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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 AlteredExpression disease BEFREE Ubiquitin-ribosomal protein S27a gene overexpressed in human colorectal carcinoma is an early growth response gene. 8385574 1993
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.020 AlteredExpression disease BEFREE The mRNA of several ribosomal proteins, and of another ubiquitin A gene fusion protein, UbA80, with an 80 amino acid extension of ribosomal protein S27a, have been reported to be over-expressed in colon cancer, but not as yet at the protein level. 8541345 1995
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 AlteredExpression group BEFREE Using rabbit antisera to the ribosomal protein component S27a we demonstrate over-expression of S27a at the protein level in colonic (n = 5), but not gastric (n = 6) carcinomas. 8541345 1995
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 AlteredExpression disease BEFREE The mRNA of several ribosomal proteins, and of another ubiquitin A gene fusion protein, UbA80, with an 80 amino acid extension of ribosomal protein S27a, have been reported to be over-expressed in colon cancer, but not as yet at the protein level. 8541345 1995
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 Biomarker group BEFREE A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: implications for X-linked retinal disorders. 8845848 1996
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: 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: C0006625
Disease: Cachexia
Cachexia
0.010 AlteredExpression phenotype BEFREE Gene expression of ubiquitin C and proteasome subunits C2, C3, and C9 was not changed in the uremic animals, suggesting that other pathways are involved in this model of nonacidotic uremic cachexia. 15931394 2005
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.010 AlteredExpression group LHGDN A novel component of the ubiquitin pathway, ubiquitin carboxyl extension protein 1 is overexpressed in prostate cancer. 15647830 2005
CUI: C0036631
Disease: Seminoma
Seminoma
0.010 AlteredExpression disease BEFREE Ubiquitin C (protein degradation) was down-regulated, GAPDH (carbohydrate metabolism), beta-actin (cytoskeleton), 18S rRNA (ribosome) and PBGD (porphyrin metabolism) were up-regulated in seminoma. 15823405 2005
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.010 AlteredExpression disease BEFREE Reduced ubiquitin C-terminal hydrolase-1 expression levels in dementia with Lewy bodies. 16380264 2006
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: C0036161
Disease: Sandhoff Disease
Sandhoff Disease
0.010 AlteredExpression disease BEFREE These studies, confirmed by biochemical experiments, demonstrated that lysosomal storage is associated with downregulation of ubiquitin C-terminal hydrolase, UCH-L1 in the cells of eight different lysosomal disorders, as well as in the brain of a mouse model of Sandhoff disease. 16888648 2007
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 AlteredExpression group BEFREE We tested five reference genes for stability on our sample set and using the three most stable ones (YWHAZ, ubiquitin c, and HPRT) obtained rather small intra-group variance for cyclin D1 expression in most lymphomas. 20727381 2010
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: 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: 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: 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: C0086942
Disease: Rous Sarcoma
Rous Sarcoma
0.010 AlteredExpression disease BEFREE The commonly used cytomegalovirus major immediate early (CMV) promoter led to high-level swelling that was independent of transgene expression, while the Rous sarcoma virus and human ubiquitin C promoters led to intermediate levels of swelling and the Ad E1A promoter or no promoter led to equally low levels of swelling. 21255815 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 Biomarker group 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 Genetic studies have implicated the neuronal ubiquitin C-terminal hydrolase (UCH) protein UCH-L1 in Parkinson's disease (PD) pathogenesis. 22076440 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 AlteredExpression disease BEFREE Messenger RNA for ER (ESR1) and Ubiquitin C (UbC) were visualized using RNAscope probes and levels were quantified by quantitative in situ hybridization (qISH) on two Yale breast cancer cohorts on tissue microarrays. 22606272 2012
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 AlteredExpression disease BEFREE Messenger RNA for ER (ESR1) and Ubiquitin C (UbC) were visualized using RNAscope probes and levels were quantified by quantitative in situ hybridization (qISH) on two Yale breast cancer cohorts on tissue microarrays. 22606272 2012