Ask about this productRelated genes to: ATP6V1B1 antibody
- Gene:
- ATP6V1B1 NIH gene
- Name:
- ATPase H+ transporting V1 subunit B1
- Previous symbol:
- VPP3, ATP6B1
- Synonyms:
- VATB, RTA1B, Vma2
- Chromosome:
- 2p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1990-07-03
- Date modifiied:
- 2019-04-23
Related products to: ATP6V1B1 antibody
Related articles to: ATP6V1B1 antibody
- This study aims to provide new insights in understanding the genetic association between sensorineural hearing loss with distal renal tubular acidosis (RTA) and to add ATP6V1B1 to the list of known genes causing "Pendred ear phenotype". - Source: PubMed
Publication date: 2026/06/30
Prasad Sandeep GovindanClement EmmaLequin M HD'Arco Felice - Type 4 renal tubular acidosis (RTA) is a common disorder characterized by hyperkalemic non-anion gap metabolic acidosis. Although type 4 RTA is generally attributed to impaired renal ammoniagenesis induced by hyperkalemia, whether defects in distal nephron acidification contribute to its pathophysiology remains unclear. Here, we investigated alterations in distal nephron acidification machinery in Kelch-like 3 knock-in (KLHL3-KI) mice, a genetically engineered model of pseudohypoaldosteronism type II. KLHL3-KI mice exhibited hyperkalemia, hyperchloremia, and reduced serum bicarbonate levels, consistent with type 4 RTA. Phosphoenolpyruvate carboxykinase (PEPCK), a key enzyme involved in proximal tubular ammoniagenesis, was significantly reduced in KLHL3-KI mice as compared with wild-type mice. In addition, ATP6V1B1, a subunit of the vacuolar H-ATPase selectively expressed in intercalated cells, was significantly decreased in membrane fraction. Renal medullary expression of Rh C glycoprotein (RHCG), a major ammonia transporter in the distal nephron, was also reduced. To determine whether these changes were secondary to hyperkalemia, KLHL3-KI mice were fed a low-K diet. Correction of hyperkalemia with a low-K diet significantly increased RHCG abundance, whereas ATP6V1B1 levels remained unchanged. By immunostaining, we found that WNK1 bodies were detected in a subset of ATP6V1B1-positive cells. In sum, these findings demonstrate that distal nephron acidification pathways are dysregulated in KLHL3-KI mice. Whereas RHCG downregulation appears to be potassium-dependent, ATP6V1B1 reduction persists despite correction of hyperkalemia, suggesting the involvement of potassium-independent mechanisms. Our findings raise the possibility that dysregulated KLHL3 signaling contributes to impaired distal nephron acidification in type 4 RTA, which merits further investigation. - Source: PubMed
Publication date: 2026/06/24
Tomomitsu YoshihiroIshizawa KenichiKuribayashi-Okuma EmikoShibata Shigeru - Human naïve pluripotent stem cells (nPSCs) can be induced by various combinations of signaling factors to generate blastocyst-like structures, termed blastoids. Despite rapid progress in human blastoid models, their potential to uncover fundamental mechanisms of early human development remains limited, leaving key morphogenetic processes poorly understood. Here, we describe a simple and robust system in which dimethyl sulfoxide (DMSO) alone induces blastoid formation from human nPSCs. This model recapitulates key pre- and post-implantation features and exhibits enhanced polar trophectoderm (TE) organization, more efficient attachment within an implantation-relevant window, improved epiblast lumenogenesis associated with amniotic cavity formation, and more robust, sustained expansion of embryonic lineages following attachment. Using this system, we reveal a previously unrecognized mechanism underlying TE cavitation and identify lysosome-associated genes - particularly subunits of the proton pump V-ATPase - as essential regulators of blastoid cavitation. DMSO treatment upregulates key V-ATPase subunits (ATP6V0A4 and ATP6V1B1), which are also enriched in the TE of human embryos. Genetic or pharmacological inhibition of V-ATPase activity disrupts lysosomal acidification, blocks intracellular vacuole formation, and impairs blastoid cavitation, whereas overexpression of V-ATPase subunits rescues this phenotype. Furthermore, genetic and pharmacological perturbations of V-ATPase function significantly compromise cavitation in both mouse and human blastocysts. Finally, DMSO treatment induces membrane biomechanical changes characteristic of early embryonic development, suggesting a mode of action distinct from conventional small-molecule, signaling pathway-based induction strategies. This simple DMSO-based blastoid model recapitulates key aspects of human blastocyst development and reveals a conserved requirement for V-ATPase-mediated lysosomal acidification during early mammalian embryogenesis. - Source: PubMed
Publication date: 2026/04/06
Alsolami SamhanChandrasekaran Arun PandianJin YiqingWang YiboZhang LingShakir Ismail MZhang YingziSiddique AishaRamos-Mandujano GerardoYuan BaoleiAyach MayaSaera-Vila AlfonsoFan ZejunFu SiyiZhang HuomingXin SaigeAlDakhil Kholoud KhalidIzpisua Belmonte Juan CarlosZhang JinYu YangLi Mo - Inherited distal renal tubular acidosis (dRTA) is a rare but clinically significant disorder of renal acid-base regulation that frequently presents in infancy or early childhood. Among the genetic causes of autosomal recessive dRTA, mutations in the ATP6V1B1 gene are particularly important due to their association with early-onset disease and sensorineural hearing loss. Failure to recognize and treat this condition promptly can result in growth retardation, bone disease, nephrocalcinosis, chronic kidney disease, and permanent auditory impairment. This article presents a comprehensive review of the pediatric literature concerning dRTA. We focus on the pathophysiology, pediatric presentation, renal and audiological outcomes, genetic architecture, and management implications of ATP6V1B1-associated dRTA in children. We highlight evolving genotype-phenotype correlations, the emerging recognition of autosomal recessive disease mechanisms, and the importance of early diagnosis and long-term multidisciplinary follow-up. - Source: PubMed
Publication date: 2026/03/23
Bot Rachisan Andreea LianaColceriu Marius CosminJecan-Toader DianaBulata BogdanDelean DanSparchez Mihaela - Distal renal tubular acidosis (dRTA) with sensorineural deafness is a rare entity inherited in an autosomal recessive manner caused by mutations in the gene leading to defective acidification function in the distal nephron, cochlea, and endolymphatic sac. We report the case of an 11-year-old Saudi girl with dRTA and congenital sensorineural hearing loss. Genetic testing revealed a homozygous mutation in the gene (c.1037C>G; p.P346R). Both parents were heterozygous carriers. This case highlights the clinical and genetic features of dRTA in a consanguineous family and underscores the importance of early genetic diagnosis and multidisciplinary management. - Source: PubMed
Publication date: 2025/12/06
Alrasheed AbeerAlyabis NoufAlrasheed Soud AAlrasheed Reem