ACTB (Actin, beta)

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ACTB (Actin, beta)

Written	2005-03	Anna 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 names	Beta cytoskeletal actin
	Beta actin
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) [ 1 ]

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
	Cards
Atlas	ACTBID42959ch7p22
Entrez_Gene (NCBI)	ACTB 60 actin, beta
Aliases	BRWS1; 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 DataPortal	ENSG00000075624
TCGA cBioPortal	ACTB
AceView (NCBI)	ACTB
Genatlas (Paris)	ACTB
WikiGenes	60
SOURCE (Princeton)	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)
Ensembl	ACTB - 7p22 [CytoView hg19] ACTB - 7p22 [CytoView hg38]
Mapping of homologs : NCBI	ACTB [Mapview hg19] ACTB [Mapview hg38]
OMIM	102630 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 : Unigene	Hs.520640 [ NCBI ]
CGAP (NCI)	Hs.520640
Alternative Splicing Gallery	ENSG00000075624
Gene Expression	ACTB [ 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]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	60
GTEX Portal (Tissue expression)	ACTB
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P60709 (Uniprot)
NextProt	P60709 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P60709
Splice isoforms : SwissVar	P60709 (Swissvar)
PhosPhoSitePlus	P60709
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)
DMDM Disease mutations	60
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 KnowledgeBase	3BYH 3D2U 3J82 3LUE
SCOP (Structural Classification of Proteins)	3BYH 3D2U 3J82 3LUE
CATH (Classification of proteins structures)	3BYH 3D2U 3J82 3LUE
Superfamily	P60709
Human Protein Atlas	ENSG00000075624
Peptide Atlas	P60709
HPRD	00032
IPI	IPI00021439 IPI00807522 IPI01018925 IPI01015522 IPI00922693 IPI01012766 IPI01019081 IPI00942659 IPI00894365 IPI00893981 IPI00893604 IPI00894523
	Protein Interaction databases
DIP (DOE-UCLA)	P60709
IntAct (EBI)	P60709
FunCoup	ENSG00000075624
BioGRID	ACTB
STRING (EMBL)	ACTB
ZODIAC	ACTB
	Ontologies - Pathways
QuickGO	P60709
Ontology : AmiGO	nuclear 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-EBI	nuclear 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 : BIOCARTA	Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes]
Pathways : KEGG	Rap1 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
REACTOME	P60709 [protein]
REACTOME Pathways	R-HSA-196025 Formation of annular gap junctions [pathway]
REACTOME Pathways	R-HSA-5674135 MAP2K and MAPK activation [pathway]
REACTOME Pathways	R-HSA-190873 Gap junction degradation [pathway]
REACTOME Pathways	R-HSA-418990 Adherens junctions interactions [pathway]
REACTOME Pathways	R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs [pathway]
REACTOME Pathways	R-HSA-1445148 Translocation of GLUT4 to the plasma membrane [pathway]
REACTOME Pathways	R-HSA-983231 Factors involved in megakaryocyte development and platelet production [pathway]
REACTOME Pathways	R-HSA-437239 Recycling pathway of L1 [pathway]
REACTOME Pathways	R-HSA-3214847 HATs acetylate histones [pathway]
REACTOME Pathways	R-HSA-4420097 VEGFA-VEGFR2 Pathway [pathway]
REACTOME Pathways	R-HSA-3928662 EPHB-mediated forward signaling [pathway]
REACTOME Pathways	R-HSA-445095 Interaction between L1 and Ankyrins [pathway]
REACTOME Pathways	R-HSA-3928665 EPH-ephrin mediated repulsion of cells [pathway]
REACTOME Pathways	R-HSA-389957 Prefoldin mediated transfer of substrate to CCT/TriC [pathway]
REACTOME Pathways	R-HSA-5663220 RHO GTPases Activate Formins [pathway]
REACTOME Pathways	R-HSA-5626467 RHO GTPases activate IQGAPs [pathway]
REACTOME Pathways	R-HSA-446353 Cell-extracellular matrix interactions [pathway]
REACTOME Pathways	R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation [pathway]
REACTOME Pathways	R-HSA-390450 Folding of actin by CCT/TriC [pathway]
NDEx Network	ACTB
Atlas of Cancer Signalling Network	ACTB
Wikipedia pathways	ACTB
	Orthology - Evolution
OrthoDB	60
GeneTree (enSembl)	ENSG00000075624
Phylogenetic Trees/Animal Genes : TreeFam	ACTB
Homologs : HomoloGene	ACTB
Homology/Alignments : Family Browser (UCSC)	ACTB
	Gene fusions - Rearrangements
Fusion : Mitelman	ACO2/ACTB [22q13.2/7p22.1] [t(7;22)(p22;q13)]
Fusion : Mitelman	ACTB/GLI1 [7p22.1/12q13.3] [t(7;12)(p22;q13)]
Fusion : Mitelman	ACTB/GNAS [7p22.1/20q13.32] [t(7;20)(p22;q13)]
Fusion : Mitelman	ACTB/NOL4L [7p22.1/20q11.21] [t(7;20)(p22;q11)]
Fusion : Mitelman	APOL1/ACTB [22q12.3/7p22.1] [t(7;22)(p22;q12)]
Fusion : Mitelman	H1F0/ACTB [22q13.1/7p22.1] [t(7;22)(p22;q13)]
Fusion : Mitelman	NDUFS6/ACTB [5p15.33/7p22.1] [t(5;7)(p15;p22)]
Fusion : Mitelman	OGT/ACTB [Xq13.1/7p22.1] [t(X;7)(q13;p22)]
Fusion : Mitelman	SLC34A2/ACTB [4p15.2/7p22.1] [t(4;7)(p15;p22)]
Fusion : COSMIC	GLI1 [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, variants
NCBI Variation Viewer	ACTB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	ACTB
dbVar	ACTB
ClinVar	ACTB
1000_Genomes	ACTB
Exome Variant Server	ACTB
ExAC (Exome Aggregation Consortium)	ACTB (select the gene name)
Genetic variants : HAPMAP	60
Genomic Variants (DGV)	ACTB [DGVbeta]
	Mutations
ICGC Data Portal	ACTB
TCGA Data Portal	ACTB
Broad Tumor Portal	ACTB
OASIS Portal	ACTB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	ACTB
intOGen Portal	ACTB
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
BioMuta	search 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)
intoGen	ACTB
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	7:5566779-5570232 ENSG00000075624
CONAN: Copy Number Analysis	ACTB
Mutations and Diseases : HGMD	ACTB
OMIM	102630 243310 607371 608578
Medgen	ACTB
Genetic Testing Registry	ACTB
NextProt	P60709 [Medical]
TSGene	60
GENETests	ACTB
Huge Navigator	ACTB [HugePedia]
snp3D : Map Gene to Disease	60
BioCentury BCIQ	ACTB
ClinGen	ACTB (curated)
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	60
Chemical/Pharm GKB Gene	PA24457
Clinical trial	ACTB
	Miscellaneous
canSAR (ICR)	ACTB (select the gene name)
	Probes
	Litterature
PubMed	429 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	ACTB
EVEX	ACTB
GoPubMed	ACTB
iHOP	ACTB

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Mon Sep 19 19:26:09 CEST 2016

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