Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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actin beta(ACTB) actin beta(ACTB) Related Genes Homo sapiens
CHROMOSOME 7,
CYTOBAND 7p15-p12,
ENSEMBL_GENE_ID ENSG00000075624,
GENERIF_SUMMARY region responsible for down-regulation of the gamma-actin gene during differentiation is not in the 3' end of the gene in contrast to that for beta-actin., human fibroblast cells infected by Cytomegalovirus could express immediate early mRNA and the expression of beta-actin mRNA decreased in a time- and titer-dependent manner, GLI oncogene is activated through fusion with the beta-actin gene (ACTB) in a group of distinctive pericytic neoplasms, characterization of the breakpoints of the ACTB-GLI and GLI-ACTB fusions at the genomic level in pericytoma with t(7;12), beta-actin localizes to an active U6 promoter in RNA polymerase III (pol III) and is essential for basal pol III transcription., Data lead to the conclusion that there is a distinct correlation between metastatic capacity of examined human colon adenocarcinoma cells, the state of actin polymerization, actin cytoskeleton organization and beta-actin expression., both monomeric and oligomeric or polymeric forms of actin are at play and raising the possibility that the equilibrium between them, perhaps differentially regulated at various intranuclear sites, may be a major determinant of nuclear function., beta-actin is a transcription factor stimulates eNOS expression; and the transcriptional effect appears to be 27nt-dependent, Actin could contribute to the initiation of apoptosis by enabling cytosolic pro-apoptotic proteins to be carried to mitochondria by the cytoskeleton-driven trafficking system., These findings suggest that mutations in beta actin may be associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia., The results from this controlled CCT-actin folding assay are consistent with a model where CCT and Ac(I) are in a binding pre-equilibrium with a rate-limiting binding step, followed by a faster ATP-driven processing to native actin., These data establish that the posttranscriptional event involving HuR-mediated beta-actin mRNA stabilization could be a part of the regulatory mechanisms responsible for maintaining cell integrity., Beta-actin can be directly tyrosine-phosphorylated by Src in vitro, and in a Src-dependent manner in cells. Moreover, beta-actin dynamics are suppressed when Src is rendered kinase-inactive., The specific and directed rearrangement of the beta-actin structure, seen in the natural beta-actin-TRiC system, is vital for guiding beta-actin to the native state., We observed the nuclear translocation of the transcription factor Nrf2 associated with thinning of the actin stress fibers., There was no significant difference in IL-4/beta-actin between the patients with AIH and the healthy controls. In contrast there was a significant difference of IFN-gamma/beta-actin between those two groups., Results show overexpression or depletion of RHA could influence the interaction of Pol II with beta-actin and beta-actin-involved gene transcription regulation., CTCF colocalizes with NELF on the U2 and beta-actin genes, raising the possibility that it helps the positioning and/or function of the NELF-dependent control point on these genes., MARCKS regulates lamellipodia formation induced by IGF-I via association with PIP2 and beta-actin at membrane microdomains., Data show that inducible Hox genes are selectively sensitive to the inhibition of actin polymerization and that actin polymerization is required for the assembly of a transcription complex on the regulatory region of the Hox genes., These results reveal new aspects of beta- and gamma-actin organization that support their functional diversity., Results suggest a novel mechanism by which cofilin is regulated by v-Src through tyrosine phosphorylation that triggers the degradation of cofilin through ubiquitination-proteosome pathway and reducing cellular F-actin contents and cell spreading., Immunoblot analysis revealed profoundly decreased beta-actin levels during Ectromelia virus infection replicative cycle in the infected cells 24 hrs post infection., The actin network plays a role in nuclear ERalpha actions in breast cancer cells., This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia, Data suggest that the existence of a common epitope on the molecules of phosducin and beta-actin may reflect a topological similarity of a small region of their surfaces., Findings indicate that activation of the cofilin-F-actin pathway contributes to tumor cell migration and metastasis enhanced by Aur-A, revealing a novel function for mitotic Aur-A kinase in tumor progression., Nuclear beta-actin controls growth arrest of epithelial cells., ACTB showed high expression in forensic skin and body-fluid samples, providing a suitable marker for skin identification, Data indicate taht candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified., non-muscle alpha-ACTN4, HSPA5 and cytoplasmic ACTB, should be targeted in idiopathic premature ovarian failure cases, Data show that ENOA, PARK7 and Beta-actin are proper reference standards in obesity studies based on omental fat., Antioxidant supplementation was noted to increase G6PDH in the pentose phosphate cycle and 18S rRNA in the ribosome. There were no significant changes in the gene expression levels of beta-ACT, Recombinant human actin is constantly shuttled into the murine nucleus by importin 9 and out by exportin 6. Nuclear actin is required for maximal transcription., identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively; suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes, Cofilin nuclear shuttling is critical for the cofilin-actin rod stress response., Data indicate beta-cytoplasmic (beta-CYA) and gamma-cytoplasmic (gamma-CYA) actins differential localization and dynamics at epithelial junctions., roles for undetected ACtB in liver cancer progression, These results indicate that F-actin in association with the M protein alters the interaction between the M and H proteins, thereby modulating measles virus cell-cell fusion and assembly., the roles of ACTB in tumors, Data suggest that P-glycoprotein associate with the F-actin cytoskeleton through ezrin/radixin/moesin (ERM) in CCR9/CCL25 induced multidrug resistance of acute T-lymphocytic leukemia (T-ALL) cells., Studies indicate that cofilin binds actin stoichiometrically - one cofilin molecule per actin filament subunit., Data indicate that monomeric actin probes concentrate in nuclear speckles., Studies indicate that that vinculin not only bundles actin filaments but can also cap these filaments and promote actin polymerization., Two variants of beta-actin, beta1 and beta2 were found in the Enterovirus 71-susceptible rhabdomyosarcoma cells, compared to Enterovirus 71-resistant cells that contains only one variant beta1., Mutations in ACTB cause a distinctly more severe phenotype than ACTG1 mutations in Baraitser-Winter syndrome., Results indicate that actin cytoskeleton is one of the upstream regulators of Hippo signaling., chorein interacts with beta-adducin and beta-actin., PDI appears to regulate cytoskeletal reorganization by the thiol-disulfide exchange in beta-actin via a redox-dependent mechanism., TIA proteins can function as long-term regulators of the ACTB mRNA metabolism in mouse and human cells., Thus, the nucleocapsid domain in HIV-1 Gag does not appear to have a role in actin recruitment or actin incorporation into HIV-1 particles., Taken together, these findings indicate that actin filament dynamics are dispensable for HIV-1 Gag assembly at the plasma membrane of HeLa cells., Downregulation of the HuR gene results in decreased beta-actin gene expression, which in turn results in decreased motility and proliferation of corneal fibroblasts., Data indicate the WASp-interacting protein (WIP)-Wiskott-Aldrich syndrome protein (WASp) interaction in the regulation of actin-dependent processes., The results indicate that the disease-related human beta-actin mutations p.R183W and p.E364K affect interdomain mobility and nucleotide interactions as a basis for the formation of disease phenotypes in patients., Data show that tripartite motif-containing 28 protein (TRIM28) and beta-actin were up-regulated in the glioblastoma multiforme (GBM) stem-like cells compared to the controls., Data suggest that by binding to both clathrin and F-actin, mammalian actin-binding protein 1 (mAbp1; HIP-55 or SH3P7) is specifically recruited at a late stage of clathrin-coated pits (CCPs) formation, which subsequently recruits dynamin to CCPs., Studies indicate that the process of megakaryocyte maturation and the formation of proplatelets are essential steps in the production of mature platelets and both depend heavily on the actin and microtubule cytoskeletons., crucial role of Glu270 in ADP-ribosylation of actin by Ia,
OFFICIAL_GENE_SYMBOL ACTB,
OMIM_DISEASE Baraitser-Winter syndrome 1, Dystonia, juvenile-onset,
SP_COMMENT disease:Defects in ACTB are a cause of dystonia juvenile-onset (DYTJ) [MIM:607371]. DYTJ is a form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTJ patients manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss., function:Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells., miscellaneous:In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility., similarity:Belongs to the actin family., subunit:Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Found in a complex with XPO6, Ran, ACTB and PFN1. Interacts with XPO6.,
actin gamma 1(ACTG1) actin gamma 1(ACTG1) Related Genes Homo sapiens
CHROMOSOME 17,
CYTOBAND 17q25,
ENSEMBL_GENE_ID ENSG00000184009,
