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ACTG1 actin gamma 1 [ Homo sapiens (human) ]

Gene ID: 71, updated on 1-Aug-2020

Summary

Official Symbol
ACTG1provided by HGNC
Official Full Name
actin gamma 1provided by HGNC
Primary source
HGNC:HGNC:144
See related
Ensembl:ENSG00000184009 MIM:102560
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]
Expression
Ubiquitous expression in ovary (RPKM 1227.2), esophagus (RPKM 970.4) and 25 other tissues See more
Orthologs

Genomic context

See ACTG1 in Genome Data Viewer
Location:
17q25.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (81509971..81512799, 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 long intergenic non-protein coding RNA 1971 Neighboring gene CRISPRi-validated cis-regulatory element chr17.6006 Neighboring gene fascin actin-bundling protein 2, retinal Neighboring gene FA core complex associated protein 100

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?

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 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
profilin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton IC
Inferred by Curator
more info
PubMed 
structural constituent of postsynaptic actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
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
 
angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell junction assembly TAS
Traceable Author Statement
more info
 
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
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 
platelet aggregation HMP PubMed 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of wound healing IMP
Inferred from Mutant Phenotype
more info
PubMed 
postsynaptic actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
protein localization to bicellular tight junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
retina homeostasis HEP PubMed 
sarcomere organization IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
 
tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament IDA
Inferred from Direct Assay
more info
PubMed 
apical junction complex IDA
Inferred from Direct Assay
more info
PubMed 
blood microparticle HDA PubMed 
calyx of Held IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction 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 exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 
filamentous actin IEA
Inferred from Electronic Annotation
more info
 
focal adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane HDA PubMed 
myofibril IEA
Inferred from Electronic Annotation
more info
 
nucleus HDA PubMed 
phagocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
actin, cytoplasmic 2
Names
cytoskeletal gamma-actin
epididymis luminal protein 176

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_011433.1 RefSeqGene

    Range
    5003..7831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199954.2NP_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
    Consensus CDS
    CCDS11782.1
    UniProtKB/Swiss-Prot
    P63261
    Related
    ENSP00000493648.1, ENST00000644774.1
    Conserved Domains (1) summary
    PTZ00281
    Location:1375
    PTZ00281; actin; Provisional
  2. NM_001614.5NP_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, X04098
    Consensus CDS
    CCDS11782.1
    UniProtKB/Swiss-Prot
    P63261
    Related
    ENSP00000458435.1, ENST00000573283.7
    Conserved Domains (1) summary
    PTZ00281
    Location:1375
    PTZ00281; actin; Provisional

RNA

  1. NR_037688.3 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    81509971..81512799 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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