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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DAVID Functional Annotation Table
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actinin alpha 4(ACTN4) actinin alpha 4(ACTN4) Related Genes Homo sapiens
CHROMOSOME 19,
CYTOBAND 19q13,
ENSEMBL_GENE_ID ENSG00000130402,
GENERIF_SUMMARY interaction with tight junction protein MAGI-1, isolated two anti-alpha-actinin-4 T cell clones from the same patient TIL and from his peripheral blood lymphocytes (PBLs) by using tetramers of soluble HLA-A2 molecules loaded with the mutated peptide, Sporadic FSGS is a heterogeneous disease, since ACTN4 and podocin genes are not found in our patients with sporadic FSGS., ACTN4 has a role promoting tumorigenicity and regulating cell motility, Actinin alpha-4 is mainly present intracellularly and is involved in cellular motility via interaction with the actin cytoskeleton, thus probably affecting the metastatic potential of tumor cells., Results suggest that humanin is a novel binding partner of the alpha-actinin-4 R1-R4 domain in podocytes., the endosome-associated protein hrs is a subunit of a protein complex containing actinin-4, BERP, and myosin V that is necessary for efficient TfR recycling but not for EGFR degradation, No mutations detected in Japanese congenital nephrotic synddrome patients., ACTN4 mutations accounts for about 3.5% of familial focal glomerulosclerosis., Interaction of alpha 4 actinin with ICAM-1 is required for leukocyte extravasation., The role of ACTN4 in MEF2A transcription via HDAC7 antagonism is reported., A critical regulator of AKT1 localization and function., Cytokine activation of MAPK14 and apoptosis is opposed by ACTN4 targeting of protein phosphatase 2A for site-specific dephosphorylation of MEK3., actinin-4...could be a novel prognostic indicator for patients with ovarian carcinomas., exposure of a buried actin-binding site 1 in mutant alpha-actinin-4 causes an increase in its actin-binding affinity, common variants in LRRC7, KIRREL, NPHS2 and ACTN4 do not appeear to contribute to susceptibility to diabetic nephropathy in Finnish patients with type 1 diabetes, Crystal structure of the actin-binding domain of alpha-actininin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis., eNOS activity in vascular endothelial cells is tonically and dynamically regulated by competitive interaction with alpha-actinin-4 and calmodulin., alpha-actinin-4 is important for the NF-kappaB nuclear translocation and its functions inside the nucleus., Motility-related ACTN4 is associated with advanced and metastatic ovarian carcinoma., A novel ACTN4 mutation, p.Ser262Phe, was detected in the patients, and their father was found to have a germline mosaicism for the mutation in these patients with familial focal segmental glomerulosclerosis, low expression levels of alpha-actinin-4 mRNA and protein are linked to the progression of glomerulopathy and proteinuria in human diabetic nephropathy, Actinin-4 contributes to the invasive growth of pancreatic ductal carcinoma, and ACTN4 is one of the candidate oncogenes in this chromosome locus., Mutations and single nucleotide polymorphisms of the ACTN4 gene may be associated with Chinese idiopathic focal segmental glomerulosclerosis., The actinin-4 gene may serve as a predictor of poor outcome and tumor chemoresistance in patients with advanced-stage ovarian cancers., Mutations in ACTN4, the gene encoding the actin-binding protein alpha-actinin-4, are a cause of focal segmental glomerulosclerosis., Heterozygous mutations in the promoters of the ACTN4 and SYNPO genes are found in patients with idiopathic focal segmental glomerulosclerosis., Data show that actinin-4 expression levels significantly correlate with worse survival after PDAC resection., expression of alpha-actinin-4 was significantly associated with invasion potential defined by the Matrigel invasion assay. Cancer cell lines with higher alpha-actinin-4 expression had greater invasive potential., EGF regulates the actin binding activity of ACTN4 by inducing tyrosyl-directed phosphorylation, The absence of mutations of ACTN4 in this study suggests that there are other genetic causes of steroid-resistant nephrotic syndrome, Both alpha-actinin-1 and alpha-actinin-4 make critical and distinct contributions to cytoskeletal organization, rigidity-sensing, and motility