Affinage

ACTB

Actin, cytoplasmic 1 · UniProt P60709

Round 2 corrected
Length
375 aa
Mass
41.7 kDa
Annotated
2026-04-28
116 papers in source corpus 18 papers cited in narrative 18 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

Beta-actin (ACTB) is a ubiquitously expressed cytoskeletal protein that serves dual roles as a core component of the dynamic actin filament network governing cell migration, adhesion, and synaptic plasticity, and as a functionally required subunit of the BAF/SWI/SNF chromatin-remodeling complex in the nucleus. As a cytoplasmic filament, beta-actin undergoes tightly regulated polymerization–depolymerization cycles modulated by profilin-1 and cofilin, and its protein-specific sequence is uniquely required for auditory stereocilia maintenance (PMID:30012594, PMID:39271101, PMID:35313204). Within the BAF complex, beta-actin (together with BAF53) is required for maximal BRG1 ATPase activity and chromatin association, and SETD3-mediated methylation of H73 directs ACTB–SMARCA4 colocalization at specific genomic loci to regulate transcription of cell-adhesion and translation genes (PMID:9845365, PMID:41881543). Gain-of-function ACTB missense mutations dysregulate actin polymerization dynamics and cause Baraitser-Winter syndrome with neuronal migration defects, while heterozygous loss-of-function variants selectively reduce nuclear beta-actin levels and cause a distinct pleiotropic developmental syndrome (PMID:22366783, PMID:29220674, PMID:41529692).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1983 High

    Cloning and sequencing of human beta-actin cDNA resolved that cytoplasmic actins possess a unique N-terminal sequence (Met-Asp-Asp-Asp) distinct from muscle alpha-actins, establishing ACTB as a molecularly distinct isoform.

    Evidence Full-length cDNA cloning and sequencing from human cells

    PMID:6865942

    Open questions at the time
    • No functional consequence of the N-terminal difference was established
    • Post-translational modification of the N-terminus not yet characterized
  2. 1985 High

    Determination of the complete ACTB gene structure (5 introns, single-copy gene) established the genomic framework and revealed conservation of untranslated regions under selective pressure, distinguishing ACTB from the numerous pseudogene copies.

    Evidence Genomic library screening, restriction mapping, and nucleotide sequencing of the human ACTB locus

    PMID:2994062 PMID:6322116

    Open questions at the time
    • Regulatory elements controlling tissue-specific expression not yet mapped
    • Functional significance of UTR conservation not determined
  3. 1998 High

    Identification of beta-actin as a bona fide functional subunit of the mammalian BAF/SWI/SNF chromatin-remodeling complex revealed an unexpected nuclear role: beta-actin (with BAF53) is required for maximal BRG1 ATPase activity and for BAF complex association with chromatin, linking actin to transcriptional regulation.

    Evidence Biochemical purification, peptide sequencing, ATPase assays, and chromatin-binding assays of the BAF complex

    PMID:8804307 PMID:9845365

    Open questions at the time
    • Structural basis for how beta-actin stimulates BRG1 ATPase activity unknown
    • Whether beta-actin within BAF retains polymerization capacity not resolved
  4. 2004 High

    Live-cell FRET imaging demonstrated that rapid shifts in the F-actin/G-actin equilibrium in dendritic spines directly underlie bidirectional synaptic plasticity, establishing actin dynamics as a core postsynaptic mechanism for learning-related structural changes.

    Evidence FRET-based F-actin/G-actin ratio imaging in rat hippocampal neuron dendritic spines during tetanic and low-frequency stimulation

    PMID:15361876

    Open questions at the time
    • Relative contributions of beta-actin versus gamma-actin in spines not distinguished
    • Upstream signaling pathways linking synaptic activity to actin equilibrium not fully mapped
  5. 2012 High

    Discovery that de novo ACTB missense mutations (e.g. p.Arg196His) cause Baraitser-Winter syndrome established the first causal link between cytoplasmic actin variants and a human developmental disorder featuring neuronal migration defects.

    Evidence Whole-exome sequencing of proband-parent trios with Sanger validation in 15 additional affected individuals

    PMID:22366783

    Open questions at the time
    • Mechanism by which specific missense variants disrupt neuronal migration not yet defined
    • Whether mutations act through cytoplasmic or nuclear actin pathways unclear
  6. 2017 High

    Heterozygous ACTB loss-of-function mutations were shown to cause a distinct developmental syndrome through selective reduction of nuclear (but not cytoplasmic) beta-actin, impaired cell migration, and reduced proliferation, demonstrating dose-sensitivity of nuclear actin functions.

