Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
The Database for Annotation, Visualization and Integrated Discovery
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catenin alpha 1(CTNNA1) catenin alpha 1(CTNNA1) Related Genes Homo sapiens
GENERIF_SUMMARY Abnormal E-cadherin and alpha-catenin and beta-catenin in pancreatic carcinoma tissues. Abnormal E-cadherin and alpha-catenin with differentiation, lymph node and liver metastases. Aberrant beta-catenin with lymph node and liver metastases., Pancreatic cancer likely occurs in case of the inactivation of E-cadherin and alpha-catenin genes and abnormal expression of proteins, alpha-catenin has a role in cell growth control in three-dimensional culture, Allelic imbalance occurs at two distinct regions of which one includes the CTNNA1 gene in ovarian cancer., Our results suggest that alpha-catenin links CCR5 and CXCR4 to the cytoskeleton and is involved in the organization of these receptors at the membrane, thereby possibly affecting HIV-1 infection., ubiquitin-independent degradation of alpha-catenin regulates beta-catenin signaling and maintenance of the differentiated phenotype of articular chondrocytes, Loss of expression in squamous cell carcinoma of the floor of the mouth correlated significantly with poor prognosis, Downregulation of alpha-catenin expression is common in gastric carcinoma, These results indicate that the interaction of alpha-catenin and actin functions in the assembly of desmosomes in epithelial cells., Cdc42 regulates AJ permeability by controlling the binding of alpha-catenin with beta-catenin and the consequent interaction of the VE-cadherin/catenin complex with the actin cytoskeleton., Direct attachment of alpha-catenin to F-actin is required to promote cadherin-mediated contact formation and strong cell-cell adhesive states., The expression of alpha-catenin was significantly lower in the invasive group than in the non-invasive group of pituitary adenoma., we explored the implication of three proteins (E-cadherin, a- and b-catenins) that form the cadherin-catenin complex, a receptorial structure strictly involved in tumoral vascular invasion and embolization in this biologic event, The previously reported characteristics of this mutation, E-cadherin (V832M) do not apply to human epithelial cells expressing this mutant protein., prognostic and chemosensitivity marker for invasive bladder cancer, removal of N-glycans on E-cadherin resulted in elevated tyrosine phosphorylation level of beta-catenin and reduced beta- and alpha-catenins at adherens junctions, These results suggest induction of SRF-mediated transcription by alpha(E)-catenin either downstream of RhoA or via a parallel pathway., Rsults suggest that the lower epithelial alpha-catenin, E-cadherin and (or) ZO-1 expression in patients with atopic asthma contributes to a defective airway epithelial barrier and a higher influx of eosinophils in the epithelium., This study reveals for the first time that alpha-catenin is a key regulator of beta-catenin transcriptional activity and that the status of alpha-catenin expression in tumor tissues might have prognostic value for Src targeted therapy, The mean values of the percentage of positive cells for the tested proteins between E-AD vs. AD did not demonstrate any statistically significant difference except for alpha-catenin., loss of alpha-catenin alone drastically reduces the adhesive force between individual cadherin pairs on adjoining cells, explain the global loss of cell adhesion in human breast cancer cells, increased E-cadherin and alpha-catenin expression and reduced Wnt signaling might be involved in the mechanisms of tumor suppressor function of BCSC-1., This study identifies the E-cadherin/catenin complex as a discriminative, partly polyamine-regulated feature of IL-4/IL-13-exposed alternatively activated macrophages, Loss of alpha-catenin resulted in increased in vitro tumorigenic characteristics (increased soft agarose colony formation, clonogenic survival after suspension, and survival in suspension)., 4 biallelic inactivating alpha-catenin mutations were found among 55 human breast cancer cell lines. All caused premature termination. Loss of alpha-catenin protein expression was associated with the lobular subtype in primary breast cancers., an interaction of CAR and alpha-catenin mediates the impact of CAR on cell proliferation, migration, invasion, and morphology., Methylation and inactivation of CTNNA1 is associated with advanced myeloid malignancies., results show that the association of alpha-catenin with the cadherin-catenin complex is required for efficient leukocyte transendothelial migration, The EGFR-ERK-CK2-mediated phosphorylation of alpha-catenin promotes beta-catenin transactivation and tumor cell invasion., Data show that actin bundle formation and subsequent linkage between actin bundles and VE-cadherin through alpha- and beta-catenins are important for the