Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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phospholipase C epsilon 1(PLCE1) phospholipase C epsilon 1(PLCE1) Related Genes Homo sapiens
CHROMOSOME 10,
CYTOBAND 10q23,
ENSEMBL_GENE_ID ENSG00000138193,
GENERIF_SUMMARY Stimulation of phospholipase C-epsilon by the M3 muscarinic acetylcholine receptor mediated by cyclic AMP and the GTPase Rap2B, phospholipase C signal is suggested to be critical for survival and growth of cells, Gi-coupled receptors can inhibit PLC-epsilon., diversity introduced by splice variants could play an important role in PLCepsilon regulation, R-Ras regulates organization of actin and drives membrane protrusions through the activitiy of PLCE., CD44 interaction with LARG and EGFR plays a pivotal role in Rho/Ras co-activation, PLC epsilon-Ca2+ signaling, and Raf/ERK up-regulation required for CaMKII-mediated cytoskeleton function and in head and neck squamous cell carcinoma progression, Mutations cause early onset nephrotic syndrome. May play a critical role in glomerular development. Review., BRAF interacts with PLCepsilon1 in nephrotic syndrome type 3. Both proteins are coexpressed and colocalize in developing and mature glomerular podocytes., mutations in PLCE1 may serve as a biomarker for selecting patients with IDMS who may benefit from treatment., Discuss the recent identification of autosomal recessive nephrotic syndrome type 3 (NPHS3) caused by mutations in the phospholipase PLCE1 gene has, for the first time, shown steroid responsiveness in childhood nephrotic syndrome. (Editorial), PLCE1/NPHS3 mutations are not a cause of focal and segmental glomerulosclerosis in this cohort study, nonpenetrance may be due to compensatory mutations at a second locus and mutation within PLCE1 is not always sufficient to cause diffuse mesangial sclerosis., This study demonstrated that PLCE1 might be a new tumor suppressor gene related to sporadic colorectal cancer., Homozygous or compound heterozygous mutations were identified in 33% (8/24) of diffuse mesangial sclerosis (DMS) cases. PLCE1 mutations were found in 8% (6/78) of FSGS cases without NPHS2 mutations., Silencing of PLCE1 might downregulate the level of MMP and BCL2 gene expression, decreasing the invasive power of bladder cancer T24 cells and thus inhibiting tumor development., Shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma., Suscptibility loci at PLCE1 for esophageal squamous cell carcinoma., Case Report, Loss of PLCE1 is associated with colorectal cancer., None of 3 SNPs was alone significantly associated with overall risk of SCCHN, the combined effects of rs2274223G, rs3203713G & rs11599672G were associated with risk of SCCHN in a locus-dose effect manner., The knockdown of PLCepsilon by shRNA could inhibit bladder tumor growth and might be an alternative approach for human bladder cancer therapy, The PLCE1 single nucleotide polymorphism rs2274223 was associated with significantly improved gastric cancer survival in a Chinese population., Significantly deregulated pathways in colorectal cancer were identified and repression of PLCD1 and PLCE1 expression, was validated., These results suggest that PLCe constitutes a signaling pathway distinct from the NF-jB pathway and that this pathway and the NF-jB pathway exert a synergistic effect on the TNFa-stimulated CCL2 expression in keratinocytes., identify two loci associated with susceptibility to DSS in people with dengue, suggesting possible mechanisms for this severe complication of dengue, Single Nucleotide Polymorphisms in PLCE1 resulting in reduce gene expression are associated with esophageal squamous cell carcinoma., genetic variations in PLCE1 may contribute to gastric adenocarcinoma risk in an eastern Chinese population., These findings indicated that functional polymorphisms PLCE1 rs2274223 might contribute to esophageal cancer susceptibility., rs2274223 polymorphisms in PLCE1 is associated with esophageal