Affinage

ACTB

Actin, cytoplasmic 1 · UniProt P60709

Length
375 aa
Mass
41.7 kDa
Annotated
2026-06-09
88 papers in source corpus 14 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ACTB encodes cytoplasmic β-actin, a cytoskeletal protein whose polymerization dynamics underlie neuronal migration, cell adhesion, proliferation, and migration (PMID:22366783, PMID:29220674). Its assembly behavior depends on interaction with profilin-1, which mutations in the actin C-terminus disrupt by lowering nucleation and polymerization rates and profilin affinity, with allosteric consequences for thermal stability, DNase-I binding, and nucleotide exchange (PMID:35313204). Disease-associated missense variants act through dysregulated polymerization/depolymerization dynamics: distinct variants impair localization to epithelial junctions and profilin-1 binding, producing aberrant adhesion and migration (PMID:39271101), and they behave as dominant defects over wild-type actin (PMID:34970864). β-actin functions both in the cytoplasm and in the nucleus, where its levels and activity are selectively reduced by loss-of-function mutations (PMID:29220674); the protein is also subject to SETD3-mediated H73 methylation that governs its genomic distribution and enables SMARCA4 (SWI/SNF BAF) colocalization to regulate transcription of adhesion and translation genes (PMID:41881543). De novo missense mutations in ACTB cause Baraitser-Winter syndrome, a neuronal migration disorder, whereas loss-of-function mutations produce a distinct pleiotropic developmental disorder (PMID:22366783, PMID:29220674). β-actin protein is dispensable for general cellular function but specifically required to maintain auditory stereocilia integrity, distinguishing it functionally from γ-actin (PMID:30012594, PMID:32326615). ACTB also acts oncogenically as a promoter donor: the t(7;12) ACTB-GLI fusion places GLI under the ubiquitous ACTB promoter, deregulating GLI expression and activating sonic hedgehog signaling (PMID:15111311, PMID:15555571).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2004 High

    Established that ACTB can drive oncogenesis non-cytoskeletally, as a promoter-donating fusion partner rather than through its actin function.

    Evidence Cytogenetics, RT-PCR, and genomic breakpoint analysis of t(7;12) tumors with ACTB-GLI fusions

    PMID:15111311 PMID:15555571

    Open questions at the time
    • Does not address whether the chimeric ACTB-GLI protein retains any actin-like property
    • Tumor-type specificity of the fusion not defined
  2. 2012 High

    Linked ACTB to human disease for the first time, showing cytoplasmic β-actin is required for normal neuronal migration and cortical development.

    Evidence Whole-exome trio sequencing identifying recurrent de novo missense mutations in Baraitser-Winter syndrome

    PMID:22366783

    Open questions at the time
    • Genetic association did not define the molecular consequence of mutations on actin behavior
    • Cell-type basis of the migration defect not resolved
  3. 2013 Medium

    Provided first functional evidence that disease variants impair actin behavior, connecting genotype to a biochemical defect.

    Evidence In vitro polymer formation and cell adhesion assays of the p.E117K variant

    PMID:23649928

    Open questions at the time
    • Single variant in a single lab
    • Did not identify the binding partners affected
  4. 2017 High

    Distinguished loss-of-function from gain-of-function disease and revealed a selective requirement for nuclear β-actin.

    Evidence siRNA knockdown, patient fibroblasts, subcellular fractionation, and proliferation/migration assays

    PMID:29220674

    Open questions at the time
    • Mechanism by which nuclear but not cytoplasmic β-actin is selectively reduced unexplained
    • Nuclear actin's molecular targets not identified
  5. 2018 High

    Disentangled the β-actin protein from the ACTB locus, showing the protein sequence itself is dispensable except for stereocilia maintenance.

    Evidence CRISPR knock-in mouse translating γ-actin from the Actb locus, with audiology and stereocilia morphology

    PMID:30012594

    Open questions at the time
    • Does not address roles encoded by ACTB regulatory/nucleotide sequence rather than protein
    • Molecular basis of stereocilia-specific requirement unknown
  6. 2020 Medium

    Defined non-redundant roles for β- versus γ-actin in adhesion and motility, refining which cellular processes depend specifically on ACTB.