    Evidence Patient fibroblast analysis, ACTB siRNA knockdown phenocopy, subcellular fractionation, cell cycle gene expression profiling

    PMID:29220674

    Open questions at the time
    • Which nuclear actin-dependent complexes are most affected by haploinsufficiency not determined
    • Whether nuclear actin reduction also impairs BAF complex function in patient cells not tested
  7. 2018 High

    Precise gene-editing replacement of beta-actin coding sequence with gamma-actin at the endogenous Actb locus showed that beta-actin protein is dispensable for general cellular functions but specifically required for auditory stereocilia maintenance, separating protein-specific from gene-regulatory roles.

    Evidence CRISPR knock-in mice replacing beta-actin with gamma-actin coding residues, auditory testing, stereocilia microscopy

    PMID:30012594

    Open questions at the time
    • Molecular basis for why stereocilia specifically require beta-actin unknown
    • Whether stereocilia defect reflects altered actin-binding-protein interactions not tested
  8. 2022 High

    Biochemical characterization of the ACTB p.S368fs thrombocytopenia-associated variant revealed severely impaired actin nucleation, polymerization, and reduced profilin-1 affinity, demonstrating that C-terminal mutations cause allosteric destabilization affecting multiple binding interfaces.

    Evidence Recombinant protein pyrene actin polymerization assays, profilin/cofilin/myosin binding assays, thermal denaturation

    PMID:35313204

    Open questions at the time
    • In vivo consequences for megakaryocyte/platelet actin dynamics not examined
    • Whether profilin affinity loss is the primary driver of the platelet phenotype is unresolved
  9. 2024 High

    The Baraitser-Winter variant p.S348L was shown to impair profilin-1 binding and epithelial junction localization, directly connecting defective profilin-mediated actin polymerization to orofacial clefting through aberrant epithelial adhesion and migration.

    Evidence MDCK cell junction assays, Xenopus laevis embryo disease model, profilin-1 binding assays, yeast complementation

    PMID:39271101

    Open questions at the time
    • Whether profilin-1 binding deficiency is the universal mechanism for all Baraitser-Winter ACTB variants not established
    • Contribution of nuclear actin disruption to the orofacial phenotype not assessed
  10. 2026 High

    SETD3-mediated methylation of beta-actin at H73 was shown to control ACTB genomic distribution and direct SMARCA4 colocalization at specific loci, establishing a post-translational modification axis that specifies the transcriptional output of nuclear beta-actin through the BAF complex.

    Evidence ChIP-seq for ACTB genomic binding, SETD3 knockout/catalytic-dead mutant cells, proteomics, SMARCA4 colocalization analysis in colorectal cancer cells

    PMID:41881543

    Open questions at the time
    • Whether H73 methylation regulates BAF complex assembly or only targeting is unresolved
    • Generalizability beyond colorectal cancer cells not tested
  11. 2026 High

    A comprehensive genotype-phenotype analysis of 290 individuals established that ACTB variants produce at least eight distinct clinical entities: missense variants cause dysregulated polymerization and neuronal migration defects in iPSC models, while loss-of-function variants undergo rapid degradation and cause milder phenotypes, unifying the actinopathy spectrum.

    Evidence Clinical cohort genomics, patient-derived cells, polymerization assays, iPSC-derived neuronal models, heterozygous Actb knockout mouse brain analysis

    PMID:41529692

    Open questions at the time
    • Molecular basis for phenotypic variability among different missense variants not fully resolved
    • Whether nuclear versus cytoplasmic actin dysfunction predominates in each syndrome subtype is unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • The structural basis for beta-actin's specific role within the BAF complex (as distinct from gamma-actin), the mechanism by which H73 methylation redirects chromatin targeting, and how individual disease-causing missense mutations differentially perturb cytoplasmic versus nuclear actin functions remain unresolved.
  • No high-resolution structure of beta-actin within the assembled BAF complex
  • No systematic comparison of nuclear versus cytoplasmic actin pools for each disease variant
  • How beta-actin's four unique residues (versus gamma-actin) confer stereocilia and BAF specificity is unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 4 GO:0008092 cytoskeletal protein binding 2 GO:0140110 transcription regulator activity 2
Localization
GO:0005856 cytoskeleton 5 GO:0005634 nucleus 3 GO:0005829 cytosol 2 GO:0005886 plasma membrane 2
Pathway
R-HSA-1643685 Disease 5 R-HSA-4839726 Chromatin organization 3 R-HSA-112316 Neuronal System 2 R-HSA-1266738 Developmental Biology 2 R-HSA-74160 Gene expression (Transcription) 2
Partners
BAF53BRG1NRF1PFN1SETD3SMARCA4
Complex memberships
BAF/SWI/SNF (mammalian SWI/SNF chromatin-remodeling complex)

