ACTB (Actin, beta)

2005-03-01   Anna Dahlén , Fredrik Mertens , Nils Mandahl , Ioannis Panagopoulos 

Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden

Identity

HGNC
LOCATION
7p22.1
LOCUSID
ALIAS
BRWS1,PS1TP5BP1
FUSION GENES

DNA/RNA

Atlas Image
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

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.
Atlas Image
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

Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors
155555712004Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12).Dahlén A et al
38422061985The human beta-actin multigene family.Kedes L et al
29940621985Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns.Nakajima-Iijima S et al
38371821985Evolution 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
89881771997Deregulation 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
89413791996FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.Ueyama H et al
2747011978Mammalian 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

Gene IDTranscript IDUniprot
ENSG00000075624ENST00000414620C9JTX5
ENSG00000075624ENST00000417101C9JUM1
ENSG00000075624ENST00000425660G5E9R0
ENSG00000075624ENST00000432588E7EVS6
ENSG00000075624ENST00000443528C9JZR7
ENSG00000075624ENST00000464611A0A2R8YFE2
ENSG00000075624ENST00000493945P60709
ENSG00000075624ENST00000493945Q1KLZ0
ENSG00000075624ENST00000642480A0A2R8YGF8
ENSG00000075624ENST00000645576A0A2R8Y793
ENSG00000075624ENST00000646664P60709
ENSG00000075624ENST00000646664Q1KLZ0
ENSG00000075624ENST00000647275A0A2R8YEA7

Expression (GTEx)

0
5000
10000
15000

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
Focal adhesionKEGGko04510
Adherens junctionKEGGko04520
Tight junctionKEGGko04530
Leukocyte transendothelial migrationKEGGko04670
Regulation of actin cytoskeletonKEGGko04810
Vibrio cholerae infectionKEGGko05110
Pathogenic Escherichia coli infectionKEGGko05130
ApoptosisKEGGhsa04210
Focal adhesionKEGGhsa04510
Adherens junctionKEGGhsa04520
Tight junctionKEGGhsa04530
Leukocyte transendothelial migrationKEGGhsa04670
Regulation of actin cytoskeletonKEGGhsa04810
Vibrio cholerae infectionKEGGhsa05110
Pathogenic Escherichia coli infectionKEGGhsa05130
ShigellosisKEGGhsa05131
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Viral myocarditisKEGGhsa05416
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Influenza AKEGGko05164
Influenza AKEGGhsa05164
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Thyroid hormone signaling pathwayKEGGhsa04919
Platelet activationKEGGhsa04611
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Cooperation of Prefoldin and TriC/CCT in actin and tubulin foldingREACTOMER-HSA-389958
Prefoldin mediated transfer of substrate to CCT/TriCREACTOMER-HSA-389957
Folding of actin by CCT/TriCREACTOMER-HSA-390450
Post-translational protein modificationREACTOMER-HSA-597592
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate WASPs and WAVEsREACTOMER-HSA-5663213
RHO GTPases Activate ForminsREACTOMER-HSA-5663220
Gene ExpressionREACTOMER-HSA-74160
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPHB-mediated forward signalingREACTOMER-HSA-3928662
DNA RepairREACTOMER-HSA-73894
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847
Nucleotide Excision RepairREACTOMER-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
DNA Damage Recognition in GG-NERREACTOMER-HSA-5696394
Positive epigenetic regulation of rRNA expressionREACTOMER-HSA-5250913
B-WICH complex positively regulates rRNA expressionREACTOMER-HSA-5250924
DeubiquitinationREACTOMER-HSA-5688426
UCH proteinasesREACTOMER-HSA-5689603
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
223667832012De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.78
196384152009Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity.76
223236062012Active maintenance of nuclear actin by importin 9 supports transcription.76
155745862004A role for beta-actin in RNA polymerase III transcription.72
175484722007The RNA-binding protein HuR promotes cell migration and cell invasion by stabilizing the beta-actin mRNA in a U-rich-element-dependent manner.57
234477062013Visualization of actin filaments and monomers in somatic cell nuclei.57
210451472010The mitotic kinase Aurora-A induces mammary cell migration and breast cancer metastasis by activating the Cofilin-F-actin pathway.53
211728222011Depletion of nuclear actin is a key mediator of quiescence in epithelial cells.49
226237272012Cofilin nuclear-cytoplasmic shuttling affects cofilin-actin rod formation during stress.41
166856462006A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.38

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-(actin-beta)