    Evidence CRISPR/Cas9(D10A) knockout of ACTB and ACTG1 in melanoma cells with migration, invasion, and focal adhesion readouts

    PMID:32326615

    Open questions at the time
    • Single cell line and single lab
    • Molecular basis of isoform-specific focal adhesion effects not defined
  7. 2021 Medium

    Identified upstream transcriptional control of ACTB, showing NRF-1 directly activates β-actin expression under hypoxia.

    Evidence ChIP, NRF-1 gain/loss-of-function, and β-actin protein measurement in gastric cancer and normal cells

    PMID:34097680

    Open questions at the time
    • Single lab with limited orthogonal validation
    • Physiological role of hypoxic β-actin induction unclear
  8. 2021 Medium

    Demonstrated dominance of a disease variant over wild-type actin in vivo, supporting a dominant-functional disease mechanism.

    Evidence Yeast pseudoheterozygote expressing yACT1-S348L with temperature-dependent growth assays

    PMID:34970864

    Open questions at the time
    • Single method in a yeast surrogate
    • Does not define the affected molecular interaction
  9. 2022 High

    Pinpointed disrupted actin-profilin interaction as a disease mechanism through reconstituted biochemistry.

    Evidence Recombinant mutant β-actin assembly, profilin-1 affinity, DNase-I binding, thermal stability, and nucleotide exchange assays for p.S368fs

    PMID:35313204

    Open questions at the time
    • Biochemistry for one frameshift variant
    • Link from profilin defect to thrombocytopenia phenotype not directly tested
  10. 2024 Medium

    Connected the profilin-binding/junction-localization defect to a tissue phenotype, explaining orofacial clefting in Baraitser-Winter syndrome.

    Evidence Patient-derived MDCK lines and Xenopus embryos with junction localization and profilin-1 binding assays for p.S348L

    PMID:39271101

    Open questions at the time
    • Single lab and single variant
    • Whether other variants share this junction-localization defect untested here
  11. 2026 High

    Revealed a chromatin function for β-actin in which SETD3-mediated H73 methylation directs its genomic distribution and partners it with SMARCA4 to regulate transcription.

    Evidence Proteomics, ChIP-seq of SMARCA4 and H73-methylated ACTB, SETD3 knockout, and adhesion/translation phenotypes in colorectal cancer cells

    PMID:41881543

    Open questions at the time
    • How H73 methylation mechanistically recruits SMARCA4 not resolved
    • Generality beyond colorectal cancer cells untested
  12. 2026 Medium

    Implicated β-actin in a tumor-invasion signaling axis through interaction with ECE1c and ROCK2 activation.

    Evidence Reciprocal co-IP, knockdown/overexpression, pseudopodia and invasion assays, and xenograft models in glioblastoma

    PMID:42007117

    Open questions at the time
    • Single lab
    • Direct biochemical mode of the ACTB-ECE1c interaction not mapped

Open questions

Synthesis pass · forward-looking unresolved questions
  • How allele-specific actin polymerization defects translate into the divergent neuronal-migration, adhesion, and tissue phenotypes across the ACTB variant spectrum remains unresolved.
  • No unifying model linking variant biophysics to organ-specific outcomes
  • Nuclear versus cytoplasmic contributions to each phenotype not separated
  • Preprint-stage iPSC, mouse, and C. elegans variant models await peer review

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0008092 cytoskeletal protein binding 2 GO:0003677 DNA binding 1
Localization
GO:0005634 nucleus 2 GO:0005856 cytoskeleton 2 GO:0005829 cytosol 1
Pathway
GO:0140110 transcription regulator activity 2
Partners
ECE1NRF1PFN1SETD3SMARCA4
Complex memberships
SWI/SNF (BAF) complex (via H73-methylated ACTB-SMARCA4 colocalization)

