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ACTB (Actin, beta)

Written2005-03Anna Dahlén, Fredrik Mertens, Nils Mandahl, Ioannis Panagopoulos
Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) ACTB
LocusID (NCBI) 60
Atlas_Id 42959
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at 5566779 and ends at 5570232 bp from pter ( according to hg19-Feb_2009)  [Mapping ACTB.png]
Fusion genes
(updated 2016)
ACO2 (22q13.2) / ACTB (7p22.1)ACTB (7p22.1) / ACO2 (22q13.2)ACTB (7p22.1) / ACTB (7p22.1)
ACTB (7p22.1) / AGAP1 (2q37.2)ACTB (7p22.1) / BSG (19p13.3)ACTB (7p22.1) / CBX5 (12q13.13)
ACTB (7p22.1) / FMN1 (15q13.3)ACTB (7p22.1) / GLI1 (12q13.3)ACTB (7p22.1) / GNAS (20q13.32)
ACTB (7p22.1) / HERPUD2 (7p14.2)ACTB (7p22.1) / HIPK2 (7q34)ACTB (7p22.1) / IGHG1 (14q32.33)
ACTB (7p22.1) / ISY1-RAB43 (3q21.3)ACTB (7p22.1) / LENG8 (19q13.42)ACTB (7p22.1) / LOC100507412 (-)
ACTB (7p22.1) / NOL4L (20q11.21)ACTB (7p22.1) / OSBPL3 (7p15.3)ACTB (7p22.1) / P4HB (17q25.3)
ACTB (7p22.1) / RELA (11q13.1)ACTB (7p22.1) / RPS16 (19q13.2)ACTB (7p22.1) / SQSTM1 (5q35.3)
ACTB (7p22.1) / SUPV3L1 (10q22.1)ACTB (7p22.1) / THBS3 (1q22)ACTB (7p22.1) / UBA1 (Xp11.23)
APOL1 (22q12.3) / ACTB (7p22.1)DLG4 (17p13.1) / ACTB (7p22.1)GLI1 (12q13.3) / ACTB (7p22.1)
H1F0 (22q13.1) / ACTB (7p22.1)JPH3 (16q24.2) / ACTB (7p22.1)LOC100507412 (-) / ACTB (7p22.1)
MAOA (Xp11.3) / ACTB (7p22.1)NDUFS6 (5p15.33) / ACTB (7p22.1)OGT (Xq13.1) / ACTB (7p22.1)
PITPNA (17p13.3) / ACTB (7p22.1)SLC34A2 (4p15.2) / ACTB (7p22.1)SNHG1 (11q12.3) / ACTB (7p22.1)
SPTLC2 (14q24.3) / ACTB (7p22.1)TSNARE1 (8q24.3) / ACTB (7p22.1)VAMP2 (17p13.1) / ACTB (7p22.1)
Note Six actin isoforms are known: two sarcomeric (a-skeletal and a-cardiac), two smooth muscle actins (a and g), and two non-muscle, cytoskeletal actins (b and g).

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.

Protein

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

Note
Disease Pericytoma with t(7;12)
Prognosis Benign or low-malignant
Cytogenetics t(7;12)(p22;q13)
Hybrid/Mutated 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).
Abnormal 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

 

Bibliography

Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12).
Dahlén A, Mertens F, Mandahl N, Panagopoulos I
Biochemical and biophysical research communications. 2004 ; 325 (4) : 1318-1323.
PMID 15555571
 
The human beta-actin multigene family.
Kedes L, Ng SY, Lin CS, Gunning P, Eddy R, Shows T, Leavitt J
Transactions of the Association of American Physicians. 1985 ; 98 : 42-46.
PMID 3842206
 
Molecular structure of the human cytoplasmic beta-actin gene: interspecies homology of sequences in the introns.
Nakajima-Iijima S, Hamada H, Reddy P, Kakunaga T
Proceedings of the National Academy of Sciences of the United States of America. 1985 ; 82 (18) : 6133-6137.
PMID 2994062
 
Evolution of the functional human beta-actin gene and its multi-pseudogene family: conservation of noncoding regions and chromosomal dispersion of pseudogenes.
Ng SY, Gunning P, Eddy R, Ponte P, Leavitt J, Shows T, Kedes L
Molecular and cellular biology. 1985 ; 5 (10) : 2720-2732.
PMID 3837182
 
