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    ACTB actin beta [ Homo sapiens (human) ]

    Gene ID: 60, updated on 4-Oct-2020

    Summary

    Official Symbol
    ACTBprovided by HGNC
    Official Full Name
    actin betaprovided by HGNC
    Primary source
    HGNC:HGNC:132
    See related
    Ensembl:ENSG00000075624 MIM:102630
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRWS1; PS1TP5BP1
    Summary
    This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in appendix (RPKM 2395.4), lymph node (RPKM 2072.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See ACTB in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (5527148..5530601, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5566779..5570232, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene F-box and leucine rich repeat protein 18 Neighboring gene microRNA 589 Neighboring gene uncharacterized LOC221946 Neighboring gene S100 calcium binding protein A11 pseudogene Neighboring gene Sharpr-MPRA regulatory region 4030

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Baraitser-Winter syndrome 1 Compare labs
    Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
    GeneReviews: Not available
    Developmental malformations-deafness-dystonia syndrome Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2015-02-05)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2015-02-05)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Gelsolin overexpression impairs HIV-1 gp120-induced cortical F-actin reorganization and capping and gp120-mediated CD4-CCR5 and CD4-CXCR4 redistribution in permissive lymphocytes PubMed
    env The N-terminal leucine-rich repeat fragment of Slit2 inhibits HIV-1 gp120-induced actin polymerization in T cells PubMed
    env Tandem affinity purification and mass spectrometry analysis identify actin beta unit (ACTB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    env HIV-1 gp120-CXCR4 signaling triggers cofilin activation and actin reorganization, which are important for a post entry process leading to viral nuclear localization PubMed
    env Syntenin-1 is recruited toward HIV-1 gp120/gp41-driven virus/cell and cell/cell contacts, associates with CD4, limits HIV-1-induced cell fusion and viral entry, and modulates gp120/gp41-triggered actin polymerization and PIP2 accumulation PubMed
    env Inducible T-cell kinase (ITK) affects viral entry and gp120-induced actin reorganization PubMed
    env Lck phosphorylates CD3zeta and the TCR-CD3 complex is recruited to a virological synapse (VS) when cells interact with gp120+ICAM-1 bilayers, leading to creation of an F-actin-depleted zone PubMed
    env HIV-1 gp120 upregulates the expression of actin beta in T-cell lines but downregulates the expression of actin beta in umbilical cord blood mononuclear cells PubMed
    Envelope surface glycoprotein gp160, precursor env Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 ectodomain fragment (amino acids 550-639) induces CD44 and beta-actin redistribution to the membrane lipid rafts on the human brain micro vascular endothelial cells PubMed
    env Syntenin-1 is recruited toward HIV-1 gp120/gp41-driven virus/cell and cell/cell contacts, associates with CD4, limits HIV-1-induced cell fusion and viral entry, and modulates gp120/gp41-triggered actin polymerization and PIP2 accumulation PubMed
    env The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF) PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify actin beta unit (ACTB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef HIV-1 NA7 and SF2 Nef utilize their C-terminal aspartic acids to relocalize ACTA1 and ACTB (F-actin) PubMed
    nef HIV-1 Nef co-localizes with F-actin and reorganizes F-actin assembly in the cortical regions of human podocyte PubMed
    nef Tandem affinity purification and mass spectrometry analysis identify actin beta unit (ACTB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    nef HIV-1 Nef inhibits CXCL12 induced chemotaxis in Jurkat cells, monocytes, and PBMCs, which leads to marked downregulation of F-actin accumulation in cells PubMed
    nef HIV-1 Nef induces loss of F-actin assembly and inhibits retinoid receptor-mediated transcription PubMed
    nef HIV-1 Nef requires a PAK2 recruitment motif (F195/191I) for inhibition of actin remodeling and induction of cofilin hyperphosphorylation PubMed
    nef Assays with phage-displayed Nef from HIV-1 NL4-3 have been used to identify a series of guanidine alkaloid-based inhibitors of Nef interactions with p53, actin, and p56(lck) PubMed
    nef Disruption of the actin cytoskeleton by treatment with CytD and LatB complements the infectivity defect of HIV-1 virions lacking Nef, suggesting Nef interacts with actin to enhance virion infectivity PubMed
    nef HIV-1 Nef induces rearrangement of actin microfilaments in dendritic cells, leading to uropod and ruffle formation, as well as the recruitment of T cells with a pronounced focal polarization of F-actin toward the DC/T cell contact sites PubMed
    nef N-terminal myristoylated, but not unmyristoylated, HIV-1 Nef associates with actin in human B and T lymphocytes forming a high-molecular-mass complex of 150-300 kDa that influences the subcellular localization of Nef PubMed
    Pr55(Gag) gag HIV-1 Gag interacts with ACTB as demonstrated by proximity dependent biotinylation proteomics PubMed
    gag Tec kinase chemical inhibitors diminish the recruitment of ITK to the plasma membrane perturbing HIV-1 Gag-ITK co-localization, disrupting F-actin polymerization, and inhibiting HIV-1 release and replication PubMed
    gag HIV-1 Gag, ITK, and F-actin are located in overlapping and discrete regions of T cell-T cell contact sites PubMed
    gag Tandem affinity purification and mass spectrometry analysis identify actin beta unit (ACTB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    gag Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1 PubMed
    gag HIV-1 Gag assembly and budding occur through an actin-driven mechanism PubMed
    gag Mature HIV-1 Nucleocapsid, as well as the nucleocapsid domain of the HIV-1 Gag polyprotein, binds filamentous actin resulting in incorporation of actin into virus particles and enhancement of cell motility PubMed
    Rev rev Rev plays an important role in the compartmentation of translation by directing RRE-containing mRNAs to the beta-actin to form the perinuclear clusters at which the synthesis of viral structural proteins begins PubMed
    rev during Rev-mediated nuclear export of HIV-1 mRNA, actin binds to eukaryotic initiation factor 5A (eIF-5A), a protein that interacts directly with Rev and facilitates the nuclear export process PubMed
    rev beta actin is involved in the Rev-dependent nuclear export of unspliced and incompletely spliced HIV-1 mRNA PubMed
    Tat tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
    tat Treatment of primary hippocampal neurons with HIV-1 Tat produces a significant early reduction in F-actin labeled puncta. The cysteine rich domain (residues 22-37) of Tat is required for Tat-mediated reduction of F-actin labeled puncta PubMed
    tat Uptake of the HIV-1 Tat protein is regulated by arrangement of the actin cytoskeleton in epithelial cells PubMed
    tat In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex PubMed
    tat Upregulation of actin, heat shock protein 90 and mitochondrial single-stranded DNA binding protein, and downregulation of lactate dehydrogenase are identified in human astrocytes expressing Tat PubMed
    tat HIV-1 Tat induces actin cytoskeletal rearrangements through p21-activated kinase 1 (PAK1) and downstream activation of the endothelial NADPH oxidase, an effect that is lost by introduction of mutations into the Tat cysteine-rich or basic domains PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of actin beta (ACTB) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    matrix gag The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules) PubMed
    nucleocapsid gag HIV-1 NC-like aggregates are associated with dsDNA synthesis by HIV-1 RT and appear to efficiently bind to F-actin filaments, a property that may be involved in targeting complexes to the nuclear envelope PubMed
    gag Mature HIV-1 Nucleocapsid, as well as the nucleocapsid domain of the HIV-1 Gag polyprotein, binds filamentous actin resulting in incorporation of actin into virus particles and enhancement of cell motility PubMed
    retropepsin gag-pol HIV-1 protease cleaves actin in vitro at amino acid residues 7-8, 66-67, 94-95, 105-106, 126-127, and 296-297 PubMed
    gag-pol Actin, one of the most abundant proteins of the cell, is hydrolyzed by the human immunodeficiency virus type 1 (HIV-1) protease during acute infection of cultured human T lymphocytes PubMed
    reverse transcriptase gag-pol The localization of the HIV-1 reverse transcription complex to actin microfilaments is mediated by the interaction of a reverse transcription complex component (HIV-1 Matrix) with actin, but not vimentin (intermediate filaments) or tubulin (microtubules) PubMed
    gag-pol Eukaryotic beta-actin binds to either the large subunit (p66) of HIV-1 reverse transcriptase or to the HIV-1 Pol precursor polyprotein in vitro; this interaction is believed to be important for the secretion of HIV-1 virions PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    ATP-dependent chromatin remodeling HDA PubMed 
    Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
     
