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Aliases for ACTB Gene

Aliases for ACTB Gene

  • Actin, Beta 2 3 5
  • 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 dystonia, juvenile-onset and baraitser-winter syndrome 1. Among its related pathways are Gene Expression and Sertoli-Sertoli Cell Junction Dynamics. 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

Promoters for ACTB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACTB on UCSC Golden Path with GeneCards custom track

Genomic Location for ACTB Gene

Chromosome:
7
Start:
5,527,148 bp from pter
End:
5,563,784 bp from pter
Size:
36,637 bases
Orientation:
Minus strand

Genomic View for ACTB Gene

Genes around ACTB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACTB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P60709-ACTB_HUMAN
    Recommended name:
    Actin, cytoplasmic 1
    Protein Accession:
    P60709
    Secondary Accessions:
    • P02570
    • P70514
    • P99021
    • Q11211
    • Q64316
    • Q75MN2
    • Q96B34
    • Q96HG5

    Protein attributes for ACTB Gene

    Size:
    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.
    Miscellaneous:
    • 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

HGNC:

Protein Domains for ACTB Gene

Graphical View of Domain Structure for InterPro Entry

P60709

UniProtKB/Swiss-Prot:

ACTB_HUMAN :
  • Belongs to the actin family.
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:0000980 contributes_to RNA polymerase II distal enhancer sequence-specific DNA binding IDA 16217013
GO:0019894 kinesin binding IPI 18680169
genes like me logo Genes that share ontologies with ACTB: view
genes like me logo Genes that share phenotypes with ACTB: view

Human Phenotype Ontology for ACTB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACTB Gene

MGI Knock Outs for ACTB:
  • Actb tm1Alj
  • Actb tm1.1(tetO-COP4*/EYFP)Kftnk
  • Actb tm2.1Npa

Animal Model Products

  • Taconic Biosciences Mouse Models 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

COMPARTMENTS
Jensen Localization Image for ACTB Gene COMPARTMENTS Subcellular localization image for ACTB gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
plasma membrane 4
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:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0043234 protein complex IDA 16217013
GO:0070062 extracellular exosome IDA 11487543
GO:0097433 dense body ISS --
genes like me logo Genes that share ontologies with ACTB: view

Pathways & Interactions for ACTB Gene

SuperPathways for ACTB Gene

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

Gene Ontology (GO) - Biological Process for ACTB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0006457 protein folding TAS --
GO:0006928 movement of cell or subcellular component TAS 6202424
GO:0034332 adherens junction organization TAS --
GO:0045087 innate immune response 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
380488-27-7
CK 666
442633-00-3
CK 869
388592-44-7
Wiskostatin
253449-04-6

(5) Tocris Compounds for ACTB Gene

Compound Action Cas Number
187-1, N-WASP inhibitor N-WASP inhibitor; inhibits actin assembly 380488-27-7
CK 666 Arp2/3 inhibitor; inhibits actin polymerization 442633-00-3
CK 869 Arp2/3 inhibitor; inhibits actin polymerization 388592-44-7
Latrunculin A Inhibitor of actin assembly and polymerization 76343-93-6
Wiskostatin N-WASP inhibitor; inhibits Arp2/3 activation 253449-04-6
genes like me logo Genes that share compounds with ACTB: view

Transcripts for ACTB Gene

Unigene Clusters for ACTB Gene

Actin, beta:
Representative Sequences:

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: - - - -
SP9:
SP10: -

Relevant External Links for ACTB Gene

GeneLoc Exon Structure for
ACTB
ECgene alternative splicing isoforms for
ACTB

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
cow
(Bos Taurus)
Mammalia ACTB 35
  • 93.78 (n)
  • 100 (a)
ACTB 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACTB 35
  • 93.78 (n)
  • 99.73 (a)
ACTB 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Actb 35
  • 91.91 (n)
  • 100 (a)
Actb 16
Actb 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACTB 35
  • 99.47 (n)
  • 100 (a)
-- 36
  • 46 (a)
OneToMany
ACTB 36
  • 97 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Actb 35
  • 92.44 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia ACTB 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACTB 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACTB 35
  • 88.27 (n)
  • 100 (a)
gga-mir-3533 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACTB 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia actb 35
  • 81.6 (n)
  • 99.73 (a)
zebrafish
(Danio rerio)
Actinopterygii bactin2 35
actb1 36
  • 99 (a)
ManyToMany
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)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005095 35
  • 84.49 (n)
  • 96.52 (a)
worm
(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)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACT1 36
  • 89 (a)
OneToMany
ACT1 38
barley
(Hordeum vulgare)
Liliopsida Hv.8296 35
rice
(Oryza sativa)
Liliopsida Os.3420 35
Os05g0438800 35
  • 73.8 (n)
  • 87.7 (a)
corn
(Zea mays)
Liliopsida Zm.6944 35
sea squirt
(Ciona savignyi)
Ascidiacea CSCA1 36
  • 97 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for ACTB (if available)
TreeFam:
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
VAR_030026 Dystonia, juvenile-onset (DJO)
rs11546899 - 5,528,355(-) GCTGC(C/T)TGACG reference, missense
rs281875331 Baraitser-Winter syndrome 1 (BRWS1) 5,529,624(-) TCGAC(A/C/G)ACGGC upstream-variant-2KB, reference, missense
rs281875332 Baraitser-Winter syndrome 1 (BRWS1) 5,529,331(-) GCATC(C/G/T)TCACC upstream-variant-2KB, reference, missense
rs281875333 Baraitser-Winter syndrome 1 (BRWS1) 5,528,497(-) CCGAG(A/C/T)GCGGC reference, missense

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: 11.6% 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
ACTB
Human Gene Mutation Database (HGMD)
ACTB

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
dystonia, juvenile-onset
  • juvenile-onset dystonia
baraitser-winter syndrome 1
  • fryns-aftimos syndrome
developmental malformations-deafness-dystonia syndrome
baraitser-winter syndrome
  • brws
von economo's disease
  • encephalitis lethargica
- elite association - COSMIC cancer census association via MalaCards
Search ACTB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACTB_HUMAN
  • 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 (DJO) [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)
ACTB
Human Genome Epidemiology (HuGE) Navigator
ACTB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACTB
genes like me logo Genes that share disorders with ACTB: view

Publications for ACTB Gene

  1. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser- Winter syndrome. (PMID: 22366783) Riviere J.B. … Dobyns W.B. (Nat. Genet. 2012) 3 4 67
  2. 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). (PMID: 15111311) DahlAcn A. … Panagopoulos I. (Am. J. Pathol. 2004) 3 23
  3. Molecular genetic characterization of the genomic ACTB-GLI fusion in pericytoma with t(7;12). (PMID: 15555571) DahlAcn A. … Panagopoulos I. (Biochem. Biophys. Res. Commun. 2004) 3 23
  4. A role for Rev in the association of HIV-1 gag mRNA with cytoskeletal beta-actin and viral protein expression. (PMID: 9150887) Kimura T. … Fujisawa J.I. (Biochimie 1996) 3 23
  5. Sublocalization of an invasion-inducing locus and other genes on human chromosome 7. (PMID: 1505215) Habets G.G. … Collard J.G. (Cytogenet. Cell Genet. 1992) 2 3

Products for ACTB Gene

Sources for ACTB Gene

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