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, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP
Nature genetics. 1997 ; 15 (1) : 95-98.
PMID 8988177
 
FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.
Ueyama H, Inazawa J, Nishino H, Ohkubo I, Miwa T
Cytogenetics and cell genetics. 1996 ; 74 (3) : 221-224.
PMID 8941379
 
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, Weber K
Proceedings of the National Academy of Sciences of the United States of America. 1978 ; 75 (3) : 1106-1110.
PMID 274701
 

Citation

This paper should be referenced as such :
Dahlén, A ; Mertens, F ; Mandahl, N ; Panagopoulos, I
ACTB (actin, beta)
Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):127-128.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ACTBID42959ch7p22.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Soft Tissues: Pericytoma with t(7;12)(p22;q13) ACTB/GLI1
Soft tissue tumors: an overview


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Dubowitz syndrome


External links

Nomenclature
HGNC (Hugo)ACTB   132
LRG (Locus Reference Genomic)LRG_132
Cards
AtlasACTBID42959ch7p22
Entrez_Gene (NCBI)ACTB  60  actin, beta
AliasesBRWS1; PS1TP5BP1
GeneCards (Weizmann)ACTB
Ensembl hg19 (Hinxton)ENSG00000075624 [Gene_View]  chr7:5566779-5570232 [Contig_View]  ACTB [Vega]
Ensembl hg38 (Hinxton)ENSG00000075624 [Gene_View]  chr7:5566779-5570232 [Contig_View]  ACTB [Vega]
ICGC DataPortalENSG00000075624
TCGA cBioPortalACTB
AceView (NCBI)ACTB
Genatlas (Paris)ACTB
WikiGenes60
SOURCE (Princeton)ACTB
Genetics Home Reference (NIH)ACTB
Genomic and cartography
GoldenPath hg19 (UCSC)ACTB  -     chr7:5566779-5570232 -  7p22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACTB  -     7p22   [Description]    (hg38-Dec_2013)
EnsemblACTB - 7p22 [CytoView hg19]  ACTB - 7p22 [CytoView hg38]
Mapping of homologs : NCBIACTB [Mapview hg19]  ACTB [Mapview hg38]
OMIM102630   243310   607371   608578   
Gene and transcription
Genbank (Entrez)AK025375 AK058019 AK098751 AK130062 AK130157
RefSeq transcript (Entrez)NM_001101
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_007992 NT_007819 NW_004929329
Consensus coding sequences : CCDS (NCBI)ACTB
Cluster EST : UnigeneHs.520640 [ NCBI ]
CGAP (NCI)Hs.520640
Alternative Splicing GalleryENSG00000075624
Gene ExpressionACTB [ NCBI-GEO ]   ACTB [ EBI - ARRAY_EXPRESS ]   ACTB [ SEEK ]   ACTB [ MEM ]
Gene Expression Viewer (FireBrowse)ACTB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60
GTEX Portal (Tissue expression)ACTB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP60709   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP60709  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP60709
Splice isoforms : SwissVarP60709
PhosPhoSitePlusP60709
Domaine pattern : Prosite (Expaxy)ACTINS_1 (PS00406)    ACTINS_2 (PS00432)    ACTINS_ACT_LIKE (PS01132)   
Domains : Interpro (EBI)Actin    Actin/actin-like_CS    Actin_CS   
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
Conserved Domain (NCBI)ACTB
DMDM Disease mutations60
Blocks (Seattle)ACTB
PDB (SRS)3BYH    3D2U    3J82    3LUE   
PDB (PDBSum)3BYH    3D2U    3J82    3LUE   
PDB (IMB)3BYH    3D2U    3J82    3LUE   
PDB (RSDB)3BYH    3D2U    3J82    3LUE   
Structural Biology KnowledgeBase3BYH    3D2U    3J82    3LUE   
SCOP (Structural Classification of Proteins)3BYH    3D2U    3J82    3LUE   
CATH (Classification of proteins structures)3BYH    3D2U    3J82    3LUE   
SuperfamilyP60709
Human Protein AtlasENSG00000075624
Peptide AtlasP60709
HPRD00032
