Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Other aliasBeta cytoskeletal actin
Beta actin
LocusID (NCBI) 60
Atlas_Id 42959
Location 7p22.1  [Link to chromosome band 7p22]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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) / 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) / TANGO2 (22q11.21)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) [ 10 ]
  Soft Tissues: Pericytoma with t(7;12)(p22;q13) ACTB/GLI1
Soft tissue tumors: an overview
t(4;7)(p15;p22) SLC34A2/ACTB
t(5;7)(p15;p22) NDUFS6/ACTB
t(7;20)(p22;q11) ACTB/NOL4L
t(7;20)(p22;q13) ACTB/GNAS
t(7;22)(p22;q12) APOL1/ACTB
t(7;22)(p22;q13) ACO2/ACTB
t(7;22)(p22;q13) H1F0/ACTB
t(X;7)(q13;p22) OGT/ACTB


External links

Nomenclature
Cards
AtlasACTBID42959ch7p22.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)60
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 18 17:27:04 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.