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2012 De novo missense mutations in ACTB cause Baraitser-Winter syndrome, a neuronal migration disorder with craniofacial features and ocular colobomata, establishing that cytoplasmic β-actin is required for normal neuronal migration and cortical development. Whole-exome sequencing of proband-parent trios followed by Sanger sequencing of additional affected individuals Nature genetics High 22366783
2013 A de novo ACTB p.E117K missense variant alters cell adhesion and actin polymer formation, demonstrating that disease-associated ACTB mutations functionally impair actin polymerization dynamics. Exome sequencing to identify variant, followed by in vitro functional characterization of mutant actin including polymer formation assays and cell adhesion assays Human mutation Medium 23649928
2017 Heterozygous ACTB loss-of-function mutations cause reduced cell proliferation, altered cell shape and migration, and decreased nuclear (but not cytoplasmic) β-actin levels, demonstrating that ACTB is required for normal cell proliferation, migration, and nuclear actin function. ACTB siRNA knockdown in wild-type fibroblasts and analysis of fibroblasts from affected individuals; cell shape, migration, and proliferation assays; subcellular fractionation to measure nuclear vs. cytoplasmic β-actin American journal of human genetics High 29220674
2018 β-actin protein per se is not required for general cellular functions, but is specifically necessary to maintain auditory stereocilia integrity, as mice with the Actb locus gene-edited to produce only γ-actin protein are viable but develop progressive high-frequency hearing loss and stereocilia degeneration. CRISPR gene editing of endogenous mouse Actb locus to translate γ-actin protein (knock-in); audiological testing and stereocilia morphology analysis Proceedings of the National Academy of Sciences of the United States of America High 30012594
2022 The ACTB p.S368fs frameshift mutation causes a C-terminal alteration that markedly reduces actin nucleation and polymerization rates and lowers affinity for profilin-1, with allosteric effects including reduced thermal stability, altered DNase-I binding, and changed nucleotide exchange kinetics, implicating disrupted actin-profilin interaction as the disease mechanism in ACTB-associated syndromic thrombocytopenia. Recombinant production of mutant β-actin; in vitro spontaneous actin assembly assays; profilin-1 affinity measurements; DNase-I inhibition assay; thermal denaturation; nucleotide exchange kinetics European journal of cell biology High 35313204
2020 CRISPR/Cas9-mediated knockout of ACTB in human melanoma cells shows that β-actin and γ-actin play distinct roles: ACTB knockout alters focal adhesion (FA) formation and FA-dependent signaling, while ACTG1 knockout more severely impairs cell migration, invasion, and lamellipodia formation, and increases bundled stress fibers. CRISPR/Cas9(D10A)-mediated gene inactivation; migration and invasion assays; FA formation and signaling analysis; actin isoform distribution by immunofluorescence International journal of molecular sciences Medium 32326615
2004 A chromosomal translocation t(7;12) fuses the 5'-portion of ACTB (including its promoter) to the 3'-portion of GLI, placing GLI under the control of the ubiquitously expressed ACTB promoter and causing deregulated GLI expression and activation of the sonic hedgehog pathway. Cytogenetics, RT-PCR, molecular genetic analysis of genomic breakpoints, electron microscopy of tumor phenotype The American journal of pathology High 15111311
2004 The ACTB-GLI fusion at the genomic level results from juxtaposition of intronic or exonic sequences (with one case showing a micro-inversion at the junction) without large repeats, and the fusions are molecularly unbalanced; the first 41 amino acids of ACTB replace the first 177 amino acids of GLI1 in the putative fusion protein. RT-PCR, Sanger sequencing of genomic breakpoints, bioinformatic analysis of recombination sequences Biochemical and biophysical research communications Medium 15555571
2021 Functional analysis in a haploid S. cerevisiae pseudoheterozygote model demonstrates that the ACTB p.Ser348Leu variant causes a dominant growth defect at 22°C but not 30°C, consistent with the mutation having a dominant functional defect over wild-type actin. Yeast pseudoheterozygote model expressing yACT1-S348L alongside wild-type; growth assay at different temperatures American journal of medical genetics. Part A Medium 34970864
2024 The ACTB p.S348L variant impairs the ability of mutant β-actin to localize to epithelial junctions and to bind PROFILIN1, compromising actin polymerization and causing aberrant epithelial cell adhesion and migration, which underlies the orofacial cleft phenotype in Baraitser-Winter syndrome. Patient-derived MDCK cell line models and Xenopus laevis embryo functional assays; junction localization imaging; profilin-1 binding assays Human molecular genetics Medium 39271101
2021 Nuclear respiratory factor-1 (NRF-1) directly binds to the coding region of the ACTB gene and transcriptionally activates β-actin expression under hypoxic conditions, as NRF-1 levels and β-actin levels change concordantly with NRF-1 overexpression or silencing. ChIP experiments demonstrating NRF-1 binding to ACTB/Actb coding regions; NRF-1 overexpression and knockdown with β-actin protein level measurement; hypoxia treatment of gastric cancer and normal cells Molekuliarnaia biologiia Medium 34097680
2026 SETD3-mediated methylation of ACTB at H73 is required for ACTB's genomic distribution, and this modification enables colocalization of SMARCA4 (a SWI/SNF BAF complex subunit) with H73-methylated ACTB at specific loci, thereby regulating transcription of genes involved in cell adhesion and mRNA translation in colorectal cancer cells. Proteomic analysis of ACTB/SETD3-interacting complexes; ChIP-seq for SMARCA4 and H73-methylated ACTB; SETD3 knockout/knockdown; cell adhesion and translation phenotypic assays Genome research High 41881543
2026 ECE1c interacts with ACTB (demonstrated by co-immunoprecipitation) and activates the ROCK2 signaling pathway, together modulating cytoskeletal remodeling and promoting pseudopodia formation to increase glioblastoma cell invasiveness. Co-immunoprecipitation; immunofluorescence; Western blot; knockdown and overexpression experiments; tumor xenograft models American journal of translational research Medium 42007117
1996 FISH mapping localized the human β-cytoplasmic actin gene ACTB to chromosome 7p22, and identified and mapped related processed pseudogenes to other chromosomes (18, 15, 6). Fluorescence in situ hybridization (FISH); PCR of somatic cell hybrid DNAs Cytogenetics and cell genetics Medium 8941379
2024 Subsets of disease-causing ACTB missense variants cause dramatically dysregulated actin polymerization and depolymerization dynamics, and in iPSC-derived neuronal models these variants lead to neuronal migration defects, while ACTB nonsense/frameshift variants that cause rapid protein degradation result in milder phenotypes; heterozygous Actb knockout in mice causes altered neuronal cell morphology and abnormal expression of actin-related genes in newborn brains. Clinical genomics of 290 patients; iPSC-derived neuronal migration assays; actin polymerization/depolymerization dynamics; heterozygous Actb knockout mouse brain analysis bioRxivpreprint Medium
2024 Nine ACTB patient-associated missense mutations introduced into C. elegans act-2 (cytoplasmic actin orthologue) reveal a range of defects at the actin network, cell, morphogenesis, and behavioral levels, with severity correlating with clinical severity of patients' symptoms, establishing that these variants cause pathological actin dynamics. CRISPR insertion of patient mutations into C. elegans act-2; multiscale phenotypic characterization including actin network imaging, cell morphology, embryo morphogenesis, and behavioral assays bioRxivpreprint Medium