squamous cell carcinoma., PLCE1 gene variants are associated with esophageal squamous cell carcinoma., the PLCepsilon1 rs2274223 SNP might be an effective genetic marker to assess the risk of esophageal squamous cell carcinoma in individuals with a upper gastrointestinal cancer family history from a region of high incidence in northern China, It is unlikely that the PLCE1 rs2274223 and RFT2 13042395 SNPs play a role in esophageal adenocarcinoma or esophageal squamous cell carcinoma susceptibility in Dutch Caucasians., A sequence variant in the phospholipase C epsilon C2 domain is associated with esophageal carcinoma and esophagitis., the MICB rs3132468 and PLCE1 rs3740360 genotypes are associated with clinically apparent dengue in both adults and children., PLCE1 overexpression correlates with lymph node metastasis and advanced tumor-node-metastasis stages of Kazakh esophageal squamous cell carcinoma., Results further confirmed that genetic variations in PLCE1 may contribute to ESCC risk associated with tobacco exposure in a central Chinese population., Studies suggest phospholipase C epsilon 1 gene (PLCE1) polymorphism conferred significant risk among Asian (Chinese) but not in Caucasian., the PLCE1 rs2274223 polymorphism was confirmed to have a statistically significant association with an increasing risk of squamous cell carcinoma and gastric cancer., Meta-analysis results indicated that PLCE1 rs2274223 G allele significantly contributed to the risk of ESCC and GCA, especially in Chinese population., PLCvarepsilon and the RASSF family play roles in tumour suppression. [review], PLCE1 rs2274223 and rs7922612 polymorphisms are associated with gallbladder cancer susceptibility., Only 4 PLCE1 SNPs with moderate linkage disequilibrium confer significantly increased risk of esophageal cancer to a Chinese Kazakh population., Data indicate that PLCE1 rs2274223 A>G polymorphism was significantly associated with increased risk of digestive tract cancer (DTC), especially among Asian populations., heterozygote of PLCE1 rs2274223 increases susceptibility to human papillomavirus infection in patients with esophageal carcinoma among the Kazakh populations., We found PLCE1, C11orf92-C11orf93, and NOC3L associated with colorectal cancer susceptibility, The rs2274223 polymorphism in phospholipase C epsilon 1 was associated with an increased risk of esophageal squamous cell carcinoma in this Korean population, aim of this study was to determine whether rs4072037A > G in MUC1 at 1q22 and rs2274223A > G in PLCE1 at 10q23 are associated with a risk of gastric cancer in a Korean population, upregulation of PLCE1 is correlated with increased expression of NF-kappaB-related proteins in Kazakh patients with esophageal squamous cell carcinoma, PKCalpha/beta is critical for PLCepsilon-mediated cancer cell invasion and migration, NSCLC cells express high levels of PLCE1, which suppresses the expression of p53 in NSCLC cells., the PLCE1 rs2274223 A > G change might reduce gene expression and the variant genotype might contribute to the increased risk of colorectal cancer., Knockdown of PLCepsilon gene potently suppressed the nuclear factor kappa (NF-kappaB) signaling pathway., A tumor suppressor role for phospholipase C epsilon in Ras-triggered cancers., Meta-analysis suggested the PLCE1 rs2274223 might act as a cancer risk factor among all subjects, especially in the Chinese population and upper aerodigestive tract cancer., This meta-analysis provides strong statistical evidence for an elevated risk of EC associated with PLCE1 rs2274223, Knockdown of PLCE1 markedly increased 9.26 folds of the expression of p53 and 13.8 folds of the frequency of apoptotic CP-C cells via modulating the p53 promoter methylation, PLCepsilon1 shRNA depressed the in vitro and in vivo growth of gastric cancer cells by using MTT assay and tumor xenograft experiment., Data show that phospholipase C epsilon 1 (PLCE1) and liver X receptor-beta (LXR-beta) network