RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.600 Biomarker disease BEFREE RAC1 and melanoma. 25465943 2015
CUI: C0025202
Disease: melanoma
melanoma
0.600 GeneticVariation disease BEFREE Our results suggest RAC1 P29S status may offer a predictive biomarker for RAF inhibitor resistance in melanoma patients, where it should be evaluated clinically. 25056119 2014
CUI: C0025202
Disease: melanoma
melanoma
0.600 AlteredExpression disease BEFREE Notably, Rac1 expression, and its interaction with Bcl-2, positively correlate with S70pBcl-2 levels in patient-derived lymphoma tissues and with advanced stage lymphoma and melanoma. 31103719 2019
CUI: C0025202
Disease: melanoma
melanoma
0.600 Biomarker disease BEFREE This study identifies an ERK-dependent mechanism that drives PREX1 upregulation and subsequent RAC1-dependent invasion in BRAF- and NRAS-mutant melanoma. 27418645 2016
CUI: C0025202
Disease: melanoma
melanoma
0.600 GeneticVariation disease BEFREE We also found and that RAC1-mutant human melanoma cells are resistant to clinical inhibitors of BRAF but are uniquely sensitive to PAK inhibitors. 29059171 2018
CUI: C0025202
Disease: melanoma
melanoma
0.600 Biomarker disease BEFREE The example of Sox10 and Rac1 genes provides detailed illustration of how interfering with these important genes for neural crest development can prevent melanoma formation. 24441506 2014
CUI: C0025202
Disease: melanoma
melanoma
0.600 Biomarker disease BEFREE The identification of SDF-1alpha as a potential stimulatory molecule for MT1-MMP as well as for RhoA and Rac1 activities during melanoma cell invasion, associated with an up-regulation in CXCR4 expression by interaction with basement membrane factors, could contribute to better knowledge of mechanisms stimulating melanoma cell dissemination. 15059909 2004
CUI: C0025202
Disease: melanoma
melanoma
0.600 GeneticVariation disease BEFREE A point mutation (P29S) in the RAS-related C3 botulinum toxin substrate 1 (RAC1) was considered to be a trigger for melanoma, a form of skin cancer with highest mortality rate. 27699663 2016
CUI: C0025202
Disease: melanoma
melanoma
0.600 GeneticVariation disease BEFREE RAC1 mutations are infrequent in primary melanomas but may accelerate disease progression. 25043693 2014
CUI: C0025202
Disease: melanoma
melanoma
0.600 GeneticVariation disease BEFREE Notably, we identified a recurrent UV-signature, an activating mutation in RAC1 in 9.2% of sun-exposed melanomas. 22842228 2012
CUI: C0025202
Disease: melanoma
melanoma
0.600 Biomarker disease BEFREE These data suggest a critical link between cell morphology and cell signaling and reconcile the dichotomy of Rac1's regulation of both proliferation and actin assembly by revealing a mutual signaling axis wherein actin assembly drives proliferation in melanoma. 31063759 2019
CUI: C0025202
Disease: melanoma
melanoma
0.600 GeneticVariation disease BEFREE Recently, a self-activating mutation of Rac1, Rac1<sup>P29S</sup>, has been identified as a recurrent somatic mutation frequently found in sun-exposed melanomas, which possesses increased inherent GDP/GTP exchange activity and cell transforming ability. 29432733 2018
CUI: C0025202
Disease: melanoma
melanoma
0.600 AlteredExpression disease BEFREE In contrast to the proliferation-related activity, CYLD knockdown significantly decreased the cell migration of all the melanoma cell lines (n=7, p<0.05), and we demonstrated that the mechanism regulating melanoma cell migration was activation of RAC1 through the action of CYLD. 22469839 2012
CUI: C0025202
Disease: melanoma
melanoma
0.600 Biomarker disease BEFREE In the present study, we investigated the molecular mechanisms underlying apoptosis regulation by Rac1 through functional proteomic analysis of three human melanoma M14 cell lines stably transfected with constitutively active Rac1V12, dominant negative Rac1N17, and empty vector (pIRES), respectively. 17952876 2007
CUI: C0025202
Disease: melanoma
melanoma
0.600 Biomarker disease BEFREE Induction of MDA-9/syntenin in melanoma was found to occur in a thrombin-independent signaling pathway and involves the PAR-1/c-Src/Rho GTPases Rac1 and Cdc42/c-Jun N-terminal kinase axis resulting in the activation of paxillin, NF-κB, and matrix metalloproteinase-2 (MMP-2). 25505176 2015
CUI: C0025202
Disease: melanoma
melanoma
0.600 GeneticVariation disease BEFREE RAC1 P29 is the third most commonly mutated codon in human cutaneous melanoma, after BRAF V600 and NRAS Q61. 31257073 2019
CUI: C0025202
Disease: melanoma
melanoma
0.600 GeneticVariation disease BEFREE The melanoma RAC1(P29S) gain-of-function point mutation therefore represents a previously undescribed class of cancer-related GTPase activity. 23284172 2013
CUI: C0025202
Disease: melanoma
melanoma
0.600 GeneticVariation disease BEFREE RAC1 P29S regulates PD-L1 expression in melanoma. 26176707 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE The primary objective of the current study was to determine the role of Rac1 in CD36 activation and its impact on β-cell dysfunction in diabetes mellitus. 27912197 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE Paradoxically, emerging evidence in multiple cell types, including the islet β-cell, suggests key roles for Rac1 in the onset of cellular dysfunction under conditions of metabolic stress and diabetes. 28202288 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE Our aim was to investigate the role of epigenetics in Rac1 regulation in diabetes. 30347077 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE Our data suggest that the pharmacological inhibition of Rac1 could represent a novel therapeutic strategy to reduce endothelial dysfunction and platelet hyperaggregation in diabetes mellitus. 29626150 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE In this Commentary, we overviewed the emerging evidence implicating potential cross-talk between Rac1 and ceramide signaling pathways in the onset of metabolic dysregulation of the islet β-cell culminating in impaired physiological insulin secretion, loss of β-cell mass and the onset of diabetes. 29715450 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 GeneticVariation group BEFREE Loss-of-function mutations in RAC1 and other genes of the Rac signaling pathway have been implicated in the pathogenesis of Intellectual Disability (ID). 29740022 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker group BEFREE Such insights may have implications for the utility of Rac1 inhibitors in the treatment of intellectual disability caused by <i>Cc2d1a</i> mutations in human patients. 30992372 2019