stabilization of VE-cadherin at the cell-cell contacts in cAMP-Epac-Rap1 signal-activated cells., An evolutionarily conserved PTEN-C/EBPalpha-CTNNA1 axis controls myeloid development and transformation., The E-cadherin-catenin complex is the factor indicative of metastasis and disease progression in gastric cancer., The study objective was to assess changes in the expressions of E-cadherin and alpha-, beta- and gamma-catenin proteins in pancreatic duct carcinoma in correlation with clinicopathological parameters, lymph node involvement and distant metastases., Data show that E-cadherin and alpha-catenin were predominantly expressed in the cell membranes, whereas beta- and gamma-catenin were found both in the cell membrane and cytoplasm., These results suggest that JNK affects the association of alpha-catenin with the adherens junction complex and regulates adherens junctions., study presents evidence that in the cadherin-catenin complex alpha-catenin contributes to the binding strength of another catenin, p120, to the same complex; data suggest alpha-catenin-p120 contact within the cadherin-catenin complex can regulate cadherin trafficking, Report loss of CTNNA1 as lobular carcinoma in situ of the breast progresses to more invasive lesions., Data demonstrate that the expression of alpha-E-catenin is increased by Sec6 siRNAs, and E-cadherin and beta-catenin localize mainly at the cell-cell contact region in HSC3 cells, which were transfected with Sec6 siRNA., A discrete trimeric complex of beta-catenin, alpha-catenin and the tumor suppressor APC, forms in the cytoplasm in response to Wnt signaling., binding studies suggest that vinculin must be in an activated state to bind to alpha-catenin and that this interaction is stabilized by the formation of a ternary alpha-catenin-vinculin-F-actin complex, which can be formed via the F-actin binding domain, alpha- and beta-catenins may be important in the early stages of phyllodes tumours development, while E-cadherin may be required for malignant development, The expressions of E-cd and alpha-cat are significantly lower in prostate cancer than in benign prostatic hyperplasia, and they are not associated with cancerous metastasis, but negatively correlated with the PSA level in PCa patients., A germline truncating allele of alpha-E-catenin (CTNNA1) was identified that was present in two family members with invasive diffuse gastric cancer and four in which intramucosal signet ring cells were detected as part of endoscopic surveillance., CTNNA1 expression is specifically downregulated in basal-like breast cancer subtype, correlates with clinical outcome and inversely correlates with TNF and RELB expression., CTNNA1 methylation is a recurrent event but has no influence on prognosis in acute myeloid leukemia, CTNNA1 hypermethylation was detected in three out of four with isolated del(5q), one with trisomy 11, one with monosomy 7, one out of four with del(20q), and one out of seven with complex abnormalities, but in none with trisomy 8., alpha-catenin functions as a tumor suppressor in E-cadherin-negative basal like breast cancer cells by inhibiting NF-kappaB signaling., alpha-catenin is a reversible, stretch-activatable sensor that mechanically links cadherin complexes and actin and is an indispensable player in cadherin-specific mechanotransduction at intercellular junctions., The results demonstrate a Fas-mediated apoptotic signaling pathway that is enhanced by the age-dependent loss of alpha(E)-catenin in renal tubule epithelial cells., This work identified alpha-catenin as another molecule in addition to E- and P-cadherin that were targeted to inactivate homotypic cell-in-cell structures formation in human tumor cells., Actin-dependent CTNNA1 clustering is a unique molecular mechanism mediating both integrity and reassembly of the cell-cell adhesive interface formed through weak cis- and trans-intercadherin interactions., study identifies CTNNA1 gene variants as a cause of macular dystrophy, indicates that CTNNA1 is involved in maintaining RPE integrity, Progressive loss of e-cadherin/alpha-catenin expression is associated with an aggressive phenotype (low differentiation, increased metastatic activity/advanced stage) in thyroid carcinomas.,
SP_COMMENT disease:Abnormalities of alpha-catenin are involved in the process of cancer invasion and metastasis., function:Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. May play a crucial role in cell differentiation., PTM:Sumoylated., similarity:Belongs to the vinculin/alpha-catenin family., subcellular location:Found at cell-cell boundaries and probably at cell-matrix boundaries., subunit:Binds MLLT4 and F-actin (By similarity). Interacts directly with PSEN1 and CTNNB1 to form part of the PSEN1/cadherin/catenin adhesion complex. Interacts with ARHGAP21 and with JUB., tissue specificity:Expressed ubiquitously in normal tissues.,
catenin alpha 2(CTNNA2) catenin alpha 2(CTNNA2) Related Genes Homo sapiens