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1983 Full-length cDNA cloning and sequencing of human beta-actin (ACTB) revealed that cytoplasmic beta- and gamma-actins begin with Met-Asp-Asp-Asp and Met-Glu-Glu-Glu respectively, lacking the N-terminal cysteine present in skeletal muscle alpha-actin that is post-translationally removed. This established the distinct N-terminal processing of cytoplasmic versus muscle actins. cDNA library construction, size-fractionation, DNA sequencing Molecular and cellular biology High 6865942
1984 Complete nucleotide sequencing of human beta-actin cDNA revealed high conservation (>80% similarity) in both 5' and 3' untranslated regions between human and rat beta-actin, with the 3' UTR also strongly hybridizing to chick beta-actin mRNA, indicating strong selective pressure on non-translated segments. DNA sequencing, cross-species hybridization Nucleic acids research High 6322116
1985 The human cytoplasmic beta-actin gene contains five introns: one large intron in the 5' untranslated region (6 nucleotides upstream of ATG) and four within the coding region at codons 41/42, 121/122, 267, and 327/328. Unlike muscle actin genes, the beta-actin gene lacks a cysteine codon between ATG and the mature protein N-terminus. Hybridization indicated a single beta-actin gene in the human genome. Genomic library screening, restriction mapping, nucleotide sequencing Proceedings of the National Academy of Sciences of the United States of America High 2994062
1996 Beta-actin was identified as a bona fide subunit of mammalian SWI/SNF (BAF) chromatin-remodeling complexes. Purification and peptide sequencing of BAF complex subunits revealed beta-actin (alongside a novel actin-related protein BAF53) as components. The BAF complex exists in multiple distinct forms (9–12 subunits each) with tissue-specific composition. Biochemical purification, peptide sequencing, immunopurification Genes & development High 8804307
1998 Beta-actin and BAF53 (an actin-related protein) within the BAF/SWI/SNF complex are required for maximal ATPase activity of BRG1 and are necessary for association of the BAF complex with chromatin/matrix. PIP2 (regulated by T-cell receptor activation) selectively targets the BAF complex to chromatin. This established beta-actin as a functionally required subunit of a chromatin-remodeling complex that links membrane signaling to chromatin regulation. Biochemical purification, ATPase assay, chromatin-binding assay, peptide sequencing Cell High 9845365
1999 Reconstitution of a core SWI/SNF chromatin-remodeling complex from purified subunits showed that BRG1 alone can remodel nucleosomes, and addition of INI1, BAF155, and BAF170 (which co-purify with beta-actin) increases remodeling activity to levels comparable to the whole hSWI/SNF complex, defining the functional core of hSWI/SNF. Recombinant protein reconstitution, nucleosome remodeling assay Molecular cell High 10078207
2004 Rapid and persistent actin dynamics (shift of F-actin/G-actin equilibrium) in dendritic spines regulate postsynaptic reorganization underlying bidirectional synaptic plasticity. Tetanic stimulation caused a shift toward F-actin (enlarging spines and increasing postsynaptic binding capacity), while prolonged low-frequency stimulation shifted equilibrium toward G-actin (reducing postsynaptic structure). This was demonstrated using a new FRET-based imaging technique monitoring actin equilibrium in rat hippocampal neurons. FRET-based live imaging of F-actin/G-actin ratio in hippocampal neuron dendritic spines Nature neuroscience High 15361876
2012 De novo missense mutations in ACTB (encoding beta-actin) cause Baraitser-Winter syndrome (BRWS), a developmental disorder with craniofacial features, ocular colobomata, and neuronal migration defects. Two recurrent mutations were identified: ACTB p.Arg196His and ACTG1 p.Ser155Phe, establishing that gain-of-function missense changes in cytoplasmic actin genes cause a specific human developmental disorder. Whole-exome sequencing of proband-parent trios, Sanger sequencing validation in 15 additional affected individuals Nature genetics High 22366783
2013 Functional characterization of the de novo ACTB missense variant p.E117K demonstrated that this mutation alters cell adhesion and polymer formation in vitro, supporting its pathogenic role. The E117 residue is in a region important for actin polymerization. Actin polymerization assay, cell adhesion assay, exome sequencing Human mutation Medium 23649928
2017 Heterozygous ACTB loss-of-function mutations (deletions, nonsense, frameshift) cause a pleiotropic developmental syndrome distinct from Baraitser-Winter syndrome. ACTB haploinsufficiency leads to: (1) altered cell shape and migration in fibroblasts; (2) reduced cell proliferation and altered expression of cell-cycle genes; (3) decreased amounts of nuclear beta-actin but not cytoplasmic beta-actin; (4) ACTB siRNA knockdown in wild-type fibroblasts phenocopied patient fibroblasts. This established that nuclear beta-actin levels are specifically sensitive to haploinsufficiency. Patient fibroblast analysis, ACTB siRNA knockdown, cell shape/migration assay, subcellular fractionation, cell cycle gene expression analysis American journal of human genetics High 29220674
