UPF1, UPF1 RNA helicase and ATPase, 5976

N. diseases: 38; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation group BEFREE In silico screening of UPF1 stability change as a function over 41 cancer mutations has identified five variants with significant effects: K164R, R253W, T499M, E637K, and E833K. 31718065 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation group BEFREE In silico screening of UPF1 stability change as a function over 41 cancer mutations has identified five variants with significant effects: K164R, R253W, T499M, E637K, and E833K. 31718065 2019
CUI: C0039730
Disease: Thalassemia
Thalassemia
0.010 GeneticVariation group BEFREE We developed a human cellular model of the β<sup>0</sup>39 thalassemia mutation with UPF-1 suppressed and showing a partial NMD suppression. 29764417 2018
CUI: C1335299
Disease: Pancreatic Adenosquamous Carcinoma
Pancreatic Adenosquamous Carcinoma
0.010 GeneticVariation disease BEFREE UPF1 mutations are, to our knowledge, the first known unique molecular signatures of pancreatic ASC. 24859531 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE Upregulation of SNHG6 expression induced RKO and HCT116 cell proliferation as well as RKO cell metastasis, while downregulation of SNHG6 expression supressed the proliferation and metastasis of RKO cells and tumor growth <i>in vivo.</i> UPF1 was upregulated and ZEB1 was decreased when SNHG6 knockdown, regulating the TGF-β/Smad pathway and inducing EMT respectively. 30662328 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE Our findings revealed that UPF1 is a potential tumor suppressive gene and may be a potential therapeutic target for HCC. 26759305 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE Additionally, the predominant nuclear localization of UPF1 in normal glandular cells and low grade tumors was switched to a more cytoplasmic pattern in carcinomas with Gleason score >7. 23881279 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE In the present study, the role of Up‑frameshift 1 (UPF1), a potential tumor suppressor, was investigated in the HCC cell lines. 30628676 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE Collectively, UPF1 functions as a tumor suppressor by preventing cancer stem cell (CSC)-like characteristics, inhibiting EMT process and enhancing chemotherapeutic sensitivity via inhibiting ABCC2 expression in HCC cells. 28554132 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE These findings establish UPF1 as a potential therapeutic target for HCC patients. 28554132 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE Functionally, UPF1 regulated HCC tumorigenesis both in vitro and in vivo. 26759305 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE Upregulation of SNHG6 regulates ZEB1 expression by competitively binding miR-101-3p and interacting with UPF1 in hepatocellular carcinoma. 27702662 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE Knockdown of UCA1 ameliorated the effect of UPF1 knock down on HCC growth and invasion. 31040354 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE Taken together, these findings showed that SNAI3-AS1 promotes the progression of HCC by regulating the UPF1 and activating TGF-β/Smad pathway. 31264769 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 Biomarker group BEFREE Our results reveal that Linc-ASEN prevents cellular senescence by reducing the transcription and stability of p21 mRNA in concert with UPF1, and suggest that Linc-ASEN might be a potential therapeutic target in processes influenced by senescence, including cancer. 31819156 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 Biomarker group BEFREE Collectively, UPF1 functions as a tumor suppressor by preventing cancer stem cell (CSC)-like characteristics, inhibiting EMT process and enhancing chemotherapeutic sensitivity via inhibiting ABCC2 expression in HCC cells. 28554132 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE Our results reveal that Linc-ASEN prevents cellular senescence by reducing the transcription and stability of p21 mRNA in concert with UPF1, and suggest that Linc-ASEN might be a potential therapeutic target in processes influenced by senescence, including cancer. 31819156 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE Collectively, UPF1 functions as a tumor suppressor by preventing cancer stem cell (CSC)-like characteristics, inhibiting EMT process and enhancing chemotherapeutic sensitivity via inhibiting ABCC2 expression in HCC cells. 28554132 2017
CUI: C0017638
Disease: Glioma
Glioma
0.030 Biomarker disease BEFREE The study is the first to prove that the UPF1-Linc-00313-miR-342-3p/miR-485-5p-Zic4-SHCBP1 pathway forms a positive-feedback loop and regulates the biological behaviors of U87 and U251 cells, which might provide a new therapeutic target for glioma. 31427569 2019
CUI: C0017638
Disease: Glioma
Glioma
0.030 Biomarker disease BEFREE Finally, rescue experiments were conducted to ascertain the involvement of CYTOR in UPF1-regulated progression of glioma. 31799670 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.030 Biomarker phenotype BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE MTT, cell cycle, apoptosis and transwell assays were performed to examine the effects of UPF1 on cell cycle progression, cell proliferation, apoptosis, migration and invasion. 28942451 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE Knockdown of UCA1 ameliorated the effect of UPF1 knock down on HCC growth and invasion. 31040354 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 Biomarker disease BEFREE This work helps validate UPF1 as a novel therapeutic for ALS and other TDP-43-related diseases and may implicate UPF1 and NMD involvement in the underlying disease mechanisms. 25354681 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 Biomarker disease BEFREE These data highlight a new, neuronal role for UPF1, distinct from its RNA decay functions, in regulating transport and/or translation of mRNAs that are critical for synaptic plasticity.<b>SIGNIFICANCE STATEMENT</b> The elongation and/or termination steps of mRNA translation are emerging as important control points in mGluR-LTD, a form of synaptic plasticity that is compromised in a severe monogenic form of autism, Fragile X Syndrome. 28821679 2017