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ACTB (Actin, beta)

Identity

Other namesBeta cytoskeletal actin
Beta actin
HGNC (Hugo) ACTB
LocusID (NCBI) 60
Location 7p22.1
Location_base_pair Starts at 5566779 and ends at 5570232 bp from pter ( according to hg19-Feb_2009)  [Mapping]
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

Disease Pericytoma with t(7;12)
Prognosis Benign or low-malignant
Cytogenetics t(7;12)(p22;q13)
 
Representative G-banded partial karyotype of the 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.
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.
  

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065

External links

Nomenclature
HGNC (Hugo)ACTB   132
Cards
AtlasACTBID42959ch7p22
Entrez_Gene (NCBI)ACTB  60  actin, beta
GeneCards (Weizmann)ACTB
Ensembl (Hinxton)ENSG00000075624 [Gene_View]  chr7:5566779-5570232 [Contig_View]  ACTB [Vega]
ICGC DataPortalENSG00000075624
cBioPortalACTB
AceView (NCBI)ACTB
Genatlas (Paris)ACTB
WikiGenes60
SOURCE (Princeton)NM_001101
Genomic and cartography
GoldenPath (UCSC)ACTB  -  7p22.1   chr7:5566779-5570232 -  7p22   [Description]    (hg19-Feb_2009)
EnsemblACTB - 7p22 [CytoView]
Mapping of homologs : NCBIACTB [Mapview]
OMIM102630   243310   607371   
Gene and transcription
Genbank (Entrez)AK025375 AK058019 AK098751 AK130062 AK130157
RefSeq transcript (Entrez)NM_001101
RefSeq genomic (Entrez)AC_000139 NC_000007 NC_018918 NG_007992 NT_007819 NW_001838998 NW_004929329
Consensus coding sequences : CCDS (NCBI)ACTB
Cluster EST : UnigeneHs.520640 [ NCBI ]
CGAP (NCI)Hs.520640
Alternative Splicing : Fast-db (Paris)GSHG0027987
Alternative Splicing GalleryENSG00000075624
Gene ExpressionACTB [ NCBI-GEO ]     ACTB [ SEEK ]   ACTB [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP60709 (Uniprot)
NextProtP60709  [Medical]
With graphics : InterProP60709
Splice isoforms : SwissVarP60709 (Swissvar)
Domaine pattern : Prosite (Expaxy)ACTINS_1 (PS00406)    ACTINS_2 (PS00432)    ACTINS_ACT_LIKE (PS01132)   
Domains : Interpro (EBI)Actin-related [organisation]   Actin/actin-like_CS [organisation]   Actin_CS [organisation]  
Related proteins : CluSTrP60709
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
DMDM Disease mutations60
Blocks (Seattle)P60709
PDB (SRS)3BYH    3D2U    3LUE   
PDB (PDBSum)3BYH    3D2U    3LUE   
PDB (IMB)3BYH    3D2U    3LUE   
PDB (RSDB)3BYH    3D2U    3LUE   
Human Protein AtlasENSG00000075624 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidP60709
Interologous Interaction database P60709
IntegromeDBACTB
STRING (EMBL)ACTB
Ontologies - Pathways
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  chromatin organization  protein folding  cellular component movement  axon guidance  blood coagulation  postsynaptic density  membrane  kinesin binding  protein kinase binding  substantia nigra development  axon  ribonucleoprotein complex  cortical cytoskeleton  Tat protein binding  nucleosomal DNA binding  cell junction assembly  adherens junction organization  NuA4 histone acetyltransferase complex  cytoplasmic ribonucleoprotein granule  Fc-gamma receptor signaling pathway involved in phagocytosis  ATP-dependent chromatin remodeling  protein complex  cellular protein metabolic process  innate immune response  cell-cell junction organization  nitric-oxide synthase binding  'de novo' posttranslational protein folding  membrane organization  extracellular vesicular exosome  MLL5-L complex  blood microparticle  
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  chromatin organization  protein folding  cellular component movement  axon guidance  blood coagulation  postsynaptic density  membrane  kinesin binding  protein kinase binding  substantia nigra development  axon  ribonucleoprotein complex  cortical cytoskeleton  Tat protein binding  nucleosomal DNA binding  cell junction assembly  adherens junction organization  NuA4 histone acetyltransferase complex  cytoplasmic ribonucleoprotein granule  Fc-gamma receptor signaling pathway involved in phagocytosis  ATP-dependent chromatin remodeling  protein complex  cellular protein metabolic process  innate immune response  cell-cell junction organization  nitric-oxide synthase binding  'de novo' posttranslational protein folding  membrane organization  extracellular vesicular exosome  MLL5-L complex  blood microparticle  
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   
Protein Interaction DatabaseACTB
Wikipedia pathwaysACTB
Gene fusion - rearrangments
Rearrangement : COSMICACTB [7p22.1]  -  GLI1 [12q13.3]  
  [COSF1377] [COSF1378] [COSF1379] [COSF1380] [COSF1384] [COSF1389] [COSF1391] [COSF1392] [COSF1393] 
 
Rearrangement : COSMICGLI1 [12q13.3]  -  ACTB [7p22.1]  
  [COSF1387] [COSF1388] [COSF1390] [COSF1395] 
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACTB
snp3D : Map Gene to Disease60
SNP (GeneSNP Utah)ACTB
SNP : HGBaseACTB
Genetic variants : HAPMAPACTB
Exome VariantACTB
1000_GenomesACTB 
ICGC programENSG00000075624 
Somatic Mutations in Cancer : COSMICACTB 
CONAN: Copy Number AnalysisACTB 
Mutations and Diseases : HGMDACTB
Genomic VariantsACTB  ACTB [DGVbeta]
dbVarACTB
ClinVarACTB
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM102630    243310    607371   
MedgenACTB
GENETestsACTB
Disease Genetic AssociationACTB
Huge Navigator ACTB [HugePedia]  ACTB [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneACTB
Homology/Alignments : Family Browser (UCSC)ACTB
Phylogenetic Trees/Animal Genes : TreeFamACTB
Chemical/Protein Interactions : CTD60
Chemical/Pharm GKB GenePA24457
Clinical trialACTB
Cancer Resource (Charite)ENSG00000075624
Other databases
Probes
Probeprobes RP11-1275H24 (AC092171; substantially larger than the 85 kb reported by the NCBI) and RP11-93G19 (BAC ends: AQ321651, AQ321650)
Litterature
PubMed393 Pubmed reference(s) in Entrez
CoreMineACTB
iHOPACTB
OncoSearchACTB

Bibliography

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
 
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
 
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
 
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
 
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).
Dahlą©n A, Fletcher CD, Mertens F, Fletcher JA, Perez-Atayde AR, Hicks MJ, Debiec-Rychter M, Sciot R, Wejde J, Wedin R, Mandahl N, Panagopoulos I
The American journal of pathology. 2004 ; 164 (5) : 1645-1653.
PMID 15111311
 
Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12).
Dahlą©n A, Mertens F, Mandahl N, Panagopoulos I
Biochemical and biophysical research communications. 2004 ; 325 (4) : 1318-1323.
PMID 15555571
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written03-2005Anna Dahlén, Fredrik Mertens, Nils Mandahl, Ioannis Panagopoulos

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/ACTBID42959ch7p22.html

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indexed on : Fri Aug 8 11:12:02 CEST 2014

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