RPS27A, ribosomal protein S27a, 6233

N. diseases: 59; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 GeneticVariation disease BEFREE Genetic studies have identified mutations in alpha-synuclein and ubiquitin C-terminal hydrolase as rare causes of autosomal dominant PD and mutations in parkin as a cause of autosomal recessive PD. 12067634 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 GeneticVariation group BEFREE Transgenic (TG) mice expressing human chorionic gonadotropin (hCG) beta-subunit under the ubiquitin C promoter, presenting with a moderately elevated level of LH/hCG bioactivity develop multiple neoplasms secondary to the endocrine abnormalities, including mammary gland tumors after the age of 9 months. 17510243 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 GeneticVariation phenotype BEFREE HCC cell migration and invasion together with the interaction between PRDX1 and ubiquitin C-terminal hydrolase 37 (UCH37) were studied in vitro. 29377617 2018
CUI: C0005694
Disease: Bladder neck obstruction
Bladder neck obstruction
0.010 GeneticVariation disease BEFREE Transgenic (Tg) male mice overexpressing aromatase (Cyp19a1) under the ubiquitin C promoter in the estrogen-susceptible C57Bl/6J genetic background (AROM+/6J) developed inguinal hernia by 2 months and severe BOO by 9 to 10 months, with 100% penetrance. 21356374 2011
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa
0.010 GeneticVariation disease BEFREE Type XVI collagen (COL16A1), G0/G1 switch 2 (G0S2), fibronectin (FN1), ribosomal protein S27A (RPS27A) and low density lipoprotein receptor (LDLR) were shown to exhibit corresponding changes in gene expression in all three EB subtypes. 22716248 2012
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
0.010 GeneticVariation phenotype BEFREE Transgenic (Tg) male mice overexpressing aromatase (Cyp19a1) under the ubiquitin C promoter in the estrogen-susceptible C57Bl/6J genetic background (AROM+/6J) developed inguinal hernia by 2 months and severe BOO by 9 to 10 months, with 100% penetrance. 21356374 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.010 GeneticVariation disease BEFREE In addition, ubiquitin C (UBC) and six additional TSGs including the adenomatous polyposis coli gene (APC), death associated protein kinase gene (DAPK), pleiomorphic adenoma gene-like 1 (PLAGL1), retinoblastoma susceptibility gene (RB1), a gene encoding an apoptosis-associated speck-like protein (PYCARD/ASC) and tumor protein 63 (TP63), which had close interactions with the 15 TSGs, are potential drug resistance-related genes in ovarian cancer. 23660957 2013
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.300 Biomarker disease GENOMICS_ENGLAND Overexpression of RPS27a contributes to enhanced chemoresistance of CML cells to imatinib by the transactivated STAT3. 26942564 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 Biomarker disease BEFREE The neuronal ubiquitin C-terminal hydrolase (UCH) UCH-L1 has been linked to Parkinson's disease (PD) and other neurodegenerative diseases. 21251915 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 Biomarker disease BEFREE Drosophila Ubiquitin C-Terminal Hydrolase Knockdown Model of Parkinson's Disease. 29535397 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 Biomarker disease BEFREE Ubiquitin C-terminal Hydrolase-1 (UCHL1) is a deubiquitinating enzyme, which plays a key role in Parkinson's disease (PD). 28300150 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.050 Biomarker disease BEFREE Genetic studies have implicated the neuronal ubiquitin C-terminal hydrolase (UCH) protein UCH-L1 in Parkinson's disease (PD) pathogenesis. 22076440 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Here we describe the small molecule b-AP15 as a previously unidentified class of proteasome inhibitor that abrogates the deubiquitinating activity of the 19S regulatory particle. b-AP15 inhibited the activity of two 19S regulatory-particle-associated deubiquitinases, ubiquitin C-terminal hydrolase 5 (UCHL5) and ubiquitin-specific peptidase 14 (USP14), resulting in accumulation of polyubiquitin. b-AP15 induced tumor cell apoptosis that was insensitive to TP53 status and overexpression of the apoptosis inhibitor BCL2. 22057347 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE The network analysis revealed that the candidate genes identified in AR chickens play roles in networks centered to ubiquitin C (<i>UBC</i>), phosphoinositide 3-kinases (<i>PI3K</i>), and nuclear factor kappa B (<i>NF-kB</i>) complexes suggesting that the tumor regression property in AR chickens might be associated with ubiquitylation, <i>PI3K</i>, and <i>NF-kB</i> signaling pathways. 30347774 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE Ubiquitin C-terminal hydrolase deubiquitinase BAP1 is an essential tumor suppressor involved in cell growth control, DNA damage response, and transcriptional regulation. 30639226 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.020 Biomarker disease BEFREE Three hundred and forty-seven genes associated with autophagy in human pancreatic cancer were concentrated, and a key gene ubiquitin C which is closely related to the occurrence of PNI was determined, suggesting that LC3 may influence the PNI and prognosis of pancreatic cancer through ubiquitin C. 31114135 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.020 Biomarker disease BEFREE In addition to these two genes, Ubiquitin C (UBC) in head and neck cancer and Transferrin receptor (TFRC) and β-Glucuronidase (GUSB) in pancreatic cancer were identified to be stable as well. 28262749 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.020 Biomarker disease BEFREE Three hundred and forty-seven genes associated with autophagy in human pancreatic cancer were concentrated, and a key gene ubiquitin C which is closely related to the occurrence of PNI was determined, suggesting that LC3 may influence the PNI and prognosis of pancreatic cancer through ubiquitin C. 31114135 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.020 Biomarker disease BEFREE In addition to these two genes, Ubiquitin C (UBC) in head and neck cancer and Transferrin receptor (TFRC) and β-Glucuronidase (GUSB) in pancreatic cancer were identified to be stable as well. 28262749 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 Biomarker disease BEFREE The ubiquitin-specific proteases (USPs), a family member of DUBs mostly involved in the regulation of cellular pathways for PCa development, and the ubiquitin C-terminal hydrolases (UCHs), another family member of DUBs, are responsible for PCa metastasis. 31062387 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 Biomarker disease BEFREE UBCEP-1 mediated ubiquitin chain elongation may promote prostate carcinoma development by increasing via the proteasome pathway the degradation of proteins which are involved in growth inhibition or apoptosis. 15647830 2005
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.020 Biomarker disease BEFREE Our previous studies demonstrated selected higher expression of a gene encoding ubiquitin-ribosomal protein S27a in poorly differentiated colon carcinoma cell lines. 2009061 1991
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE RPS27a also enhances LMP1-mediated proliferation and invasion, suggesting that RPS27a interacts with LMP1 and stabilizes it by suppressing proteasome-mediated ubiquitination. 28735865 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE Network analysis reveals new potential roles of ubiquitin C in the pathogenesis of HCC. 25247452 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE This study opens up a new window for YB-1-RPS27A axis in HCC. 24833360 2014