IPIIPI00021439   IPI00807522   IPI01018925   IPI01015522   IPI00922693   IPI01012766   IPI01019081   IPI00942659   IPI00894365   IPI00893981   IPI00893604   IPI00894523   
Protein Interaction databases
DIP (DOE-UCLA)P60709
IntAct (EBI)P60709
FunCoupENSG00000075624
BioGRIDACTB
STRING (EMBL)ACTB
ZODIACACTB
Ontologies - Pathways
QuickGOP60709
Ontology : AmiGOnuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  retina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleoplasm  cytoplasm  cytosol  cytoskeleton  cytoskeleton  plasma membrane  plasma membrane  focal adhesion  movement of cell or subcellular component  membrane  kinesin binding  substantia nigra development  intracellular ribonucleoprotein complex  Tat protein binding  nucleosomal DNA binding  cell junction assembly  NuA4 histone acetyltransferase complex  cytoplasmic ribonucleoprotein granule  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  ATP-dependent chromatin remodeling  protein complex  positive regulation of gene expression, epigenetic  vascular endothelial growth factor receptor signaling pathway  ephrin receptor signaling pathway  nitric-oxide synthase binding  extracellular exosome  platelet aggregation  MLL5-L complex  blood microparticle  dense body  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  retina homeostasis  structural constituent of cytoskeleton  protein binding  ATP binding  extracellular space  nucleoplasm  cytoplasm  cytosol  cytoskeleton  cytoskeleton  plasma membrane  plasma membrane  focal adhesion  movement of cell or subcellular component  membrane  kinesin binding  substantia nigra development  intracellular ribonucleoprotein complex  Tat protein binding  nucleosomal DNA binding  cell junction assembly  NuA4 histone acetyltransferase complex  cytoplasmic ribonucleoprotein granule  Fc-gamma receptor signaling pathway involved in phagocytosis  identical protein binding  ATP-dependent chromatin remodeling  protein complex  positive regulation of gene expression, epigenetic  vascular endothelial growth factor receptor signaling pathway  ephrin receptor signaling pathway  nitric-oxide synthase binding  extracellular exosome  platelet aggregation  MLL5-L complex  blood microparticle  dense body  
Pathways : BIOCARTAChromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes]   
Pathways : KEGGRap1 signaling pathway    Phagosome    Hippo signaling pathway    Focal adhesion    Adherens junction    Tight junction    Leukocyte transendothelial migration    Regulation of actin cytoskeleton    Thyroid hormone signaling pathway    Gastric acid secretion    Bacterial invasion of epithelial cells    Vibrio cholerae infection    Pathogenic Escherichia coli infection    Shigellosis    Salmonella infection    Influenza A    Proteoglycans in cancer    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy    Viral myocarditis   
REACTOMEP60709 [protein]
REACTOME PathwaysR-HSA-196025 Formation of annular gap junctions [pathway]
REACTOME PathwaysR-HSA-5674135 MAP2K and MAPK activation [pathway]
REACTOME PathwaysR-HSA-190873 Gap junction degradation [pathway]
REACTOME PathwaysR-HSA-418990 Adherens junctions interactions [pathway]
REACTOME PathwaysR-HSA-5663213 RHO GTPases Activate WASPs and WAVEs [pathway]
REACTOME PathwaysR-HSA-1445148 Translocation of GLUT4 to the plasma membrane [pathway]
REACTOME PathwaysR-HSA-983231 Factors involved in megakaryocyte development and platelet production [pathway]
REACTOME PathwaysR-HSA-437239 Recycling pathway of L1 [pathway]
REACTOME PathwaysR-HSA-3214847 HATs acetylate histones [pathway]