Source papers

Stage 0 corpus · 88 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature genetics 234 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 145 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 139 15111311
2017 ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. American journal of human genetics 97 29220674
2018 Expanding the Spectrum of Genetic Alterations in Pseudomyogenic Hemangioendothelioma With Recurrent Novel ACTB-FOSB Gene Fusions. The American journal of surgical pathology 81 30256258
2012 Pseudogenes as weaknesses of ACTB (Actb) and GAPDH (Gapdh) used as reference genes in reverse transcription and polymerase chain reactions. PloS one 81 22927912
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 51 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 46 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 41 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
2013 Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. Human mutation 31 23649928
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
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
2020 Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas. Journal of cutaneous pathology 10 32170967
2024 Gastroblastoma with a novel ACTB::GLI1 gene fusion in a 19-year-old male. Virchows Archiv : an international journal of pathology 9 38260988
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
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
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
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 7 34970864
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
2025 De Novo ACTB Variant Associated With Juvenile-Onset Temporal Lobe Epilepsy With Favorable Outcomes. Human mutation 6 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 6 39235305
2022 Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser-Winter Cerebrofrontofacial Syndrome. Frontiers in genetics 6 35401677
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 5 38217996
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
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
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 3 41763175
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
2024 Exploring heterogeneous expression of beta-actin (ACTB) in bladder cancer by producing a monoclonal antibody 6D6. BMC urology 3 38867273
2021 ACTB Mutations Analysis and Genotype-Phenotype Correlation in Becker's Nevus. Biomedicines 3 34944694
2026 Bioinformatics and machine learning integration reveals a novel 4-gene (GFUS, ARHGAP8, NBL1, and ACTB) biomarker model for prostate cancer. Discover oncology 1 41721923
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 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
2026 [Clinical characteristics and genetic analysis of three fetuses with Baraitser-Winter cerebrofrontofacial syndrome and Dystonia-deafness syndrome type 1 due to variants of ACTB gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 42087738
2026 Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes. EBioMedicine 0 42107907
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

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