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    ACTG1 actin gamma 1 [ Homo sapiens (human) ]

    Gene ID: 71, updated on 6-Sep-2017
    Official Symbol
    ACTG1provided by HGNC
    Official Full Name
    actin gamma 1provided by HGNC
    Primary source
    HGNC:HGNC:144
    See related
    Ensembl:ENSG00000184009 MIM:102560; Vega:OTTHUMG00000177955
    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
    ACT; ACTG; DFNA20; DFNA26; HEL-176
    Summary
    Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
    Orthologs
    Location:
    17q25.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (81509971..81512866, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79476997..79479892, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BAH domain and coiled-coil containing 1 Neighboring gene uncharacterized LOC105371926 Neighboring gene long intergenic non-protein coding RNA 1971 Neighboring gene fascin actin-bundling protein 2, retinal Neighboring gene Fanconi anemia core complex associated protein 100

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 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
    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 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 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 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
    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
    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 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, gamma 1 (ACTG1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    vpr HIV-1 Vpr-expressing Jurkat T cell clones showed a significant increase in G-actin polymerization to filamentous actin (F-actin), indicating a role of Vpr in microfilament system assembly. Vpr also causes disruption of the actin cytoskeleton in yeast. 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 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

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      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
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      Regulation of actin cytoskeleton
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    • Vibrio cholerae infection, conserved biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of cytoskeleton IC
    Inferred by Curator
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
     
    cell junction assembly TAS
    Traceable Author Statement
    more info
     
    ephrin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    movement of cell or subcellular component TAS
    Traceable Author Statement
    more info
    PubMed 
    platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retina homeostasis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    sarcomere organization IEA
    Inferred from Electronic Annotation
    more info
     
    vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    blood microparticle 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    filamentous actin IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    myofibril IEA
    Inferred from Electronic Annotation
    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
     
    Preferred Names
    actin, cytoplasmic 2
    Names
    cytoskeletal gamma-actin
    epididymis luminal protein 176

    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_011433.1 RefSeqGene

      Range
      4936..7831
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199954.1NP_001186883.1  actin, cytoplasmic 2

      See identical proteins and their annotated locations for NP_001186883.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC139149, BC063495, DB455954
      Consensus CDS
      CCDS11782.1
      UniProtKB/Swiss-Prot
      P63261
      Related
      ENSP00000458435.1, OTTHUMP00000258176, ENST00000573283.5, OTTHUMT00000439922
      Conserved Domains (1) summary
      PTZ00281
      Location:1375
      PTZ00281; actin; Provisional
    2. NM_001614.3NP_001605.1  actin, cytoplasmic 2

      See identical proteins and their annotated locations for NP_001605.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC063495, DB455954, X04098
      Consensus CDS
      CCDS11782.1
      UniProtKB/Swiss-Prot
      P63261
      Related
      ENSP00000331514.2, OTTHUMP00000258171, ENST00000331925.6, OTTHUMT00000439911
      Conserved Domains (1) summary
      PTZ00281
      Location:1375
      PTZ00281; actin; Provisional

    RNA

    1. NR_037688.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate splice site in the 3' UTR, compared to variant 1, which makes the transcript a candidate for nonsense-mediated mRNA decay (NMD). Transcripts subjected to NMD are degraded prior to protein translation. The transcript is sufficiently abundant to represent as a RefSeq record though a predicted protein is not represented.
      Source sequence(s)
      AC139149, BC063495, DB455954
      Related
      ENST00000576917.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      81509971..81512866 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      79563278..79566173 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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