ATP6V1A
- Known as:
- ATP6V1A
- Catalog number:
- 002228A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ATP6V1A
Related genes to: ATP6V1A
- Gene:
- ATP6V1A NIH gene
- Name:
- ATPase H+ transporting V1 subunit A
- Previous symbol:
- VPP2, ATP6A1, ATP6V1A1
- Synonyms:
- Vma1, VA68
- Chromosome:
- 3q13.31
- Locus Type:
- gene with protein product
- Date approved:
- 1990-07-03
- Date modifiied:
- 2016-02-11
Related products to: ATP6V1A
anti-ATP6V1Aanti-ATP6V1Aanti-ATP6V1A (4F5)anti-ATP6V1A (4F5)anti-ATP6V1A (4F5)anti-ATP6V1A (4F5) type: Primary antibodies host: MouseAnti-ATP6V1A (4F5), Mouse Monoclonal to ATP6V1A, Isotype IgG1, Host Mouseanti-ATP6V1A type: Primary antibodies host: MouseAtp6a1,Atp6a2,Atp6v1a,Atp6v1a1,Mouse,Mus musculus,Vacuolar proton pump subunit alpha,V-ATPase 69 kDa subunit,V-ATPase subunit A,V-type proton ATPase catalytic subunit AATP6A1,ATP6V1A,ATP6V1A1,Bos taurus,Bovine,Vacuolar proton pump subunit alpha,V-ATPase 69 kDa subunit,V-ATPase subunit A,V-type proton ATPase catalytic subunit AATP6A1,ATP6V1A,ATP6V1A1,Homo sapiens,Human,Vacuolar ATPase isoform VA68,Vacuolar proton pump subunit alpha,V-ATPase 69 kDa subunit,V-ATPase subunit A,VPP2,V-type proton ATPase catalytic subunit AATP6A1,ATP6V1A,ATP6V1A1,Pig,Sus scrofa,Vacuolar proton pump subunit alpha,V-ATPase 69 kDa subunit,V-ATPase subunit A,V-type proton ATPase catalytic subunit AATP6V0E1 Gene ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1ATP6V1A antibody Host rabbitATP6V1A antibody Host Rabbit Related articles to: ATP6V1A
- Functional magnetic resonance imaging (fMRI) has revealed abnormal brain activity patterns in stroke patients, yet the genetic correlates underlying functional homotopy - defined as synchronized spontaneous activity between bilateral homologous brain regions - remain poorly characterized. This study investigates the genetic basis of voxel-mirrored homotopic connectivity (VMHC) abnormalities in stroke patients. - Source: PubMed
Publication date: 2026/08/26
Chen Ri-BoHe Yu-XuanHuang XinWang Chang - Drug-resistant epilepsy (DRE) in children is linked to poor developmental outcomes and increased mortality. Genetic factors are increasingly recognized in its pathogenesis, and whole- exome sequencing (WES) offers a promising diagnostic tool for early intervention, especially in cases with unclear etiology. However, data on the genetic causes of pediatric DRE remain scarce in Indonesia, a low-resource setting with limited access to advanced genetic testing. We conducted a retrospective review at the Neuropediatric Clinic of Sardjito Hospital, Yogyakarta, Indonesia, from January to December 2024. Children aged 0-18 years at the time of epilepsy diagnosis or genetic testing were included. WES was performed for all patients, and in cases with positive findings, Sanger sequencing was used to confirm variants in parents and siblings. WES identified pathogenic or likely pathogenic variants in 3 of 10 patients, with one patient harboring three variants. In total, three pathogenic or likely pathogenic variants were identified in TSC2, CC2D2A, and WDFY3, and two variants of uncertain significance were identified in CC2D2A and ATP6V1A. Among the five variants, two were missense mutations, two were nonsense mutations, and one was a frameshift mutation. WES can yield a definitive genetic diagnosis in a subset of patients, enabling individualized management, facilitating genetic counseling, and reducing the need for further diagnostic investigations. - Source: PubMed
Publication date: 2026/08/31
Herini Elisabeth SitiTriono AgungIskandar KristyNugrahanto Andika PriamasDamroni Rais AliffandyMooiindie Khansadhia HasmaradanaTimoti Joshua - Recent clinical trials have shown that dual GLP-1R/GCGR agonists, including mazdutide and cotadutide, provide kidney benefits in patients with type 2 diabetes and CKD, suggesting a potential contribution of GCGR activation to these renal effects. However, whether GCGR directly confers renoprotection and the underlying mechanisms remain unclear. Here, using tubule-specific GCGR loss- and gain-of-function mouse models and human kidney samples, we show that tubular GCGR signaling exerts an important renoprotective role in DKD. Tubular GCGR expression is reduced in humans and mice with DKD and correlates with worse kidney function and increased renal injury. Genetic ablation of tubular GCGR markedly exacerbates DKD and induces pronounced phospholipid accumulation within enlarged lysosomes. Mechanistically, GCGR loss disrupts its association with the V-ATPase V1A subunit ATP6V1A, compromises V1-V0 assembly, and thereby impairs lysosomal acidification. This