2018 Gene editing of the endogenous mouse Actb locus to translate gamma-actin protein (replacing beta-actin sequence with the four differing residues of gamma-actin) demonstrated that beta-actin protein is not required for general cellular functions but is specifically necessary to maintain auditory stereocilia. Edited mice lacking beta-actin protein were viable without the severe phenotypes of Actb knockout, but developed progressive high-frequency hearing loss and stereocilia degeneration. CRISPR-mediated knock-in gene editing, mouse phenotyping, auditory testing, microscopy of stereocilia Proceedings of the National Academy of Sciences of the United States of America High 30012594
2020 CRISPR/Cas9(D10A)-mediated inactivation of ACTB or ACTG1 in human melanoma cells showed distinct roles: (1) beta-actin and gamma-actin have different subcellular distributions; (2) absence of one isoform is compensated by upregulation of the other; (3) gamma-actin knockout had more severe consequences on cell migration and invasion than beta-actin knockout; (4) ACTB knockout altered focal adhesion formation and FA-dependent signaling; (5) ACTG1 knockout increased bundled stress fibers but impaired lamellipodia formation. CRISPR/Cas9(D10A) gene inactivation, migration assay, invasion assay, focal adhesion analysis, immunofluorescence International journal of molecular sciences Medium 32326615
2021 Hypoxia increases beta-actin expression through transcriptional activation of the ACTB gene by Nuclear Respiratory Factor-1 (NRF-1). Three NRF-1 binding sites were identified in human ACTB (and conserved in mouse and rat). ChIP experiments demonstrated direct binding of NRF-1 to human ACTB and mouse Actb coding regions. Overexpression or silencing of NRF-1 correspondingly changed beta-actin levels. ChIP assay, NRF-1 overexpression/knockdown, hypoxia treatment (1% O2), comparative analysis in gastric cancer and normal cells Molekuliarnaia biologiia Medium 34097680
2022 The ACTB frameshift mutation p.S368fs (ACTB-associated syndromic thrombocytopenia) causes markedly reduced rates of actin nucleation and polymerization during spontaneous assembly, and lower affinity for human profilin-1 (as profilin-1 also showed reduced ability to extend the nucleation phase of p.S368fs). The C-terminal mutation also caused allosteric perturbations including a 7.9°C reduction in thermal denaturation temperature and a 2-fold increase in IC50 for DNase-I. Minor effects were found on cofilin and myosin interactions. Recombinant protein production, pyrene actin polymerization assay, profilin binding assay, cofilin/myosin interaction assay, thermal denaturation, DNase-I inhibition assay, nucleotide exchange kinetics European journal of cell biology High 35313204
2024 A missense ACTB variant (p.S348L) found in Baraitser-Winter syndrome patients with cleft lip/palate shows impaired ability to localize to epithelial junctions and impaired binding to PROFILIN1. In MDCK cells and Xenopus laevis embryo models, this defective profilin-1 binding compromised actin polymerization, leading to aberrant epithelial cell adhesion and migration that underlies orofacial cleft formation. Patient sequencing, MDCK cell line functional assays (junction localization, migration), Xenopus laevis disease model, profilin-1 binding assay, yeast complementation assay (S. cerevisiae pseudoheterozygote for S348L) Human molecular genetics High 39271101
2026 SETD3-mediated methylation of beta-actin at H73 regulates the genomic distribution of ACTB and controls transcription of genes involved in cell adhesion and mRNA translation in colorectal cancer cells. ACTB and SETD3 interact with multiple large protein complexes including those associated with transcriptional regulation. SETD3-mediated ACTB methylation is required for colocalization of SMARCA4 (SWI/SNF BAF complex subunit) at specific genomic loci, revealing an ACTB-SETD3-SMARCA4 transcriptional regulatory axis. ChIP-seq (ACTB genomic distribution), proteomics (ACTB/SETD3 interactome), SETD3 knockout/mutant cells, SMARCA4 colocalization analysis, cell adhesion and translation phenotypic assays Genome research High 41881543
2026 Comprehensive genomic and biological analysis of 290 individuals with ACTB/ACTG1 variants revealed that ACTB and ACTG1 variants generate at least eight distinct clinical disorders. Disease-causing ACTB missense variants cause dramatically dysregulated actin polymerization-depolymerization dynamics; in iPSC-derived models, these lead to neuronal migration defects. Heterozygous Actb knockout in mice causes altered neuronal cell morphology and abnormal expression of actin-related genes in newborn mouse brains. ACTB nonsense/frameshift variants causing rapid protein degradation result in milder phenotypes. Clinical cohort genomics (290 individuals), patient-derived cell characterization, mutant protein biochemistry (polymerization assays), iPSC-derived neuronal models, heterozygous Actb knockout mouse brain analysis American journal of human genetics High 41529692
2024 C. elegans models with nine patient-derived ACTB/ACTG1 mutations inserted into the cytoplasmic actin orthologue act-2 showed multiscale perturbations: micro-scale actin network defects, cell-scale abnormalities, morphogenesis failure, and behavioral phenotypes. The severity of defects correlated with clinical severity of patients' symptoms, validating C. elegans as a model for non-muscle actinopathy pathophysiology. CRISPR insertion of patient mutations into C. elegans act-2, quantitative actin network imaging, cell morphology analysis, morphogenesis assay, behavioral assay bioRxivpreprint Medium bio_10.1101_2024.07.22.604239