    adherens junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apical protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell junction assembly TAS
    Traceable Author Statement
    more info
     
    cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to cytochalasin B IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ephrin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    establishment or maintenance of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    maintenance of permeability of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane organization TAS
    Traceable Author Statement
    more info
     
    morphogenesis of a polarized epithelium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    platelet aggregation HMP PubMed 
    positive regulation of gene expression, epigenetic TAS
    Traceable Author Statement
    more info
     
    positive regulation of norepinephrine uptake TAS
    Traceable Author Statement
    more info
    PubMed 
    postsynaptic actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    protein localization to adherens junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cyclin-dependent protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of norepinephrine uptake IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of norepinephrine uptake ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    regulation of protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    retina homeostasis HEP PubMed 
    substantia nigra development HEP PubMed 
    synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    NuA4 histone acetyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NuA4 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical junction complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    blood microparticle HDA PubMed 
    calyx of Held IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cortical cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dense body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular exosome HDA PubMed 
    extracellular space HDA PubMed 
    focal adhesion HDA PubMed 
    glutamatergic synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nuclear chromatin HDA PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic actin cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    presynapse TAS
    Traceable Author Statement
    more info
    PubMed 
    protein-containing complex HDA PubMed 
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vesicle HDA PubMed 

    General protein information

    Preferred Names
    actin, cytoplasmic 1
    Names
    I(2)-actin
    PS1TP5-binding protein 1
    beta cytoskeletal actin

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007992.1 RefSeqGene

      Range
      5001..8454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_132

    mRNA and Protein(s)

    1. NM_001101.5NP_001092.1  actin, cytoplasmic 1

      See identical proteins and their annotated locations for NP_001092.1

      Status: REVIEWED

      Source sequence(s)
      AK130157, BC009636
      Consensus CDS
      CCDS5341.1
      UniProtKB/Swiss-Prot
      P60709
      UniProtKB/TrEMBL
      Q1KLZ0
      Related
      ENSP00000494750.1, ENST00000646664.1
      Conserved Domains (1) summary
      PTZ00281
      Location:1375
      PTZ00281; actin; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      5527148..5530601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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