Ask about this productRelated genes to: ATP6AP1 Blocking Peptide
- Gene:
- ATP6AP1 NIH gene
- Name:
- ATPase H+ transporting accessory protein 1
- Previous symbol:
- ATP6S1, ATP6IP1
- Synonyms:
- ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2
- Chromosome:
- Xq28
- Locus Type:
- gene with protein product
- Date approved:
- 1998-01-23
- Date modifiied:
- 2016-02-11
Related products to: ATP6AP1 Blocking Peptide
Related articles to: ATP6AP1 Blocking Peptide
- Granular cell dermatofibroma (GCDF) is a unique histopathological variant of dermatofibroma, characterized by a portion of the lesion composed of cells with abundant granular cytoplasm, resembling granular cell tumors (GCT). GCTs are associated with mutations in V-ATPase component genes; however, the pathogenesis and molecular alterations in GCDF remain uncharacterized. We performed whole exome sequencing on six GCDF cases. Comparative whole exome sequencing analysis of lesional and paired control tissues was conducted to identify genetic mutations in GCDF. Three of the six cases (50%) of GCDF harbored mutations in V-ATPase component genes, including ATP6AP1, ATP6V0C, and ATP6AP2. These findings expand the spectrum of tumors associated with V-ATPase mutations. It is important for dermatopathologists to be aware of clinical, histopathological, and molecular findings in GCDF, and to differentiate these from atypical or malignant GCT, as GCDF are benign and do not need aggressive surgical management. - Source: PubMed
Publication date: 2026/05/11
Jiang XingyuanHu RonghuaChoate Keith APanse Gauri - Mycolactone is the virulence toxin of Mycobacterium ulcerans, causative agent of Buruli ulcer. Mycolactone inhibits the Sec61-dependent co-translational translocation of signal peptide-bearing secreted and membrane proteins into the endoplasmic reticulum. Sec61 inhibition leads to accumulation of mislocalised proteins in the cytosol and initially triggers an integrated stress response-dependent activation of autophagy that contributes to cell survival. Here we show sustained exposure to mycolactone blocks late-stage autophagy and induces nuclear translocation of the lysosomal stress marker TFEB. This follows loss of ATP6AP1 and ATP6AP2, Sec61-substrates required for assembly of the Vacuolar-ATPase, leading to reduced lysosomal biogenesis and acidification. These effects are reduced in cells expressing a mycolactone-resistant Sec61α mutant and phenocopied by other Sec61 inhibitors. Loss of lysosomal function compromises the cell's capacity to withstand the proteostatic stress caused by Sec61 inhibition and could impair the ability of phagocytes to combat infection with M. ulcerans and contribute to the tissue necrosis in Buruli ulcer. Furthermore, since Sec61 inhibition is being pursued as a therapeutic target in several diseases, potential drugs should be screened against this activity to avoid unwanted side-effects. - Source: PubMed
Publication date: 2026/04/21
Hall Belinda SOwusu-Boateng KwabenaMcPhail Kerry LShi Wei QSimmonds Rachel E - To investigate the expression level of ATPase H transporting accessory protein 1 (ATP6AP1) in hepatocellular carcinoma (HCC) lines and its effect on cell proliferation and migration, providing a new target for the treatment of HCC. Real-time quantitative polymerase chain reaction (RT-PCR) was used to detect the differential expression of ATP6AP1 in normal hepatocyte line L02 and hepatocellular carcinoma line HepG2. An ATP6AP1 knockdown group (KD group) and a negative control group (NC group) were constructed by lentiviral infection. The proliferation and migration abilities were detected by CCK8 cell proliferation and cell scratch assay between the two groups. Independent samples -test was used to analyze the differences between groups. Bioinformatics analysis was performed on the Cancer Genome Atlas (TCGA) databases using Kaplan-Meier Plotter, UALCAN, and GEPIA to explore the differential expression of ATP6AP1 in HCC patients and its impact on prognosis. Bioinformatics results showed that the expression level of ATP6AP1 was significantly higher in HCC tissues than that in normal liver tissues (<0.05). Functional enrichment analysis indicated that ATP6AP1 regulated lysosomal function, intracellular acidification, and the immune microenvironment in