REACTOME PathwaysR-HSA-4420097 VEGFA-VEGFR2 Pathway [pathway]
REACTOME PathwaysR-HSA-3928662 EPHB-mediated forward signaling [pathway]
REACTOME PathwaysR-HSA-445095 Interaction between L1 and Ankyrins [pathway]
REACTOME PathwaysR-HSA-3928665 EPH-ephrin mediated repulsion of cells [pathway]
REACTOME PathwaysR-HSA-389957 Prefoldin mediated transfer of substrate to CCT/TriC [pathway]
REACTOME PathwaysR-HSA-5663220 RHO GTPases Activate Formins [pathway]
REACTOME PathwaysR-HSA-5626467 RHO GTPases activate IQGAPs [pathway]
REACTOME PathwaysR-HSA-446353 Cell-extracellular matrix interactions [pathway]
REACTOME PathwaysR-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation [pathway]
REACTOME PathwaysR-HSA-390450 Folding of actin by CCT/TriC [pathway]
NDEx NetworkACTB
Atlas of Cancer Signalling NetworkACTB
Wikipedia pathwaysACTB
Orthology - Evolution
OrthoDB60
GeneTree (enSembl)ENSG00000075624
Phylogenetic Trees/Animal Genes : TreeFamACTB
HOVERGENP60709
HOGENOMP60709
Homologs : HomoloGeneACTB
Homology/Alignments : Family Browser (UCSC)ACTB
Gene fusions - Rearrangements
Fusion : MitelmanACO2/ACTB [22q13.2/7p22.1]  [t(7;22)(p22;q13)]  
Fusion : MitelmanACTB/GLI1 [7p22.1/12q13.3]  [t(7;12)(p22;q13)]  
Fusion : MitelmanACTB/GNAS [7p22.1/20q13.32]  [t(7;20)(p22;q13)]  
Fusion : MitelmanACTB/NOL4L [7p22.1/20q11.21]  [t(7;20)(p22;q11)]  
Fusion : MitelmanAPOL1/ACTB [22q12.3/7p22.1]  [t(7;22)(p22;q12)]  
Fusion : MitelmanH1F0/ACTB [22q13.1/7p22.1]  [t(7;22)(p22;q13)]  
Fusion : MitelmanNDUFS6/ACTB [5p15.33/7p22.1]  [t(5;7)(p15;p22)]  
Fusion : MitelmanOGT/ACTB [Xq13.1/7p22.1]  [t(X;7)(q13;p22)]  
Fusion : MitelmanSLC34A2/ACTB [4p15.2/7p22.1]  [t(4;7)(p15;p22)]  
Fusion : COSMICACTB [7p22.1]  -  GLI1 [12q13.3]  [fusion_1377]  [fusion_1378]  [fusion_1379]  [fusion_1380]  [fusion_1384]  [fusion_1389]  [fusion_1391]  
[fusion_1392]  [fusion_1393]  
Fusion : COSMICGLI1 [12q13.3]  -  ACTB [7p22.1]  [fusion_1387]  [fusion_1388]  [fusion_1390]  [fusion_1395]  
Fusion Cancer (Beijing)DLG4 [17p13.1]  -  ACTB [7p22.1]  [FUSC001350]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTB
dbVarACTB
ClinVarACTB
1000_GenomesACTB 
Exome Variant ServerACTB
ExAC (Exome Aggregation Consortium)ACTB (select the gene name)
Genetic variants : HAPMAP60
Genomic Variants (DGV)ACTB [DGVbeta]
DECIPHER (Syndromes)7:5566779-5570232  ENSG00000075624
CONAN: Copy Number AnalysisACTB 
Mutations
ICGC Data PortalACTB 
TCGA Data PortalACTB 
Broad Tumor PortalACTB
OASIS PortalACTB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACTB
intOGen PortalACTB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch ACTB
DgiDB (Drug Gene Interaction Database)ACTB
DoCM (Curated mutations)ACTB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTB (select a term)
intoGenACTB
NCG5 (London)ACTB
Cancer3DACTB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102630    243310    607371    608578   
Orphanet3066    11149   
MedgenACTB
Genetic Testing Registry ACTB
NextProtP60709 [Medical]
TSGene60
GENETestsACTB
Huge Navigator ACTB [HugePedia]
snp3D : Map Gene to Disease60
BioCentury BCIQACTB
ClinGenACTB (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60
Chemical/Pharm GKB GenePA24457
Clinical trialACTB
Miscellaneous
canSAR (ICR)ACTB (select the gene name)
Probes
Litterature
PubMed429 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTB
EVEXACTB
GoPubMedACTB
iHOPACTB
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 20:01:37 CET 2016

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