Ask about this productRelated genes to: Atp11c antibody
- Gene:
- ATP11C NIH gene
- Name:
- ATPase phospholipid transporting 11C
- Previous symbol:
- -
- Synonyms:
- ATPIG, ATPIQ
- Chromosome:
- Xq27.1
- Locus Type:
- gene with protein product
- Date approved:
- 2000-09-25
- Date modifiied:
- 2016-06-28
Related products to: Atp11c antibody
Related articles to: Atp11c antibody
- SARS-CoV-2 infection extends beyond the respiratory tract, with the oral cavity emerging as a critical site of viral activity shaped by epithelial receptor expression, microbial interactions, and inflammatory status. Periodontal disease (PD), a chronic dysbiotic condition, may heighten susceptibility to SARS-CoV-2 through inflammation-driven upregulation of non-canonical viral entry pathways. In this study, we investigated genes in the phosphatidylserine (PS)-dependent pathway, including ADAM17, ATP11c, TIM1, TIM3, and TIM4, in gingival tissue, saliva, and oral keratinocytes to define how PD and SARS-CoV-2 coordinately modulate oral viral entry mechanisms. Prepandemic gingival biopsies revealed significant upregulation of all non-canonical receptors in inflamed tissue, indicating that PD alone establishes a permissive molecular environment for PS-mediated microbial entry. In a post-vaccination cohort, salivary expression of these receptors was markedly elevated in COVID-19-positive individuals with PD, accompanied by significantly increased salivary PS levels, suggesting synergistic effects of viral exposure and periodontal inflammation. co-infection of primary human oral keratinocytes with SARS-CoV-2 and periodontal pathogens ( , ) induced robust, synergistic activation of PS-dependent entry genes, particularly TIM family receptors. Together, these findings identify PS and its associated receptors as inflammation-responsive mediators that expand SARS-CoV-2 entry routes in the oral mucosa. This work highlights a mechanistic intersection between COVID-19 and periodontal disease, with implications for viral persistence, immune dysregulation, and long-term oral health outcomes. - Source: PubMed
Publication date: 2026/04/13
Valverde AraceliCapistrano KristelleNaqvi Raza AliElshourbagy SarahEtminan SodabehSandoval GloriaBambrilla MariaNares SalvadorShukla DeepakSchwartz JoelNaqvi Afsar - Gilbert syndrome (GS) is the main cause of benign unconjugated hyperbilirubinaemia. However, total bilirubin levels higher than those usually observed in GS, or the presence of associated haematological features, should prompt consideration of additional genetic contributors. We report a case of persistent hyperbilirubinaemia in a patient previously diagnosed with GS whose biochemical profile was not entirely consistent with the expected phenotype. Clinical exome identified a very unusual combined UGT1A1 mutation associated with an ATP11C variant, providing a plausible explanation for the atypical laboratory findings. This report illustrates the potential complexity underlying hereditary hyperbilirubinaemia, highlights the diagnostic value of clinical exome in GS patients with atypical biochemical or haematological findings and expands the phenotypic spectrum of ATP11C-related disease. - Source: PubMed
Publication date: 2026/04/23
Alventosa-Mateu CarlosIbáñez Company MariamLis Chulvi María JoséCervera Zamora JoséFernández-Soro AlejandroLatorre Sánchez MercedesMonzón Torres MargaritaUrquijo Ponce Juan José - The ATP11C gene, localized on X-chromosome, encodes the major phosphatidylserine flippase in human red blood cells (RBCs). Flippases actively transport phospholipids from the outer to the inner leaflet of the lipid bilayer, establishing and maintaining phospholipid asymmetry crucial for cell survival. Variants in ATP11C have been recently associated with a novel form of X-linked congenital hemolytic anemia. In this study, we identified 10 individuals from 7 unrelated families harboring 6 rare, novel variants in the ATP11C gene. Three of the variants were further characterized and functionally validated. Notably, the first variant, p.R467C, was identified in a male neonate presenting with mild hemolytic anemia. The second variant, c.2226-1G>C, was found in a 53-year-old male who was originally suspected of hereditary hemochromatosis. The third variant, p.D609V, was detected in a 68-year-old female with mild anemia. Functional studies revealed reduced ATP11C protein expression, as well as decreased flippase activity both in vitro and in ex vivo RBCs supporting a loss-of-function mechanism. Additionally, in the female patient, we identified skewed X-chromosome inactivation, because of which the pathogenic effect of the heterozygous ATP11C variant became clinically evident. Our study expands the clinical spectrum of ATP11C-related hemolytic anemia, highlighting its association with adult-onset disease and hepatic iron overload. We emphasize the importance of including ATP11C in genetic testing for the diagnosis of hereditary hemolytic anemia and iron metabolism alterations. These findings enhance our understanding of RBCs membrane homeostasis and elucidate the critical role of ATP11C in erythropoiesis and systemic iron regulation. - Source: PubMed
Publication date: 2026/04/22
D'Onofrio VanessaEsposito Federica MariaMarra RobertaRosato Barbara EleniNostroso AntonellaPerrotta AlessiaMatsell EliManno MariangelaIscaro AnthonyDionisi ManuelaMartone StefaniaArcioni FrancescoBarbato AntonioChiariotti LorenzoDella Monica Rosavan Oirschot Brigitte Avan Wijk RichardMolday Robert SIolascon AchilleRusso RobertaAndolfo Immacolata - Exogenous phosphatidylserine (PS) is cytotoxic to Chinese hamster ovary (CHO) cells with a PS-resistant CHO cell mutant exhibiting impaired transbilayer movement of a fluorescent PS analog at the plasma membrane. Here, we demonstrate that both mRNA and protein levels of 14-3-3 zeta are markedly reduced in this mutant, while knockdown of 14-3-3 zeta in wild-type CHO cells confers partial resistance to exogenous PS. Consistently, these knockdown cells display defective transbilayer movement of 1-palmitoyl-2-{6-[(7-nitro-1,3-benz-2-oxadiazol-4-yl) amino] hexanoyl}-sn-glycero-3-phosphoserine (C-NBD-PS). However, 14-3-3 zeta knockdown does not further enhance PS resistance in ATP11C-deficient cells. These findings indicate that 14-3-3 zeta plays a regulatory role in ATP11C-dependent transbilayer movement of PS at the plasma membrane. Impact statement 14-3-3ζ regulates ATP11C-dependent phosphatidylserine (PS) transbilayer movement at the plasma membrane. Reduced 14-3-3ζ impairs PS flipping and confers resistance to exogenous PS in CHO cells, identifying 14-3-3ζ as a key modulator of phospholipid asymmetry and lipid-induced cytotoxicity. - Source: PubMed
Publication date: 2026/04/15
Yamaji-Hasegawa AkikoHattori AkiraTsujimoto MasafumiKobayashi Toshihide - Phosphatidylserine (PS) exposure on the surface of red blood cells (RBC) is a hallmark of membrane asymmetry loss and a prothrombotic signal often induced by oxidative stress and heavy metal toxicity. Mercury (Hg) is known to disrupt cellular redox balance and calcium homeostasis, leading to PS externalization and increased thrombotic risk. Natural antioxidants such as polyphenols may provide protection against these effects. The apple ( Mill. cv. ), a cultivar rich in procyanidins and phenolic compounds, has shown antioxidant and membrane-stabilizing properties. - Source: PubMed
Publication date: 2026/02/23
Perrone PasqualeMoriello ClaudiaAlessio NicolaContri AlbertoManna CaterinaD'Angelo Stefania