CYTOBAND 2p12-p11.1,
GENERIF_SUMMARY CTNNA2 is differentially regulated by smoking in schizophrenic patients., Common variants in CTNNA2 are associated with excitement-seeking and risk-taking., CTNNA2 and CTNNA3 are tumor suppressor genes frequently mutated in laryngeal carcinomas., CTNNA2 gene increases the risk of alcohol addiction in White women., Single nucleotide polymorphism in CTNNA2 is associated with breast cancer susceptibility.,
SP_COMMENT similarity:Belongs to the vinculin/alpha-catenin family.,
catenin alpha 3(CTNNA3) catenin alpha 3(CTNNA3) Related Genes Homo sapiens
CYTOBAND 10q22.2,
GENERIF_SUMMARY gene localized on chromosome 10q21 and is 1,776 kb in length; mutation screening of all 18 exons of the CTNNA3 gene in a family showing dilated cardiomyopathy (DCM)linkage to the 10q21-q23 locus, however, has not detected any DCM-linked CTNNA3 mutations, Alpha-T catenin gene has variants which influence Abeta42 and contribute to the previously reported linkage for plasma Abeta42 in late-onset Alzheimer's disease families., We found no association between CTNNA3 and Alzheimer disease in subjects showing linkage to chromosome 10, nor were these SNPs associated with Abeta deposition in brain. CTNNA3 is unlikely to account for the susceptibility locus on chromosome 10, GATA-4 and MEF2C transcription factors transactivate the alphaT-catenin gene CTNNA3 in a tissue-specific manner., Dosage compensation of CTNNA3 and p57KIP2 in the placenta shares a conserved regulatory mechanism., VR22 or a nearby gene influences susceptibility to Alzheimer's disease, and the effect is dependent on APOE status, This is the first study to report evidence of an association between a potentially functional, non-synonymous SNP in VR22 and the risk for Alzheimer's disease., In conclusion, monoallelic and biallelic CTNNA3 expression patterns are demonstrable in tumor bladder tissue, whereas normal cases show only biallelic expression., By providing an extra link between the cadherin-catenin complex and intermediate filaments, the binding of alphaT-catenin to plakophilin-2 is proposed to be a means of modulating and strengthening cell-cell adhesion between cardiac muscle cells., CTNNA3 may affect late-onset Alzheimer's disease through a female-specific mechanism independent of the APOE-epsilon4 allele., Significant association with late-onset Alzheimer's disease for 4 SNPs, Results suggest that multiple genetic polymorphisms of CTNNA3 may be determinants of susceptibility to toluene diisocyanate-induced induced asthma., The risk allele (Y153H) of the preeclampsia susceptibility gene STOX1 negatively regulates trophoblast invasion by upregulation of the cell-cell adhesion protein a-T-catenin (CTNNA3)., Our comprehensive mutation scanning did not identify any Arrhythmogenic right ventricular cardiomyopathy (ARVC) causing mutations., Low alpha catenin is involved in colorectal cancer metastasis., Apart from the complexity of its regulation, alterations in both CTNNA3 and LRTMM3 are implicated in human disease., A VE-cadherin-PAR3-alpha-catenin complex regulates the Golgi localization and activity of cytosolic phospholipase A(2)alpha in endothelial cells., Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints., GWAS study of diisocyanate asthma demonstrates an association between two closely linked CTNNA3 gene SNPs and diisocyanate asthma., Results suggest a causal relationship between CTNNA3 mutations and arrhythmogenic right ventricular cardiomyopathy, Significant interaction with maternal CMV infection was found for rs7902091 (PSNP x CMV=7.3 x 10-7) in CTNNA3, a gene not previously implicated in schizophrenia., CTNNA2 and CTNNA3 are tumor suppressor genes frequently mutated in laryngeal carcinomas., These results suggest aberrant Claudin 7, alpha - and beta-catenin expression and/or localisation patterns may be putative markers for distinguishing localised prostate cancer from aggressive metastatic disease when used collectively., CTNNA3 is not major contributor or genetic risk factor for childhood asthma but rather influence the disease expression and response to therapy., This study demonstrated that the copy number variations of CTNNA3 relate to opioid dependence., CTNNA3 and SEMA3D, Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy, Two African-ancestry specific variants were found to be significantly associated with metabolic syndrome S,
OMIM_DISEASE Arrhythmogenic right ventricular dysplasia, familial, 13,
SP_COMMENT function:May be involved in formation of stretch-resistant cell-cell adhesion complexes., similarity:Belongs to the vinculin/alpha-catenin family., subcellular location:Localizes to intercalated disks of cardiomyocytes and in peritubular myoid cells of testis, and colocalizes with CTNNA1 and CTNNA2., subunit:Interacts with CTNNB1., tissue specificity:Predominantly expressed in heart and testis. Expressed at lower levels in brain, kidney, liver and skeletal muscle.,