UPF3A Antibody (Center)
- Known as:
- UPF3A Antibody (Center)
- Catalog number:
- AP12579c-ev20
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- UPF3A Antibody (Center)
Related genes to: UPF3A Antibody (Center)
- Gene:
- UPF3A NIH gene
- Name:
- UPF3A regulator of nonsense mediated mRNA decay
- Previous symbol:
- -
- Synonyms:
- RENT3A, UPF3, HUPF3A
- Chromosome:
- 13q34
- Locus Type:
- gene with protein product
- Date approved:
- 2003-02-07
- Date modifiied:
- 2019-01-25
Related products to: UPF3A Antibody (Center)
Related articles to: UPF3A Antibody (Center)
- The nonsense mediated mRNA decay (NMD) pathway is a major regulator of gene expression that is essential for normal development and physiology. NMD is orchestrated by the activities of three core NMD proteins UPF1, UPF2 and UPF3B. While complete loss of function of UPF1 or UPF2 is embryonic lethal, loss of function of UPF3B is viable. In the absence of UPF3B, NMD is thought to be rescued by the redundant functions of the UPF3B paralog UPF3A. However, full redundancy of these paralogs is challenged by the embryonic lethality of UPF3A loss of function, and neurodevelopmental phenotypes observed in humans and mice lacking UPF3B. To compare the functions of the UPF3 paralogs we generated L-cell lines with different relative UPF3A and UPF3B abundances via knockdown and/or overexpression. RNA sequencing of UPF3 manipulated L-cells highlighted a major overlap of transcriptome changes following loss of UPF3A or UPF3B, yet overexpression of UPF3A could not rescue changes caused by loss of UPF3B. This suggested both genes are required for NMD in L-cells in a non-redundant manner. However, despite the general similarity of transcriptome changes, loss of UPF3B caused hyper-proliferation, while loss of UPF3A caused a hypo-proliferation of L-cells, and was associated with discordant activation of mTOR signalling. We observe similar opposing impacts of UPF3 manipulation in the context of neural progenitor cell proliferation and differentiation, and neuronal axon growth. These data suggest that while UPF3A and UPF3B generally act cooperatively to tune the transcriptome, their private or discordant functions can drive major biological impact. - Source: PubMed
Publication date: 2026/06/29
Nawaz UrwahNicolas-Martinez EmmylouMontazaribarforoushi SabaCarroll ReneeVoineagu IrinaGecz JozefJolly Lachlan A - - Source: PubMed
Ma ZhipengZhu PeipeiShi HuiGuo LiweiZhang QingheChen YananChen ShumingZhang ZhePeng JinrongChen Jun - The neural cell adhesion molecule NCAM1 is essential for neuronal development and enables organized cell migration, axon growth, and fasciculation. As a result of genome duplication in zebrafish, the paralogs Ncam1a and Ncam1b arose. Our previously published findings using morpholino knockdown experiments demonstrated the essential role of Ncam1b in the development of the zebrafish lateral line system, a mechanosensory organ critical for detecting water movements. ncam1b morphants exhibited severe defects, including impaired primordium migration, disrupted proneuromast deposition, and reduced cell proliferation within the primordium. These defects were linked to a disrupted interaction between Ncam1b and Fgfr1a, which led to compromised proliferation and abnormal lateral line development. The current study reveals that ncam1b mutants, however, unlike morphants, do not show this severe phenotype. Instead, we observed subtle alterations, including altered FGF and Wnt signaling and a redistribution of proliferating cells within the primordium. Notably, ncam1b mutants displayed elevated levels of the paralog ncam1a mRNA. The knockdown of either ncam1a or upf3a in ncam1b mutants resulted in a phenotype resembling that of ncam1b morphants. Upf3a is a key regulator of genetic compensation, a well-known phenomenon in zebrafish research. This supports the hypothesis that upregulated ncam1a compensates for the loss of ncam1b, facilitating normal lateral line development. These findings emphasize the essential role of Ncam1 in zebrafish lateral line development and suggest that the retention of both paralogs, ncam1a and ncam1b, acts as a protective mechanism to ensure the preservation of critical Ncam1 functions after gene duplication. - Source: PubMed
Publication date: 2025/06/19
Lange AnnemarieBastmeyer MartinBentrop Joachim - Hippo-Yap/Taz pathway is essential for tissue regeneration in multiple species. However, we found that in the highly regenerative salamanders, Yap knockout does not compromise the limb regeneration due to genetic compensation response (GCR). Specifically, the mutated Yap locus derived non-sense mRNA, which was recognized by UPF3A to instruct compensatory Taz induction. Blocking Yap mRNA or protein indeed inhibits regeneration. GCR could be utilized to maintain the robustness of limb regeneration. - Source: PubMed
Publication date: 2025/05/31
Yin BinxuYu ChanghaoLiu YangCai HaoWu WenchengYe TingtingWang LeiXiao LujiaZhu YiGuo HuaijuanZhang KunWang Heng - Nonsense-mediated mRNA decay (NMD) plays a crucial role in degrading aberrant transcripts with premature termination codons, with the Up-frameshift (UPF) protein family-UPF1, UPF2, and UPF3A/UPF3B-being vital components of this machinery. While several variants in genes encoding UPF2 and UPF3A/3B have been associated with neurodevelopmental disorders, only three germline UPF1 variants have been reported to date. Here, we report a male patient with a de novo missense variant, p.(Ala526Thr), in a highly conserved helicase motif of UPF1. The patient presented with moderate intellectual disability (ID), atypical autism, attention deficit hyperactivity disorder (ADHD), and behavioral disturbances. The common features observed among the four patients with UPF1 variants are moderate to severe ID and developmental delays in motor and verbal skills. A comparison across the disorders related to the UPF genes suggests that neurodevelopmental delay, including ID and impaired verbal skills, is a common feature, and these disorders may collectively be referred to as UPF-related neurodevelopmental disorders (NDDs). ADHD, autism, seizures, hypotonia, and non-specific dysmorphic features are also reported in some patients, suggesting that these disorders can be classified as non-specific intellectual disability syndromes. However, further studies are necessary to elucidate genotype-phenotype correlations and the molecular mechanisms underlying these rare disorders, particularly those related to UPF1. - Source: PubMed
Publication date: 2025/02/24
Tümer ZeynepDalsberg JonasRønde GitteSørensen Jesper KiehnØstergaard Elsebet