of glioma cells., Alpha-actinin 1 and 4 are differentially regulated during the development and progression of astrocytomas because each of these isoforms uniquely contributes to distinct malignant properties of astrocytoma cells., The association of ACTN4 with different ribonucleoproteins suggests that a major function of nuclear ACTN4 may be regulation of mRNA metabolism and signaling., Levels of eEF1A2 and alpha-actinin-4 mRNA appeared to be unrelated to breast tumour size, except for a significant down-regulation of alpha-actinin-4 mRNA in T3 cases., The actin-binding protein, actinin alpha 4 (ACTN4), is a nuclear receptor coactivator that promotes proliferation of MCF-7 breast cancer cells., Epothilone B antagonizes glioma cell motility associated with reorganization of the actin-binding protein alpha-actinin 4., The results suggest that the interaction between HAMLET and alpha-actinins promotes tumor cell detachment., The urinary mRNA profiles of synaptopodin, podocalyxin, CD2-AP, alpha-actin4, and podocin were found to increase with the progression of diabetic nephropathy., Alpha-actinin-4 and CLP36 protein deficiencies contribute to podocyte defects in multiple human glomerulopathies, non-muscle alpha-ACTN4, HSPA5 and cytoplasmic ACTB, should be targeted in idiopathic premature ovarian failure cases, The ACTN4-ABCF2 interaction was markedly enhanced by hypotonic stimulation., In 12 of 23 ACTN4-amplified ovarian clear-cell adenocarcinomas, the better differentiated carcinoma components exhibited fewer alterations than those with poorly differentiated histology., the first link between focal segmental glomerulosclerosis-linked ACTN4 mutants and transcriptional activation by nuclear receptor such as RARalpha and peroxisome proliferator-activated receptor gamma., MTBP also inhibited ACTN4-mediated F-actin bundling., A novel ACTN4 isoform was found in human epidermoid carcinoma cells. Analysis of ACTN4 mRNA showed the presence of a splice variant that lacked the exons 2-8., Depletion of alpha-actinin but not RhoA inhibition causes microtubules-cortex associations during early mitosis, novel extended LXXLL motif that is critical for interactions with both receptors and co-activators. This motif functions more efficiently in a spliced isoform of ACTN4 than it does in the full-length protein., there is limited evidence of association of the ACTN4 gene in African-Americans with non-diabetic end-stage renal disease, these results suggest that D5(H) of high molecular weight kininogen may modulate cell adhesion and invasion together with actinin-4., In actinin-4-knockdown keratinocytes, focal contact area is increased by 25%, and hemidesmosome proteins are mislocalized., The tyrosine phosphorylation of alpha-actinin1 at Y12 and alpha-actinin4 at Y265 is critical for dorsal stress fiber establishment, transverse arc maintenance and focal adhesion maturation., the C-terminal tail of alpha-actinin-4 is essential for its function in cell migration and adhesion to substratum., Data suggest that in the nucleus, ACTN4 functions as a selective transcriptional co-activator of RelA/p65., significant correlation between actinin-4 expression and infiltrating glioma grade, Actinin-alpha4 readily forms heterodimers composed of monomers that may have different properties and interacting proteins, thus altering our view of non-muscle actinin function., Mutations of TRPC6 and ACTN4 occur in only a minor portion of Chinese familial familial focal segmental glomerulosclerosis patients., results demonstrate that monoclonal C-7 antibody exerts an inhibitory effect on endothelium-dependent vasorelaxation induced by acetylcholine and that this response may at least partially result from the inhibition of alpha-actinin 4, Data suggest that ACTN4 plays roles in breast cancer tumorigenesis via promotion of cell proliferation, metastasis, and drug resistance., Increased expression of ACTN4 is associated with invasiveness of bladder cancer., 20 exonic and intronic substitutions were found among 48 Czech FSGS/MCD patients. 