Source papers

Stage 0 corpus · 116 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2005 Towards a proteome-scale map of the human protein-protein interaction network. Nature 2090 16189514
2019 Blood-Brain Barrier: From Physiology to Disease and Back. Physiological reviews 1645 30280653
1983 Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed. Molecular and cellular biology 1496 6865942
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
2015 The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell 1118 26186194
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
1984 Evolutionary conservation in the untranslated regions of actin mRNAs: DNA sequence of a human beta-actin cDNA. Nucleic acids research 1056 6322116
2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell 1015 26496610
2014 A proteome-scale map of the human interactome network. Cell 977 25416956
2004 Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. Nature biotechnology 916 15592455
2001 LDL-receptor-related protein 6 is a receptor for Dickkopf proteins. Nature 905 11357136
2000 Involvement of the TIP60 histone acetylase complex in DNA repair and apoptosis. Cell 864 10966108
2020 A reference map of the human binary protein interactome. Nature 849 32296183
2018 VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Cell discovery 829 29507755
2002 Directed proteomic analysis of the human nucleolus. Current biology : CB 780 11790298
1985 Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns. Proceedings of the National Academy of Sciences of the United States of America 774 2994062
2003 Complete sequencing and characterization of 21,243 full-length human cDNAs. Nature genetics 754 14702039
2017 Roles of tau protein in health and disease. Acta neuropathologica 716 28386764
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2012 A census of human soluble protein complexes. Cell 689 22939629
2004 Rapid and persistent modulation of actin dynamics regulates postsynaptic reorganization underlying bidirectional plasticity. Nature neuroscience 658 15361876
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
1998 Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling. Cell 623 9845365
1996 Diversity and specialization of mammalian SWI/SNF complexes. Genes & development 597 8804307
2010 A Myc network accounts for similarities between embryonic stem and cancer cell transcription programs. Cell 565 20946988
2001 Intestinal epithelial cells secrete exosome-like vesicles. Gastroenterology 564 11487543
2002 Control of actin reorganization by Slingshot, a family of phosphatases that dephosphorylate ADF/cofilin. Cell 563 11832213
2000 Exit from G1 and S phase of the cell cycle is regulated by repressor complexes containing HDAC-Rb-hSWI/SNF and Rb-hSWI/SNF. Cell 540 10778858
2017 Anticancer sulfonamides target splicing by inducing RBM39 degradation via recruitment to DCAF15. Science (New York, N.Y.) 533 28302793
1999 Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits. Molecular cell 523 10078207
2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature genetics 232 22366783
2018 Diagnosis of known sarcoma fusions and novel fusion partners by targeted RNA sequencing with identification of a recurrent ACTB-FOSB fusion in pseudomyogenic hemangioendothelioma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 142 30459475
2012 ACTB in cancer. Clinica chimica acta; international journal of clinical chemistry 142 23266771
2004 Activation of the GLI oncogene through fusion with the beta-actin gene (ACTB) in a group of distinctive pericytic neoplasms: pericytoma with t(7;12). The American journal of pathology 135 15111311
2017 ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. American journal of human genetics 96 29220674
2012 Pseudogenes as weaknesses of ACTB (Actb) and GAPDH (Gapdh) used as reference genes in reverse transcription and polymerase chain reactions. PloS one 78 22927912
