ACTB (Actin, beta)
2005-03-01 Anna Dahlén , Fredrik Mertens , Nils Mandahl , Ioannis Panagopoulos AffiliationDepartment of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden
DNA/RNA
Genomic organization of the ACTB gene.
Description
Six exons, spans approximately 3.4 kb of genomic DNA in the centromere-to-telomere orientation. The translation initiation codon ATG is located in exon 2, and the stop codon in exon 6.
Transcription
mRNA of approximately 1.8 kb.
Pseudogene
At least 19 processed, non-expressed, pseudogenes are dispersed throughout the genome.
Proteins
Description
The open reading frame encodes a 374 amino acid protein, with an estimated molecular weight of approximately 41.7 kDa.
Expression
Abundantly expressed in all mammalian and avian non-muscle cells.
Localisation
Cytoplasm
Function
Component (together with cytoplasmic g actin) of the cytoskeletal microfilaments. Involved in the transport of chromosomes and organelles as well as in cell motility.
Homology
The ACTB proteins are evolutionary conserved. Mammalian cytoplasmic actins (actin g and b) are remarkably similar to each other, but differ in at least 25 residues from the muscle actins.
Mutations
Somatic
ACTB is interrupted by the t(7;12)(p22;q13) detected in pericytoma with t(7;12).
Implicated in
Disease
Prognosis
Benign or low-malignant
Cytogenetics
t(7;12)(p22;q13)
Hybrid gene
ACTB-GLI1 fusion gene. The breakpoints reported so far have been located to introns 1, 2 or 3 within the ACTB gene, and to introns 5 or 6 or to exon 7 within the GLI1 gene. Reciprocal GLI1-ACTB gene fusions have also been detected. The breakpoints have been located to introns 5 or 7 within the GLI1 gene, and to intron 3 of the ACTB gene.
Representative G-banded partial karyotype of the t(7;12)(p22;q13).
Fusion protein
The ACTB-GLI1 fusion protein contains the N-terminal of ACTB and the C-terminal of GLI1, including the DNA-binding zink finger motifs (encoded by exons 7-10) and transactivating motifs (exon 12).
Oncogenesis
It is suggested that the strong ACTB promoter causes an overexpression of GLI1 sequences important for transcriptional activation of downstream target genes, akin to the oncogenic mechanisms of the COL1A1-PDGFB fusion gene detected in dermatofibrosarcoma protuberans.
Breakpoints
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15555571 | 2004 | Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12). | Dahlén A et al |
| 3842206 | 1985 | The human beta-actin multigene family. | Kedes L et al |
| 2994062 | 1985 | Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns. | Nakajima-Iijima S et al |
| 3837182 | 1985 | Evolution of the functional human beta-actin gene and its multi-pseudogene family: conservation of noncoding regions and chromosomal dispersion of pseudogenes. | Ng SY et al |
| 8988177 | 1997 | Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. | Simon MP et al |
| 8941379 | 1996 | FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. | Ueyama H et al |
| 274701 | 1978 | Mammalian cytoplasmic actins are the products of at least two genes and differ in primary structure in at least 25 identified positions from skeletal muscle actins. | Vandekerckhove J et al |
Other Information
Locus ID:
NCBI: 60
MIM: 102630
HGNC: 132
Ensembl: ENSG00000075624
Variants:
dbSNP: 60
ClinVar: 60
TCGA: ENSG00000075624
COSMIC: ACTB
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38518401 | 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. | 0 |
| 38518401 | 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. | 0 |
| 36564926 | 2023 | The identification of giant platelets with disorganized granules can suggest ACTB gene mutation. | 0 |
| 36564926 | 2023 | The identification of giant platelets with disorganized granules can suggest ACTB gene mutation. | 0 |
| 35313204 | 2022 | Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics. | 1 |
| 35401927 | 2022 | lncRNA ADAMTS9-AS1/circFN1 Competitively Binds to miR-206 to Elevate the Expression of ACTB, Thus Inducing Hypertrophic Cardiomyopathy. | 1 |
| 35313204 | 2022 | Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics. | 1 |
| 35401927 | 2022 | lncRNA ADAMTS9-AS1/circFN1 Competitively Binds to miR-206 to Elevate the Expression of ACTB, Thus Inducing Hypertrophic Cardiomyopathy. | 1 |
| 32683844 | 2021 | Associations of ACTB and DIAPH1 gene polymorphisms with myocardial infarction. | 0 |
| 34486492 | 2021 | A pan-cancer analysis of the prognostic and immunological role of β-actin (ACTB) in human cancers. | 29 |
| 34681026 | 2021 | Identification of Novel Endogenous Controls for qPCR Normalization in SK-BR-3 Breast Cancer Cell Line. | 1 |
| 32683844 | 2021 | Associations of ACTB and DIAPH1 gene polymorphisms with myocardial infarction. | 0 |
| 34486492 | 2021 | A pan-cancer analysis of the prognostic and immunological role of β-actin (ACTB) in human cancers. | 29 |
| 34681026 | 2021 | Identification of Novel Endogenous Controls for qPCR Normalization in SK-BR-3 Breast Cancer Cell Line. | 1 |
| 31327802 | 2020 | The ACTB Variants and Alcohol Drinking Confer Joint Effect to Ischemic Stroke in Chinese Han Population. | 7 |
Citation
Anna Dahlén ; Fredrik Mertens ; Nils Mandahl ; Ioannis Panagopoulos
ACTB (Actin, beta)
Atlas Genet Cytogenet Oncol Haematol. 2005-03-01
Online version: http://atlasgeneticsoncology.org/gene/42959/actb