2242A>G is a candidate mutation in 1 patient. In IGA nephropathy 3 new substitutions were found, Multivariate analysis revealed that ACTN4 gene amplification was the most significant independent factor associated with an extremely high risk of death among 290 patients with stage I lung adenocarcinoma., Copy number increase of ACTN4 is a novel indicator for an unfavorable outcome in patients with salivary gland carcinoma., Actinin-4, a novel interacting partner of influenza A virus nucleoprotein, plays a crucial role in viral replication., High ACTN4 expression is associated with thyroid cancer, The mRNA/protein expressions of ACTN4a was higher in the stenotic colon segment tissue than in the normal colon segment tissue of Hirschsrung disease patients., key regulator of endothelial cell stiffness and of ICAM-1-mediated neutrophil transmigration, Estrogen promotes the invasion of ovarian cancer cells via activation of the PI3K/AKT pathway, downregulation of Ecadherin and upregulation of alphaactinin4., Findings suggest that alpha-Actinin-4 (ACTN4) plays an important role in maintaining the amoeboidal morphology of invasive melanoma and thus promoting dissemination through collagen-rich matrices., Knockdown of ACTN4 protein inhibited cell invasion and migration. These results suggest that ACTN4 is associated with lung cancer cell motility., ACTN4 is a transcriptional coactivator of NF-kappaB., The copy number of ACTN4 is a predictive biomarker for Chemoradiotherapy of locally advanced pancreatic cancer., ACTN4va expression was also significantly related to distant metastasis, ZYX defective binding to ACTN4, which occupies focal adhesions instead of ACTN1, induces the formation of immature focal adhesions, resulting in the enhancement of cell motility and invasion., The contribution of ACTN4 to the process of lung cancer metastasis to the brain could be mainly through regulation of actin cytoskeleton reorganization, cell motility, and focal adhesion., Using fluorescence recovery after photobleaching, we show that an ACTN4 mutation that causes human kidney disease roughly triples the wild-type binding affinity of ACTN4 to F-actin in cells, increasing the dissociation time from 29 +/- 13 to 86 +/- 29 s., alpha-actinin-4 is a novel group 1 mGluR-interacting partner that orchestrates spine dynamics and morphogenesis in neurons., SLK interacts with Tpr and alpha-actinin-4 in cells, and these protein-protein interactions may control the subcellular localization and the biological activity of SLK., This study identified alpha-actinin-4 as a novel NHERF1 interaction partner and provided new insights into the regulatory mechanism of the actin cytoskeleton by NHERF1., Selective regulation of NF-kappaB gene targets may indicate involvement of ACTN4 in determining the specificity of cell response to NF-kappaB activation in cells of different types. (Review),
OFFICIAL_GENE_SYMBOL ACTN4,
OMIM_DISEASE Glomerulosclerosis, focal segmental, 1,
SP_COMMENT disease:Cytoplasmic localization of ACTN4 may be associated with cancer metastases due to enhanced cell motility., disease:Defects in ACTN4 are the cause of focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]. FSGS1 is a common renal lesion characterized by increased urinary protein excretion (proteinuria) and decreasing kidney function (nephrotic syndrome). Renal insufficiency often progresses to end-stage renal disease (ESRD) (also known as end-stage renal failure), a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS1 is defined by the presence of segmental sclerosis in glomeruli, and is seen in all ethnic groups, although it is particularly common in individuals of African descent. FSGS1 occurs as an isolated primary condition or secondary to disorders as HIV infection, obesity, hypertension and diabetes. FSGS1 may also be inherited as a Mendelian trait., function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein., sequence caution:Sequencing errors. Compared to other mammalian sequences., similarity:Belongs to the alpha-actinin family., similarity:Contains 1 actin-binding domain., similarity:Contains 2 CH (calponin-homology) domains., similarity:Contains 2 EF-hand domains., similarity:Contains 4 spectrin repeats., subcellular location:Colocalizes with actin stress fibers. Nuclear translocation can be induced by the PI3 kinase inhibitor wortmannin or by cytochalasin D. Exclusively localized in the nucleus in a limited number of cell lines (breast cancer cell line MCF7, oral floor cancer IMC2, and bladder cancer KU7)., subunit:Homodimer; antiparallel (By similarity). Binds TRIM3 at the N-terminus (By similarity). Interacts with BAIAP1 and PDLIM2., tissue specificity:Widely expressed.,