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Aliases for ACTB Gene

Aliases for ACTB Gene

  • Actin, Beta 2 3
  • PS1TP5-Binding Protein 1 3
  • Beta Cytoskeletal Actin 3
  • Beta-Actin 4
  • PS1TP5BP1 3
  • BRWS1 3

External Ids for ACTB Gene

Previous GeneCards Identifiers for ACTB Gene

  • GC07M005211
  • GC07M005311
  • GC07M005340
  • GC07M005533
  • GC07M005479
  • GC07M005566

Summaries for ACTB Gene

Entrez Gene Summary for ACTB Gene

  • This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACTB Gene

ACTB (Actin, Beta) is a Protein Coding gene. Diseases associated with ACTB include short stature - intellectual disability - eye anomalies - cleft lip/palate and developmental malformations - deafness - dystonia. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include identical protein binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is ACTRT1.

UniProtKB/Swiss-Prot for ACTB Gene

  • Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells

Tocris Summary for ACTB Gene

  • Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states: G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures.

Gene Wiki entry for ACTB Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACTB Gene

Genomics for ACTB Gene

Regulatory Elements for ACTB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACTB Gene

5,527,148 bp from pter
5,563,784 bp from pter
36,637 bases
Minus strand

Genomic View for ACTB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACTB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACTB Gene

Proteins for ACTB Gene

  • Protein details for ACTB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Actin, cytoplasmic 1
    Protein Accession:
    Secondary Accessions:
    • P02570
    • P70514
    • P99021
    • Q11211
    • Q64316
    • Q75MN2
    • Q96B34
    • Q96HG5

    Protein attributes for ACTB Gene

    375 amino acids
    Molecular mass:
    41737 Da
    Quaternary structure:
    • Interacts with CPNE1 (via VWFA domain) and CPNE4 (via VWFA domain) (By similarity). Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Found in a complex with XPO6, Ran, ACTB and PFN1. Component of the MLL5-L complex, at least composed of KMT2E/MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with XPO6 and EMD. Interacts with ERBB2. Interacts with GCSAM.
    • In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility

    Three dimensional structures from OCA and Proteopedia for ACTB Gene

neXtProt entry for ACTB Gene

Proteomics data for ACTB Gene at MOPED

Post-translational modifications for ACTB Gene

  • (Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-50 of one monomer and Glu-270 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
  • ISGylated.
  • Monomethylation at Lys-84 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
  • Oxidation of Met-44 and Met-47 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promote actin repolymerization (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACTB Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ACTB (ACTB)

No data available for DME Specific Peptides for ACTB Gene

Domains & Families for ACTB Gene

Gene Families for ACTB Gene


Protein Domains for ACTB Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the actin family.
  • Belongs to the actin family.
genes like me logo Genes that share domains with ACTB: view

Function for ACTB Gene

Molecular function for ACTB Gene

GENATLAS Biochemistry:
actin,beta,cytoplasmic,major constituent of microfilaments
UniProtKB/Swiss-Prot Function:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells

Gene Ontology (GO) - Molecular Function for ACTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 contributes_to RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16217013
GO:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA 16217013
GO:0005200 structural constituent of cytoskeleton TAS 6202424
GO:0005515 protein binding IPI 14592989
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACTB: view
genes like me logo Genes that share phenotypes with ACTB: view

Animal Models for ACTB Gene

MGI Knock Outs for ACTB:

miRNA for ACTB Gene

miRTarBase miRNAs that target ACTB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ACTB Gene

Localization for ACTB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACTB Gene

Cytoplasm, cytoskeleton. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.