interactions as important contributory factors for genetic predisposition in gallbladder cancer., Dysregulated PLCE1 mRNA expression was observed for both esophageal squamous cell carcinoma and gastric cancer, PLCE1 rs2274223 polymorphism may be used as a potential biomarker for digestive tract cancer susceptibility particularly for esophageal squamous cell carcinoma and gastric cardia adenocarcinomas in the Chinese population., we conclude that rs3132468-C at MICB and rs3765524-C at PLCE1 confer risk of DSS in Southeast Asians., Genetic variations in PLCE1 modulate risk of esophageal cancer in the high risk Kashmiri population., findings demonstrate that the presence of the G allele at rs2274223 of the PLCE1 gene may contribute to susceptibility to GC, especially cardia GC., PLCE1 gene silencing by RNAi resulted in decreased expression of cyclin D1., PLCE1 rs7922612CT + TT is associated with susceptibility of esophageal cancer., PLCE1 rs2274223 polymorphism is associated with esophageal cancer., variation in PLCE1 may be associated with GC risk in Kashmir Valley., The meta-analysis suggested that upregulated PLCE1 is significantly associated with an increased risk of tumor progression in esophageal squamous cell carcinoma and gastric cardia adenocarcinomas., a new pathway for TRPC6 activation by Phospholipase C epsilon, This meta-analysis demonstrated that PLCE1 rs2274223 A > G polymorphism may be associated with increased susceptibility to cancer, especially for ESCC., a significantly increased stomach cancer risk was associated with PLCE1 SNP rs2274223 in a Han Chinese population., PLCE1 gene rs2274223 polymorphism is associated with esophageal cancer, Our results suggested that STAT3 phosphorylation is involved in PLCe-mediated inflammatory cytokine release, Genetic Variants of PLCE1 Gene are not Associated with Colorectal Cancer., Studied six SNP loci, In conclusion, our results suggest that miR-328 suppresses the survival of EC cells by regulating PLCE1 expression, which might be a potential therapeutic method for EC.,
OMIM_DISEASE Nephrotic syndrome, type 3,
SP_COMMENT catalytic activity:1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol., cofactor:Calcium., disease:Defects in PLCE1 are the cause of nephrotic syndrome type 3 (NPHS3) [MIM:610725]; also called early-onset nephrotic syndrome type 3. Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, hypoalbuminemia, edema. End-stage kidney disease is observed in steroid-resistant nephrotic syndrome., domain:The Ras-associating domain 1 is degenerated and may not bind HRAS. The Ras-associating domain 2 mediates interaction with GTP-bound HRAS, RAP1A, RAP2A and RAP2B and recruitment of HRAS to the cell membrane., domain:The Ras-GEF domain has a GEF activity towards HRAS and RAP1A. Mediates activation of the mitogen-activated protein kinase pathway., enzyme regulation:Activated by the heterotrimeric G-protein subunits GNA12, GNA13 and GNB1-GNG2. Activated by HRAS, RAP1A, RHOA, RHOB, RHOC, RRAS and RRAS2. Activated by the G(s)-coupled GPCRs ADRB2, PTGER1 and CHRM3 through cyclic-AMP formation and RAP2B activation. Inhibited by G(i)-coupled GPCRs., function:The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation., induction:Overexpressed during heart failure., similarity:Contains 1 C2 domain., similarity:Contains 1 PI-PLC X-box domain., similarity:Contains 1 PI-PLC Y-box domain., similarity:Contains 1 Ras-GEF domain., similarity:Contains 2 Ras-associating domains., subcellular location:Recruited to plasma membrane by activated HRAS and RAP2. Recruited to perinuclear membrane by activated RAP1A. Isoform 1 and isoform 2 associates with Golgi membranes., subunit:Interacts with RHOA (By similarity). Interacts with IQGAP1, HRAS, RAP1A, RAP2A, RAP2B and RRAS., tissue specificity:Widely expressed. Isoform 1 is broadly expressed and only absent in peripheral blood leukocytes. Isoform 2 is specifically expressed in placenta, lung and spleen.,