2018 Expanding the Spectrum of Genetic Alterations in Pseudomyogenic Hemangioendothelioma With Recurrent Novel ACTB-FOSB Gene Fusions. The American journal of surgical pathology 75 30256258
2013 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. European journal of human genetics : EJHG 69 23756437
2019 Pericytoma With t(7;12) and ACTB-GLI1 Fusion: Reevaluation of an Unusual Entity and its Relationship to the Spectrum of GLI1 Fusion-related Neoplasms. The American journal of surgical pathology 60 31567194
2011 TFRC and ACTB as the best reference genes to quantify Urokinase Plasminogen Activator in breast cancer. BMC research notes 50 21702980
2020 TFEB rearranged renal cell carcinoma. A clinicopathologic and molecular study of 13 cases. Tumors harboring MALAT1-TFEB, ACTB-TFEB, and the novel NEAT1-TFEB translocations constantly express PDL1. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 44 33208882
2016 Translocation t(7;12) as the sole chromosomal abnormality resulting in ACTB-GLI1 fusion in pediatric gastric pericytoma. Human pathology 42 26980027
2013 Familial or Sporadic Idiopathic Scoliosis - classification based on artificial neural network and GAPDH and ACTB transcription profile. Biomedical engineering online 42 23289769
2004 Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12). Biochemical and biophysical research communications 37 15555571
2018 Essential nucleotide- and protein-dependent functions of Actb/β-actin. Proceedings of the National Academy of Sciences of the United States of America 36 30012594
2016 ACTB, CDKN1B, GAPDH, GRB2, RHOA and SDCBP Were Identified as Reference Genes in Neuroendocrine Lung Cancer via the nCounter Technology. PloS one 30 27802291
2013 Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. Human mutation 30 23649928
2023 GLI1-Altered Mesenchymal Tumors With ACTB or PTCH1 Fusion: A Molecular and Clinicopathologic Analysis. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 26 37992966
2018 Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation. Journal of neurodevelopmental disorders 24 29788902
2020 Knockout of ACTB and ACTG1 with CRISPR/Cas9(D10A) Technique Shows that Non-Muscle β and γ Actin Are Not Equal in Relation to Human Melanoma Cells' Motility and Focal Adhesion Formation. International journal of molecular sciences 23 32326615
2011 Gene targeting and subsequent site-specific transgenesis at the β-actin (ACTB) locus in common marmoset embryonic stem cells. Stem cells and development 20 21126169
2020 Whole blood ACTB, B2M and GAPDH expression reflects activity of inflammatory bowel disease, advancement of colorectal cancer, and correlates with circulating inflammatory and angiogenic factors: Relevance for real-time quantitative PCR. Advances in clinical and experimental medicine : official organ Wroclaw Medical University 19 32424999
2019 The ACTB Variants and Alcohol Drinking Confer Joint Effect to Ischemic Stroke in Chinese Han Population. Journal of atherosclerosis and thrombosis 19 31327802
2018 Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. Birth defects research 18 29388391
2017 Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. Case reports in genetics 18 28487785
2022 The association between ACTB methylation in peripheral blood and coronary heart disease in a case-control study. Frontiers in cardiovascular medicine 17 36061541
2012 A network-based maximum link approach towards MS identifies potentially important roles for undetected ARRB1/2 and ACTB in liver cancer progression. International journal of bioinformatics research and applications 16 22961449
2022 Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics. European journal of cell biology 15 35313204
2017 Identification of a chicken (Gallus gallus) endogenous reference gene (Actb) and its application in meat adulteration. Food chemistry 15 28551263
2012 Segmental duplications in genome-wide significant loci and housekeeping genes; warning for GAPDH and ACTB. Neurobiology of aging 15 23238109
2020 An Unbalanced Chromosome Translocation Between 7p22 and 12q13 Leads to ACTB-GLI1 Fusion in Pericytoma. Anticancer research 14 32132020