Subcellular locations from

Jensen Localization Image for ACTB Gene COMPARTMENTS Subcellular localization image for ACTB gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 4
plasma membrane 3
mitochondrion 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ACTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 16217013
GO:0005615 extracellular space IDA 16502470
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 16130169
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ACTB: view

Pathways & Interactions for ACTB Gene

genes like me logo Genes that share pathways with ACTB: view

PCR Array Products

Gene Ontology (GO) - Biological Process for ACTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IEP 23580065
GO:0006325 chromatin organization TAS --
GO:0006457 protein folding TAS --
GO:0006928 movement of cell or subcellular component TAS 6202424
GO:0007264 small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ACTB: view

No data available for SIGNOR curated interactions for ACTB Gene

Drugs & Compounds for ACTB Gene

(1) Drugs for ACTB Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Latrunculin A Experimental Pharma Inhibitor of actin assembly and polymerization 0

(5) Additional Compounds for ACTB Gene - From: Tocris and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
187-1, N-WASP inhibitor
CK 666
CK 869
genes like me logo Genes that share compounds with ACTB: view

Transcripts for ACTB Gene

Unigene Clusters for ACTB Gene

Actin, beta:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACTB

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACTB Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c ^ 7
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - - - -
SP6: - - - - - - - - - -
SP7: - -
SP8: - - - -
SP10: -

Relevant External Links for ACTB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACTB Gene

mRNA expression in normal human tissues for ACTB Gene

mRNA differential expression in normal tissues according to GTEx for ACTB Gene

This gene is overexpressed in Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for ACTB Gene

This gene is overexpressed in Neutrophil (11.1), Tlymphocyte (8.7), and Lavage (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACTB Gene

SOURCE GeneReport for Unigene cluster for ACTB Gene Hs.520640

genes like me logo Genes that share expression patterns with ACTB: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ACTB Gene

Orthologs for ACTB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTB Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ACTB 35
  • 93.78 (n)
  • 100 (a)
  • 99 (a)
(Canis familiaris)
Mammalia ACTB 35
  • 93.78 (n)
  • 99.73 (a)
  • 95 (a)
(Mus musculus)
Mammalia Actb 35
  • 91.91 (n)
  • 100 (a)
Actb 16
Actb 36
  • 100 (a)
(Pan troglodytes)
Mammalia ACTB 35
  • 99.47 (n)
  • 100 (a)
-- 36
  • 46 (a)
  • 97 (a)
(Rattus norvegicus)
Mammalia Actb 35
  • 92.44 (n)
  • 100 (a)
(Monodelphis domestica)
Mammalia ACTB 36
  • 100 (a)
(Ornithorhynchus anatinus)
Mammalia ACTB 36
  • 100 (a)
(Gallus gallus)
Aves ACTB 35
  • 88.27 (n)
  • 100 (a)
gga-mir-3533 36
  • 100 (a)
(Anolis carolinensis)
Reptilia ACTB 36
  • 95 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia actb 35
  • 81.6 (n)
  • 99.73 (a)
(Danio rerio)
Actinopterygii bactin2 35
actb1 36
  • 99 (a)
fruit fly
(Drosophila melanogaster)
Insecta Act42A 37
  • 97 (a)
Act57B 37
  • 95 (a)
Act5C 37
  • 98 (a)
Act79B 37
  • 94 (a)
Act87E 37
  • 95 (a)
Act88F 37
  • 95 (a)
Arp53D 37
  • 64 (a)
Act87E 35
  • 85.12 (n)
  • 95.99 (a)
Act57B 36
  • 95 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005095 35
  • 84.49 (n)
  • 96.52 (a)
(Caenorhabditis elegans)
Secernentea act-1 37
  • 97 (a)
act-2 37
  • 98 (a)
act-3 37
  • 97 (a)
act-5 37
  • 93 (a)
F42C5.9 37
  • 28 (a)
act-2 36
  • 98 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACT1 36
  • 89 (a)
ACT1 38
(Hordeum vulgare)
Liliopsida Hv.8296 35
(Oryza sativa)
Liliopsida Os.3420 35
Os05g0438800 35
  • 73.8 (n)
  • 87.7 (a)
(Zea mays)
Liliopsida Zm.6944 35
sea squirt
(Ciona savignyi)
Ascidiacea CSCA1 36
  • 97 (a)
Species with no ortholog for ACTB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACTB Gene