GENERIF_SUMMARY RNA polymerase II accumulates in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes., the first description of a mutation in cytoskeletal, or nonmuscle, actin; with an autosomal dominant, progressive, sensorineural hearing loss phenotype, A missense mutation in the gamma actin 1 gene causes autosomal dominant hearing loss., Our data are consistent with the idea that DP assembles into nascent junctions from both diffusible and particulate pools in a temporally overlapping series of events triggered by cell-cell contact and regulated by actin and DP-IF interactions., Espins do not activate the Arp2/3 complex in vitro, and bundle assembly is not indicative of in-vitro nucleation activity.Our results suggest a novel way to build actin bundles at specific sites in cells., A major factor in the deafness caused by gamma-actin mutations is an altered ability of the actin filaments to be properly regulated by actin-binding proteins rather than an inability to polymerize., the present results do not indicate that mutations in ACTG1 are a frequent cause of autosomal-dominant postlingual sensorineural hearing impairment in Norway nor Denmark., actin and vimentin filaments can interact directly through the tail domain of vimentin, During cell membrane blebbing actin recruitment is involved in cortex assembly., In both AA and AL renal amyloidosis groups there were significant positive correlations between immunostaining of TGFbeta-1 and alpha-SMA., IQGAP1 regulates Salmonella invasion through interactions with actin, Rac1, and Cdc42, In this report we have used mutagenesis of the Talin1 I/LWEQ module to show that the amino acids responsible for dimerization are necessary for F-actin binding, stabilization and cross-linking of actin filaments, and focal adhesion targeting., analysis of the structural basis of profilin-actin complexes during filament elongation by Ena/VASP, In this study, a novel missense mutation (c.364A>G; p.I122V) co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls., Both RPEL peptides of the MAL protein bind to the G-actin hydrophobic cleft and to subdomain 3., This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia., Two novel ACTG1 missense mutations are associated with DFNA20/26 hearing impairment., audiometric phenotype of the Dutch DFNA20/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20/26. All suffered from hearing loss.This is the first known DFNA20/26 family that has experienced tinnitus., These results reveal new aspects of beta- and gamma-actin organization that support their functional diversity., This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia, actin participates in transcription elongation by recruiting Cdk9,a catalytic subunit of P-TEFb, for phosphorylation of the Pol II C-terminal domain, and the actin-Cdk9 interaction promotes chromatin remodeling, Cytoplasmic G-actin concentration is a critical parameter for determining the extent of stimulus-induced G-actin assembly and cell extension., knockdown of gamma-actin significantly reduced speed of motility and severely affected the cell's ability to explore, which was, in part, due to a loss of cell polarity, identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively; suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes, These results showed the biphasic F-actin dynamics in herpes simplex virus 1 neuronal infection and confirmed the association of F-actin with the changes in the expression and activity of cofilin 1., Data indicate beta-cytoplasmic (beta-CYA) and gamma-cytoplasmic (gamma-CYA) actins differential localization and dynamics at epithelial junctions., the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant., Mutations in ACTB cause a distinctly more severe phenotype than ACTG1 mutations in Baraitser-Winter syndrome., The data, for the first time, link ASAP3 with ACTG1 in the regulation of cytoskeletal maintenance and cell motility, The actin/MKL1 signalling pathway influences cell growth and gene expression through large-scale chromatin reorganization and histone post-translational modifications., In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations for ACTG1 gene associated autosomal dominant sensorineural hearing loss, Three unrelated cases of rare ACTG1 variants in fetal microlissencephaly have been described., a novel mutation in ACTG1 was found to be co-segregated with hearing loss and the genetic cause of autosomal dominant nonsyndromic hearing impairment in a Chinese family,
OFFICIAL_GENE_SYMBOL ACTG1,
OMIM_DISEASE Deafness, autosomal dominant 20/26, Baraitser-Winter syndrome 2,
SP_COMMENT disease:Defects in ACTG1 are the cause of non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20) [MIM:604717]; also called autosomal dominant deafness type 26 (DFNA26). DFNA20 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information., function:Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells., miscellaneous:In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility., similarity:Belongs to the actin family., subunit:Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others.,