2019 Mutant ACTB mRNA 3'-UTR promotes hepatocellular carcinoma development by regulating miR-1 and miR-29a. Cellular signalling 13 31846694
2018 Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review. Molecular syndromology 13 30733661
2021 Novel serum autoantibodies against ß-actin (ACTB) in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration 12 33792444
2021 ACTB Methylation in Blood as a Potential Marker for the Pre-clinical Detection of Stroke: A Prospective Nested Case-Control Study. Frontiers in neuroscience 12 34054407
2021 Primary cutaneous epithelioid mesenchymal neoplasm with ACTB-GLI1 fusion: a case report. Journal of cutaneous pathology 12 34643288
2020 Further delineation of putative ACTB loss-of-function variants: A 4-patient series. Human mutation 12 31898838
2016 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly. European journal of medical genetics 11 27633570
2023 Characterizing the oncogenic importance and exploring gene-immune cells correlation of ACTB in human cancers. American journal of cancer research 10 37034229
2022 lncRNA ADAMTS9-AS1/circFN1 Competitively Binds to miR-206 to Elevate the Expression of ACTB, Thus Inducing Hypertrophic Cardiomyopathy. Oxidative medicine and cellular longevity 10 35401927
2024 Fusion-driven cutaneous and superficial mesenchymal and adnexal tumors-A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2-rearranged adnexal carcinoma. Journal of cutaneous pathology 9 38556256
2022 Expression stability of ACTB, 18S, and GAPDH in human placental tissues from subjects with PCOS and controls: GAPDH expression is increased in PCOS. Hormones (Athens, Greece) 9 35438455
2020 Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas. Journal of cutaneous pathology 9 32170967
2019 ACTB Variants Confer the Genetic Susceptibility to Diabetic Kidney Disease in a Han Chinese Population. Frontiers in genetics 9 31396261
2014 Determining ACTB, ATP5B and RPL32 as optimal reference genes for quantitative RT-PCR studies of cryopreserved stallion semen. Animal reproduction science 9 25192831
2024 Gastroblastoma with a novel ACTB::GLI1 gene fusion in a 19-year-old male. Virchows Archiv : an international journal of pathology 7 38260988
2022 Malignant epithelioid neoplasm of the ileum with ACTB-GLI1 fusion mimicking an adnexal mass. BMC women's health 7 35387638
2022 ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome. Parkinsonism & related disorders 7 36183459
1996 FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. Cytogenetics and cell genetics 7 8941379
2021 A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia. American journal of medical genetics. Part A 6 34970864
2025 De Novo ACTB Variant Associated With Juvenile-Onset Temporal Lobe Epilepsy With Favorable Outcomes. Human mutation 5 40677923
2024 Discovery of Novel TULP4/ACTN4/EWSR1/ACTB::MYB and ESRRG::DNM3 Fusions Expands Molecular Landscape of Adenoid Cystic Carcinoma Beyond Fusions Between MYB/MYBL1 and NFIB Genes. The American journal of surgical pathology 5 39235305
2020 Identification of ACTB Gene as a Potential Safe Harbor Locus in Pig Genome. Molecular biotechnology 5 32979185
2015 Quantification of DNA in urinary porcine bladder matrix using the ACTB gene. In vitro cellular & developmental biology. Animal 5 26091631
2024 Prime-Editing of human ACTB in induced pluripotent stem cells to model human ACTB Loss-of-Function diseases and compensatory mechanisms. Stem cell research 4 38217996
2022 Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser-Winter Cerebrofrontofacial Syndrome. Frontiers in genetics 4 35401677
2021 [Hypoxia Accelerate β-Actin Expression through Transcriptional Activation of ACTB by Nuclear Respiratory Factor-1]. Molekuliarnaia biologiia 4 34097680
2021 ACTB and GAPDH appear at multiple SDS-PAGE positions, thus not suitable as reference genes for determining protein loading in techniques like Western blotting. Open life sciences 4 34966852