Gene Tree for ACTB (if available)
Gene Tree for ACTB (if available)

Paralogs for ACTB Gene

genes like me logo Genes that share paralogs with ACTB: view

Variants for ACTB Gene

Sequence variations from dbSNP and Humsavar for ACTB Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs7612 -- 5,527,481(+) AACAA(A/C/G/T)GCATC utr-variant-3-prime
rs852391 -- 5,532,595(-) CCCAG(C/T)GGCAA upstream-variant-2KB
rs852392 -- 5,532,501(-) CTCTG(C/T)AGATC upstream-variant-2KB
rs852422 -- 5,528,862(-) GTAGG(C/G/T)GCACA intron-variant, utr-variant-5-prime
rs852423 -- 5,528,735(+) GAGAT(A/G)CACCA intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ACTB Gene

Variant ID Type Subtype PubMed ID
nsv436904 CNV Insertion 17901297
nsv887391 CNV Loss 21882294
dgv7142n71 CNV Loss 21882294
nsv887407 CNV Loss 21882294
nsv526194 CNV Gain 19592680
nsv830890 CNV Loss 17160897
nsv517558 CNV Loss 19592680
nsv887411 CNV Loss 21882294
nsv471304 CNV Loss 18288195
nsv887413 CNV Loss 21882294
esv25511 CNV Loss 19812545

Variation tolerance for ACTB Gene

Residual Variation Intolerance Score: 11.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACTB Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACTB Gene

Disorders for ACTB Gene

MalaCards: The human disease database

(10) MalaCards diseases for ACTB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
short stature - intellectual disability - eye anomalies - cleft lip/palate
  • richieri costa-guion almeida syndrome
developmental malformations - deafness - dystonia
dystonia, juvenile-onset
  • juvenile-onset dystonia
baraitser-winter syndrome 1
  • iris coloboma with ptosis hypertelorism and mental retardation
baraitser-winter syndrome
  • brws
- elite association
Search ACTB in MalaCards View complete list of genes associated with diseases


  • Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. {ECO:0000269 PubMed:22366783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dystonia, juvenile-onset (DYTJ) [MIM:607371]: A form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss. {ECO:0000269 PubMed:16685646}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACTB Gene

recurrent infection,photosensitivity and mild mental retardation associated to abnormalities in neutrophil chemotaxis,superoxide production and membrane potential response

Relevant External Links for ACTB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ACTB: view

Publications for ACTB Gene

  1. HSP60, a protein downregulated by IGFBP7 in colorectal carcinoma. (PMID: 20433702) Ruan W. … Lai M. (J. Exp. Clin. Cancer Res. 2010) 23 67
  2. Inhibition of angiogenesis in vitro: a central role for beta-actin dependent cytoskeletal remodeling. (PMID: 19323981) Durham J.T. … Herman I.M. (Microvasc. Res. 2009) 23 67
  3. Multiple protective activities of neuroglobin in cultured neuronal cells exposed to hypoxia re-oxygenation injury. (PMID: 19154338) Duong T.T. … Harris H.H. (J. Neurochem. 2009) 23 67
  4. Proteomic analysis of MCF-7 cells treated with benzo[a]pyrene, dibenzo[a,l]pyrene, coal tar extract, and diesel exhaust extract. (PMID: 18495319) Hooven L.A. … Baird W.M. (Toxicology 2008) 23 67
  5. Characterization and phylogeny of two beta-cytoskeletal actins from Hemibarbus mylodon (Cyprinidae, Cypriniformes), a threatened fish species in Korea. (PMID: 17852350) Kim K.Y. … Nam Y.K. (DNA Seq. 2008) 23 67

Products for ACTB Gene

Sources for ACTB Gene

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