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    ACTA1 actin, alpha 1, skeletal muscle [ Homo sapiens (human) ]

    Gene ID: 58, updated on 5-Nov-2017
    Official Symbol
    ACTA1provided by HGNC
    Official Full Name
    actin, alpha 1, skeletal muscleprovided by HGNC
    Primary source
    HGNC:HGNC:129
    See related
    Ensembl:ENSG00000143632 MIM:102610; Vega:OTTHUMG00000038006
    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
    ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM
    Summary
    The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in heart (RPKM 1670.9), esophagus (RPKM 297.6) and 1 other tissue See more
    Orthologs
    Location:
    1q42.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (229431245..229434096, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (229566992..229569858, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 180, pseudogene Neighboring gene RNA, 7SK small nuclear pseudogene 276 Neighboring gene nucleoporin 133 Neighboring gene uncharacterized LOC101927478

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env CCR5 expression inhibits HIV-1 gp120-mediated early actin rearrangement in CD4/CXCR4 expressing 293T cells PubMed
    env SMS2 is involved in HIV-1 gp120-induced phosphorylation and activation of PYK2 and reorganization and polymerization of F-actin 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 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 Inducible T-cell kinase (ITK) affects viral entry and gp120-induced actin reorganization PubMed
    env NHERF1 is required for HIV-1 gp120-induced actin rearrangement 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 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
    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 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
    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 stabilizes podosomes and enhances the size of the F-actin core in human monocyte-derived macrophages 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 co-localizes with F-actin and reorganizes F-actin assembly in the cortical regions of human podocyte PubMed
    nef HIV-1 Nef induces loss of F-actin assembly and inhibits retinoid receptor-mediated transcription PubMed
    nef The HIV-1 Nef highly conserved valine-glycine-phenylalanine amino acid triplet (VGF) motif is essential for effects of Nef on actin dynamics and Lck localization PubMed
    nef HIV-1 Nef requires a PAK2 recruitment motif (F195/191I) for inhibition of actin remodeling and induction of cofilin hyperphosphorylation PubMed
    nef HIV-1 Nef disrupts F-actin at the cortical actin ring in both insulin-unstimulated and stimulated adipocytes PubMed
    Pr55(Gag) gag No major differences in relative actin incorporation between wild-type HIV-1 and Gag virus-like particles (VLPs) and between Gag and Gag(LZ) VLPs, indicating that the NC domain of Gag is not required for actin incorporation into HIV-1 PubMed
    gag HIV-1 Gag assembly proceeds with normal rates when actin filaments are either disrupted or stabilized in cells, indicating that the actin network is dispensable for HIV-1 assembly PubMed
    gag HIV-1 Gag assembly and budding occur through an actin-driven mechanism 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 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
    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 Endothelial cell adherent to HIV-1 Tat induces rearrangement of actin cytoskeleton and is dependent on integrin alpha5beta3 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 Most of the components of the SWI2/SNF2 chromatin remodeling complex (BRG1/BRM, BAF250, BAF180, BAF170, BAF155, BAF60a, BAF53A, actin and InI) except BRM, BAF155 and BAF57, are identified to interact with HIV-1 Tat in Jurkat cell PubMed
    tat Signaling from multivalent TatP facilitates the frequent and constitutive recruitment of TatR to actin-associated membrane lipid-rafts 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
    matrix gag HIV-1 MA co-localizes with beta2 integrin, alphaM and alphaX integrins in the intracellular thick electron-dense membrane compartments, which contain talin, vinculin and paxillin that connect the integrin complexes to the actin cytoskeleton PubMed
    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 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
    gag-pol HIV-1 protease cleaves actin in vitro at amino acid residues 66-67, 94-95, and 126-127 PubMed
    reverse transcriptase gag-pol 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-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

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ADP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    ATP binding TAS
    Traceable Author Statement
    more info
    PubMed 
    myosin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to organonitrogen compound IEA
    Inferred from Electronic Annotation
    more info
     
    mesenchyme migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to extracellular stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to lithium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to steroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle fiber adaptation IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle thin filament assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    striated muscle thin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    actin, alpha skeletal muscle
    Names
    nemaline myopathy type 3

    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_006672.1 RefSeqGene

      Range
      5001..7852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_429

    mRNA and Protein(s)

    1. NM_001100.3NP_001091.1  actin, alpha skeletal muscle

      See identical proteins and their annotated locations for NP_001091.1

      Status: REVIEWED

      Source sequence(s)
      AL598491, BC012597, BX648545
      Consensus CDS
      CCDS1578.1
      UniProtKB/Swiss-Prot
      P68133
      Related
      ENSP00000355645.3, OTTHUMP00000036123, ENST00000366684.7, OTTHUMT00000092781
      Conserved Domains (1) summary
      PTZ00281
      Location:4377
      PTZ00281; actin; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      229431245..229434096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      230839339..230842183 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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