 anoctamin 5 Homo sapiens 24-31 30257928-3 2018 Here, we show that heterologous overexpression of ANO5 confers Ca2+-dependent phospholipid scrambling to HEK-293 cells and that scrambling is associated with the simultaneous development of a nonselective ionic current. Phospholipids 78-90 anoctamin 5 Homo sapiens 50-54