defect leads to impaired phospholipid hydrolysis and protease maturation, blockade of autophagic flux, and ultimately tubular cell injury. In vivo, ATP6V1A overexpression markedly reverses GCGR deficiency-induced lysosomal dysfunction and DKD progression. Consistently, re-expression of tubular GCGR via AAV9 restores lysosomal function, reduces phospholipid accumulation, and mitigates renal injury in DKD. Together, these findings provide genetic evidence for the renoprotective role of tubular GCGR in DKD, delineate a kidney-intrinsic GCGR-ATP6V1A-lysosome axis that protects tubular integrity, and extend prior GCGR-in-kidney observations into a more concrete GCGR-lysosome mechanism. - Source: PubMed
Publication date: 2026/08/05
Qu HuaXu MingyueDu PanZhang LinlinWang WensiLiu XiufeiZhu JiaranTian ChenfuHe QingshanLi JuTao YiwenGong ZhengyuanYang QingwuZheng YiZheng Hongting - The self-renewal and differentiation of stem cells are tightly controlled to maintain tissue homeostasis. Failure in stem cell maintenance results in stem cell depletion and precocious aging. However, how stem cells are maintained still remains not fully understood. Here, through a large-scale RNAi screen for maintenance and proliferation of adult intestinal stem cells (ISCs), we identify several subunits of V-ATPase including Vha68-2/ATP6V1A, required for ISC proliferation, differentiation and tissue regeneration. Inactivation of Vha68-2 results in accumulation of plasma membrane (PM)-derived structures in autophagosomes and lysosomes through Atg16 and Rab5. Furthermore, defective ISCs undergo direct differentiation due to ectopic Notch activation. Mechanistically, Vha68-2 facilitates Notch receptor internalization and subsequent degradation in autolysosomes to quench ectopic Notch activation, thereby maintaining ISC fate. Truncated Notch product devoid of its extracellular domain is accumulated in autolysosomes upon Vha68-2 deficiency. The Notch products accumulated in autolysosomes still require further cleavage to drive ISC differentiation. The functions of Vha68-2 in macroautophagy/autophagy and ISC maintenance are evolutionarily conserved. Our results provide new insights into the underlying mechanism of how autophagy is involved in stem cell maintenance under physiological conditions. aph-1: anterior pharynx defective 1; ATP6V1A: ATPase H+ transporting V1 subunit A; CASM: conjugation of ATG8s to single membranes; EB: enteroblast; EC: absorptive enterocyte; ER: endoplasmic reticulum; ISC: intestinal stem cell; kuz: kuzbanian; LTDR: LysoTracker Deep Red; LTR: LysoTracker Red; MARCM: mosaic analysis with a repressible cell marker; NECD: Notch extracellular domain; NICD: Notch intracellular domain; PM: plasma membrane; PAS: phagophore assembly site; SNARE: soluble N-ethylmaleimide-sensitive factor-attachment protein receptor; TEM: transmission electron microscopy; TM: tunicamycin. - Source: PubMed
Publication date: 2026/08/03
Li ZhengranZhao HuiqingZhang DanjieWei JingLiu Xiyue TaoKong RuiyanRen XuejingZhao HangFang XiaominFu JingyanLi Zhouhua - Epididymal epithelial cells are critical for sperm maturation. Although previous studies have determined the development of epididymal epithelial cells in rat epididymis, the postnatal developmental trajectories of distinct epithelial cell types in the mouse epididymis remain elusive. Here, we examined the developmental timeline of mouse epididymal epithelium differed from that of the rat by confocal immunostaining and single-cell RNA sequencing (scRNA-seq). In mice, principal and basal cells appeared as early as postnatal day 7 (PD7) across all segments, labeled by AQP9 and KRT5, in contrast to the later emergence in rats (e.g., basal cells at PD14 in rat cauda). ATP6V1A-positive clear cells were detected at PD28 in caput, corpus, and cauda but not in the initial segment, while narrow cells were observed in all segments beginning at PD14. These contrasted with the rat, in which clear cells appeared at PD14. Notably, scRNA-seq and immunostaining identified a previously unrecognized KRT5⁺/ATP6V1A⁺ narrow-like basal cell subpopulation, enriched in lysosomes and mainly localized to the caput and corpus. These findings revealed an earlier epithelial maturation in mice compared to rats, underscoring the importance of choosing animal models. The newly identified basal subpopulation may contribute to luminal acidification and homeostasis, offering new insights into epididymal physiology and reproductive biology. - Source: PubMed
Publication date: 2026/07/17
Li HuixiaXie TaoranYLChan DavidFok Ellis Kin LamZuo LiandongXie GangcaiSha QianqianChen Hao