2020 The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review. Annals of clinical and laboratory science 4 33334799
2024 CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses. Stem cell research 3 38518401
2021 ACTB Mutations Analysis and Genotype-Phenotype Correlation in Becker's Nevus. Biomedicines 3 34944694
2024 Exploring heterogeneous expression of beta-actin (ACTB) in bladder cancer by producing a monoclonal antibody 6D6. BMC urology 2 38867273
2025 biGMamAct: efficient CRISPR/Cas9-mediated docking of large functional DNA cargoes at the ACTB locus. Synthetic biology (Oxford, England) 1 40065842
2025 Generation of beta actin reporter line (BJNhem20 ACTB-eGFP) in human embryonic stem cells BJNhem20 using CRISPR-Cas9 gene targeting. Stem cell research 1 40749620
2024 Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB. Human molecular genetics 1 39271101
2024 Derivation of induced pluripotent stem cell from a Baraitser-Winter Cerebrofrontofacial syndrome with ACTB mutation. Stem cell research 1 39437565
2023 Integrated proteome and malonylome analyses reveal the potential meaning of TLN1 and ACTB in end-stage renal disease. Proteome science 1 37833721
2023 ACTB may serve as a predictive marker for the efficacy of lenvatinib in patients with HBV-related early-stage hepatocellular carcinoma following partial hepatectomy: a retrospective cohort study. Journal of gastrointestinal oncology 1 38196518
2009 [Green fluorescent protein has no effect on blastocyst development in C57BL/6-Tg(ACTB-EGFP)1Osb/J mice]. Ontogenez 1 19894611
2026 Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies. American journal of human genetics 0 41529692
2026 Novel Identical Likely Pathogenic ACTB Variant in Congenital Smooth Muscle Hamartoma: A Report of Two Pediatric Cases. Pediatric dermatology 0 41669896
2026 Bioinformatics and machine learning integration reveals a novel 4-gene (GFUS, ARHGAP8, NBL1, and ACTB) biomarker model for prostate cancer. Discover oncology 0 41721923
2026 Multiomics and experimental validation reveal theophylline's mechanism targeting IL1A/ACTB/TLR4 and identify synergistic drugs in hepatocellular carcinoma. The Journal of pharmacology and experimental therapeutics 0 41763175
2026 ACTB methylation regulates SMARCA4 genomic occupancy to promote translation and reduce adhesion in colorectal cancer cells. Genome research 0 41881543
2026 Pleural-Based GLI1-Altered Mesenchymal Tumor With ACTB-GLI1 Fusion: A Rare Pulmonary Entity Mimicking Synovial Sarcoma. Thoracic cancer 0 41888999
2026 A Novel ACTB Truncating Variant in a Neonate with ACTB-Related Neurodevelopmental Disorder with Features Overlapping Baraitser-Winter Cerebrofrontofacial Syndrome Diagnosed Using Whole Genome Sequencing: A Case Report. Annals of clinical and laboratory science 0 41927119
2026 ECE1c promotes glioblastoma invasion via the ROCK2-MYH10 axis and interaction with ACTB. American journal of translational research 0 42007117
2025 Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors. Genes, chromosomes & cancer 0 40346937
2025 5,7,2',6'- Tetrahydroxyflavone affects the progression of ovarian cancer via hsa-miR-495-3p-ACTB/HSP90AA1 pathway. Discover oncology 0 40389695
2025 Time Since Death Estimation via mRNA Expression of GAPDH and ACTB in Human Skeletal Muscle. Clinical anatomy (New York, N.Y.) 0 40910873
2025 ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature. Journal of medical genetics 0 41062261
2025 7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings. Cureus 0 41141068
2025 ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited. Clinical parkinsonism & related disorders 0 41334474
2025 Genetic and immunohistochemical studies identify recurrent ACTB mutations and PTEN alterations in tubular adenomas of the breast. Histopathology 0 41456879
2024 GLI1-Altered Mesenchymal Tumor with ACTB Fusion and Somatostatin Receptor 2A (SSTR2A) Immunopositivity. Cureus 0 39720383
2024 Missense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability. Molecular syndromology 0 40771191