Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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actin gamma 1(ACTG1) actin gamma 1(ACTG1) Related Genes Homo sapiens
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,
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.,