Ask about this productRelated genes to: UEVLD antibody
- Gene:
- UEVLD NIH gene
- Name:
- UEV and lactate/malate dehyrogenase domains
- Previous symbol:
- -
- Synonyms:
- Attp, UEV3
- Chromosome:
- 11p15.1
- Locus Type:
- gene with protein product
- Date approved:
- 2006-07-14
- Date modifiied:
- 2014-11-19
Related products to: UEVLD antibody
Related articles to: UEVLD antibody
- Malformations of cortical development (MCD) caused by variants in mTOR pathway genes (MPGs) are a leading cause of drug-resistant epilepsy. Characteristic histopathological features of MPG-associated MCD include cytomegaly and cortical dyslamination often with neurons in abnormally close apposition (aggregates). We hypothesized that cellular aggregation is an mTOR-dependent phenotype. , or were knocked out (KO) using CRISPR/Cas9 in N2a cells . Levels of phosphorylated ribosomal S6 protein (PS6; Ser240/244), a marker for mTOR activation, were defined via Western blotting . Timelapse live-cell imaging was used to observe aggregate formation, with or without mTORC1 inhibition (rapamycin). EdU-base cell proliferation assay and cell death assays were performed to determine whether aggregation was the result of changes in cell cycle or increased cell death. Liquid chromatography-mass spectrometry (LC-MS/MS) was used to define changes in the cell aggregate proteome. Human MCD brain tissue specimens were stained with PS6 to assay mTOR signaling in neuronal clusters. All knockout lines formed multi-cell aggregates compared to control lines within 24-48 hours of plating . Aggregation was abolished with mTOR inhibitor treatment, establishing the mTOR-dependency of aggregate formation. Aggregation was not driven by cell proliferation, apoptosis/necrosis, or the presence of extracellular DNA in culture media. LC-MS/MS analysis revealed altered expression of protein across KO lines including adhesion molecules (e.g., contactin-3), cytoskeletal proteins (e.g., stathmin-2), and protein processing/transport (e.g., Uevld). Our findings establish aberrant cellular aggregation as an mTOR-dependent phenotype across multiple MPG associated with MCD. Changes in expression of adhesion molecules may contribute to abnormal cell aggregation and cortical lamination in MCD and results in abnormal network formation that leads to seizures. - Source: PubMed
Publication date: 2025/11/04
Roark Kelley MCrino Peter BIffland Philip H - UEV domains are catalytically dead variants of the E2 enzymes which play an intermediate role in ubiquitin signaling. UEV domain containing proteins, like the ESCRT-I factor Tsg101 often play critical roles in trafficking of ubiquitylated cargos or in modulating ubiquitin processivity, or in determining the type of signal that is transferred to a target protein. Ubiquitin-conjugating enzyme E2 variant (UEV) and lactate/malate dehydrogenase (UEVLD), also known as UEV3, is a human paralogue of Tsg101 with apparent associations to cancer, innate immunity, NF-κB signaling, and autophagy. It contains an N-terminal UEV domain with 56% identity to that of Tsg101 and a C-terminal lactate dehydrogenase domain. Here, we show the backbone assignments of the UEV domain from UEVLD and find that its Cα shifts are consistent with a UEV domain composition. Further experiments suggest that it may have regions corresponding to the known binding pockets of Tsg101, but further structural and functional work will be required to uncover critical determinants of UEV domain function, and the role of these domains in Ubiquitin signaling as a whole. - Source: PubMed
Publication date: 2025/06/26
Vazquez Jose GNyenhuis David AStrub Marie-PauleTjandra Nico - The host genetic factors conferring protection against HIV type 1 (HIV-1) acquisition remain elusive, and in particular the contributions of common genetic variants. Here, we performed the largest genome-wide association meta-analysis of HIV-1 acquisition, which included 7,303 HIV-1-positive individuals and 587,343 population controls. We identified 25 independent genetic loci with suggestive association, of which one was genome-wide significant within the major histocompatibility complex (MHC) locus. After exclusion of the MHC signal, linkage disequilibrium score regression analyses revealed a SNP heritability of 21% and genetic correlations with behavioral factors. A transcriptome-wide association study identified 15 susceptibility genes, including , , and . Convergent evidence from conditional analyses and fine-mapping identified downregulation in immune cells as a robust mechanism associated with HIV-1 acquisition. Functional studies on and other identified candidates, as well as larger genetic studies, have the potential to further our understanding of the host mechanisms associated with protection against HIV-1. - Source: PubMed
Publication date: 2022/08/04
Duarte Rodrigo R RPain OliverFurler Robert LNixon Douglas FPowell Timothy R - The etiology and pathogenesis of preeclampsia (PE) remain unclear, and ideal biomarkers for the early detection of PE are scarce. The involvement of the competing endogenous RNA (ceRNA) hypothesis in PE is only partially understood. The present study aimed to delineate a regulatory network in PE comprised of messenger RNAs (mRNAs), circular RNAs (circRNAs), long non-coding RNAs (lncRNAs), and microRNAs (miRNAs) via ceRNA profiles from human umbilical vein endothelial cells (HUVECs) to further reveal the pathogenesis of PE and potential biomarkers. - Source: PubMed
Publication date: 2021/04/20
Chen DanHe BiweiZheng PanchanWang ShuyingZhao XueyaLiu JinyuYang XingyuCheng Weiwei - 138 papillary thyroid carcinoma (PTC) samples were assessed for somatic mutation profile and fusion genes by targeted resequencing using a cancer panel (ThyGenCapTM) targeting 244 cancer-related genes and 20 potential fusion genes. At least one genetic alteration (including mutations and fusion genes) was observed in 118/138 (85.5%) samples. The most frequently mutated gene was BRAF V600E (57.2%). Moreover, we identified 11 fusion genes including eight previously reported ones and three novel fusion genes, UEVLD-RET, OSBPL9-BRAF, and SQSTM1-NTRK3. Alterations affecting the mitogen-activated protein kinase (MAPK) signaling pathway components were seen in 69.6% of the PTC cases and all of these driver mutations were mutually exclusive. Univariate analysis ascertained that the fusion genes were strongly associated with distinct clinicopathological characteristics, such as young age, local invasion, extensive metastasis, and disease stage. In conclusion, our approach facilitated simultaneous high-throughput detection of gene fusions and somatic mutations in PTC samples. - Source: PubMed
Lu ZhemingZhang YujieFeng DongdongSheng JindongYang WenjunLiu Baoguo