Ask about this productRelated genes to: THAP11 antibody
- Gene:
- THAP11 NIH gene
- Name:
- THAP domain containing 11
- Previous symbol:
- -
- Synonyms:
- HRIHFB2206, CTG-B45d, CTG-B43a
- Chromosome:
- 16q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-10-08
- Date modifiied:
- 2015-08-26
Related products to: THAP11 antibody
Related articles to: THAP11 antibody
- During mouse embryogenesis, three sequential waves of cell polarization occur in the 8-cell-morula trophectoderm (TE), E3.5-E4.5 primitive endoderm (PrE), and E4.5-E5.5 epiblast (Epi), driving cell fate determination and morphogenic events that lay the foundation for embryonic development. However, it is not clear whether a general regulator that functions in all three waves of polarization exist. Here, we demonstrate that transcriptional factor THAP11 is such a general regulator. Using a novel mouse model combining genetic knockout and an inducible degron system, we demonstrate that stage-specific acute THAP11 depletion causes the failure of the three waves cell polarization, resulting in defective blastocyst formation, PrE maturation, and Epi lumenogenesis, respectively. Mechanistically, THAP11 does not directly regulate pluripotency genes but drive polarization through both stage-specific and conserved chromatin-bindings that commonly activate polarity programs, including Golgi vesicle transport. THAP11 activates polarity genes by promoting chromatin accessibility at their promoters. THAP11, together with stage-specific regulators, sequentially paces the timing of cell polarization. Collectively, our study establishes THAP11 as a general regulator of embryonic morphogenesis. - Source: PubMed
Publication date: 2026/09/22
Yang QianyingJiang ShanWang BoyanZhang Yi - Hereditary ataxias are clinically and genetically heterogeneous, which complicates clinical management, genetic counseling, and scientific research. Efficient molecular diagnosis is essential but requires molecular epidemiological considerations due to the variable genetic landscapes across regions and populations. In China, despite the established predominance of spinocerebellar ataxia type 3 (SCA3), comprehensive data on the genetic landscape of hereditary ataxias are limited and increasingly outdated, leaving insufficient evidence to support an epidemiology-informed molecular diagnostic strategy and its clinical implementation as a diagnostic algorithm. - Source: PubMed
Publication date: 2026/09/29
Yu Jin-YangSun Yi-MinDong YiWu Jian-JunZhu Chen-HaoDu Yi-ChuZhang Yi-XinZhang YueZou Sheng-MeiMa YinDong Hai-LinWu Zhi-Ying - K63-linked ubiquitination (K63) is closely associated with the interaction, intracellular trafficking or activity of tagged proteins. However, its role during metabolic dysfunction-associated steatohepatitis (MASH) is largely unknown. Here we show that UBE2N, a ubiquitin-conjugating enzyme that specializes in creating K63, is downregulated by THAP11 in human and mouse hepatocytes with MASH. While hepatocyte-specific Ube2n deficiency exacerbates western diet-induced MASH and fibrosis via PANoptosis and impaired mitophagy, its overexpression reverses these pathological phenotypes and restores hepatic homeostasis. Mechanistically, UBE2N increases PARKIN-mediated K63-p62 at lysine 420, promoting K63-p62 translocation into damaged mitochondria for mitophagic clearance. Ube2n deficiency, conversely, induces cytoplasmic p62 accumulation and NRF2 hyperactivation, driving PANoptosis. Additional Sqstm1 deletion mitigates Ube2n deletion-induced pathologies, highlighting the importance of p62 accumulation for MASH progression. Thus, our results demonstrate that hepatocyte UBE2N is essential for regulation of metabolic stress-mediated mitophagy and PANoptosis, and that p62 is a proof-of-concept target for treating MASH and fibrosis. - Source: PubMed
Publication date: 2026/09/04
Wang FengLee JinPark Jeong-SuHuang MeizhouMa HwanSui GuoyanZhou ZixiongMatsuda MichitakaKim So YeonTsuchiya TakashiWu XuefengLee HaramOh SoohwanPark HanseulLim Key-HwanPark Chun-WoongHan Sang-BaeHong Jin TaeKarin MichaelRoh Yoon SeokSeki Ekihiro - The Thanatos-associated (THAP) protein family, named after the Greek god of death, comprises zinc-finger proteins characterized by a DNA-binding domain called the THAP domain. Although THAP1 and THAP11 have been extensively studied, the broader family of twelve human THAP-domain containing proteins is increasingly recognized as an important but underexplored group of transcriptional regulators. Evidence now links THAP proteins to a wide range of cellular processes, including cell-cycle progression, DNA repair, apoptosis, proteostasis, and mitochondrial function. Dysregulation of these proteins has also been implicated in cancer and neurological disorders, underscoring their medical relevance. In this review, we summarize current knowledge of their structure, localization, transcriptional roles, and disease associations. We also present new structural analyses that shed light on conserved and divergent features across the THAP family. Finally, we will highlight their newly appreciated functions in stem and progenitor cell biology. - Source: PubMed
Publication date: 2026/07/08
Rampal BryceBrisson AlexandreBen Hamou Kuijpers LouiseCappadocia LaurentSamarut Éric - Expanded short tandem repeats contribute to a broad spectrum of neurodegenerative diseases, yet their roles in Parkinson's disease (PD) and parkinsonism remain incompletely characterized, especially across diverse ancestries. We analyzed short-read whole-genome (WGS) and clinical exome sequencing (CES) data from 38,365 individuals (28,861 WGS; 9,504 CES), encompassing 23,242 patients with PD, 4,729 patients with atypical parkinsonism and 10,394 healthy controls from 11 genetic ancestries. To determine carrier frequencies and characterize repeat structures across diverse ancestries, we genotyped 12 established pathogenic loci where normal, intermediate, and pathogenic alleles can be reliably differentiated using short-read sequencing data. Additionally, we conducted threshold-based associations to determine the minimum threshold associated with increased PD risk in 15,995 individuals (8,591 PD, 7,404 controls) of European ancestry. Pathogenic repeat expansions were detected in 62 patients (56 PD and 6 atypical parkinsonism) and 5 controls across seven loci ( and ), spanning seven ancestries. Among these, expansions were the most frequently observed in PD and were present in African, East Asian, European and Middle Eastern ancestries. Additionally, intermediate repeat expansions exhibited a strong, length-dependent association with PD risk in the European population, with individuals with ≥32 repeats having a more than four-fold increased risk (odds ratio 4.25, 95% confidence interval 1.80-12.05). Overall, >92% of expanded alleles harbor CAA interruptions within the CAG tract. Pathogenic expansions at other loci, such as and , showed more ancestry-specific distributions. Clinically, individuals with pathogenic and expansions most often presented with typical PD features but frequently showed earlier disease onset and a strong family history of PD. This large-scale, multi-ancestry study comprehensively maps the genetic landscape of pathogenic and intermediate repeat expansions in PD. Our findings confirm a length- and structure-dependent risk association for with PD in the European population and highlight the pleiotropic effects of repeat expansions across the parkinsonian spectrum. - Source: PubMed
Publication date: 2026/06/22
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