HCC progression. RT-PCR results showed that ATP6AP1 mRNA expression was significantly higher in HepG2 liver cancer cells than that in normal hepatocytes L02 (<0.05). The relative expression level of ATP6AP1 mRNA was significantly lower in the KD group (0.18±0.01) than that in the NC group (1.00±0.08) (<0.001). CCK assays showed that the profileration capacity was significantly higher in KD group than that in the NC group from day 3 to day 5 (<0.05), with a significant time-effect relationship (<0.001). Cell scratch assay results showed that the migration rate was significantly higher in the NC group than that of the KD group over time, with a slower scratch repair rate. High expression of ATP6AP1 plays a pro-cancerous role in HCC progression and may serve as a potential biomarker for predicting prognosis and a potential therapeutic target.Therefore, further validation of its mechanism of action in animal models and clinical samples is needed in the future. - Source: PubMed
Yuan QJin Y QCao Y XCheng L JFan H MLiu YYang L - Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer characterized by high metastatic potential, poor prognosis, and limited effective therapeutic options. In this study, we investigated the molecular mechanisms underlying the anticancer effects of the nucleolin (NCL)-targeting DNA aptamer AS1411 using label-free quantitative proteomic profiling. AS1411 treatment significantly reduced TNBC cell viability and migration. To uncover the underlying mechanisms, we performed global proteomic analysis of AS1411-treated TNBC cells. Bioinformatic analysis of differentially expressed proteins (DEPs) revealed enrichment of tumor-associated signaling pathways and protein-protein interaction networks regulated by AS1411. Among the DEPs, ATPase H-transporting accessory protein 1 (ATP6AP1) was markedly downregulated in AS1411-treated TNBC cells. Functional studies demonstrated that ATP6AP1 knockdown suppressed TNBC cell proliferation and migration, whereas its overexpression enhanced tumorigenic phenotypes. Importantly, modulation of ATP6AP1 expression showed minimal effects on normal breast epithelial cells. Collectively, these findings identify ATP6AP1 as a key downstream mediator of AS1411 and support its potential as a therapeutic target in TNBC. - Source: PubMed
Publication date: 2026/03/27
Bae Ha-SongSeo Yun-JeongKim Eun-BiPark Hyoung-MinLiu I-HsuanLee J EugeneKim Jae-Young - Deoxynivalenol (DON) is a prevalent mycotoxin commonly detected in both human and animal diets, representing a significant health risk. Sulforaphane (SFN), a bioactive compound from cruciferous vegetables known for its antioxidant. This study aimed to confirm SFN's protective effect against DON-induced intestinal injury and clarify its underlying molecular mechanism. In vivo, C57BL/6 male mice (n = 8/group) were treated with DON (2 mg/kg BW) and SFN (10 mg/kg BW) to assess the overall protective effects of SFN; in vitro, intestinal porcine epithelial cells (IPEC-J2) and pig intestinal organoids were treated with DON (1 μg/mL) and SFN (2 μM) to investigate the protective mechanism of SFN. Hematoxylin-eosin staining, western blot and flow cytometry were used to confirm the protective effects of SFN. RNA-seq, CETSA, ITDRF and non-targeted metabolomics was employed to investigate the mechanism of SFN supplementation. This study demonstrated that SFN significantly alleviated DON-induced intestinal toxicity: in vivo, SFN restored jejunal villus height/crypt depth and restored the balance of redox homeostasis (decreased MDA, LDH, SOD and CAT); in vitro, SFN lowered DON-induced cell apoptosis and ROS accumulation. Mechanistically, lysosomal function was critical for SFN's protection-SFN directly targeted ATP6AP1 to enhance lysosomal acidification Moreover, ATP supplementation further potentiated this acidification and SFN's cytoprotective effect. This study identified ATP6AP1-mediated lysosomal acidification as a novel mechanism for SFN to mitigate DON-induced intestinal injury. Therefore, investigating the crosstalk between the SFN-ATP6AP1 axis and gut microbiota warrants further investigation to elucidate a broader protective mechanism. - Source: PubMed
Publication date: 2025/12/02
Xiao YeyiZheng XianruiWang JieXu ChaoQiao SuweiYin ZongjunWang HaifeiBao Wenbin