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    ACTG1 actin, gamma 1 [ Homo sapiens (human) ]

    Gene ID: 71, updated on 10-Jun-2013
    Official Symbol
    ACTG1provided by HGNC
    Official Full Name
    actin, gamma 1provided by HGNC
    Primary source
    HGNC:144
    See related
    Ensembl:ENSG00000184009; HPRD:00017; 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; BRWS2; DFNA20; DFNA26
    Summary
    Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three 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 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 non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
    Location :
    17q25
    Sequence :
    Chromosome: 17; NC_000017.10 (79476997..79479892, complement)
    See ACTG1 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene microRNA 4740 Neighboring gene BAH domain and coiled-coil containing 1 Neighboring gene microRNA 3186 Neighboring gene fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) Neighboring gene chromosome 17 open reading frame 70

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Solubility-based genetic screen identifies RING finger protein 126 as an E3 ligase for activation-induced cytidine deaminase. Delker RK, et al. Proc Natl Acad Sci U S A, 2013 Jan 15. PMID 23277564.
    2. SGTA recognizes a noncanonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degradation. Xu Y, et al. Cell Rep, 2012 Dec 27. PMID 23246001.
    3. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118.
    4. Virus assembly and plasma membrane domains: which came first? Kerviel A, et al. Virus Res, 2013 Feb. PMID 22989508.
    5. A high-throughput approach for measuring temporal changes in the interactome. Kristensen AR, et al. Nat Methods, 2012 Sep. PMID 22863883.

    See all (176) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data indicate beta-cytoplasmic (beta-CYA) and gamma-cytoplasmic (gamma-CYA) actins differential localization and dynamics at epithelial junctions.
      Title: Nonredundant roles of cytoplasmic β- and γ-actin isoforms in regulation of epithelial apical junctions.
    2. These results showed the biphasic F-actin dynamics in herpes simplex virus 1 neuronal infection and confirmed the association of F-actin with the changes in the expression and activity of cofilin 1.
      Title: Cofilin 1-mediated biphasic F-actin dynamics of neuronal cells affect herpes simplex virus 1 infection and replication.
    3. identified de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 in one and two probands, respectively; suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes
      Title: De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
    4. knockdown of gamma-actin significantly reduced speed of motility and severely affected the cell's ability to explore, which was, in part, due to a loss of cell polarity
      Title: γ-Actin regulates cell migration and modulates the ROCK signaling pathway.
    5. Cytoplasmic G-actin concentration is a critical parameter for determining the extent of stimulus-induced G-actin assembly and cell extension.
      Title: Measurements of spatiotemporal changes in G-actin concentration reveal its effect on stimulus-induced actin assembly and lamellipodium extension.
    6. actin participates in transcription elongation by recruiting Cdk9,a catalytic subunit of P-TEFb, for phosphorylation of the Pol II C-terminal domain, and the actin-Cdk9 interaction promotes chromatin remodeling
      Title: G-actin participates in RNA polymerase II-dependent transcription elongation by recruiting positive transcription elongation factor b (P-TEFb).
    7. This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
      Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
    8. Two novel ACTG1 missense mutations are associated with DFNA20/26 hearing impairment.
      Title: In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
    9. These results reveal new aspects of beta- and gamma-actin organization that support their functional diversity.
      Title: Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity.
    10. audiometric phenotype of the Dutch DFNA20/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20/26. All suffered from hearing loss.This is the first known DFNA20/26 family that has experienced tinnitus.
      Title: Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.
    Submit: New GeneRIF Correction See all (26)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Deafness, autosomal dominant 20

    Summary from GeneReviews: Deafness and Hereditary Hearing Loss Overview Go to GeneReviews

    Disease Characteristics
    Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems); and prelingual (before language develops) or postlingual (after language develops).
    Diagnosis Testing
    Genetic forms of hearing loss must be distinguished from acquired (non-genetic) causes of hearing loss. The genetic forms of hearing loss are diagnosed by otologic, audiologic, and physical examination, family history, ancillary testing (e.g., CT examination of the temporal bone), and molecular genetic testing. Molecular genetic testing, possible for many types of syndromic and nonsyndromic deafness, plays a prominent role in diagnosis and genetic counseling.
    Genetic Counseling
    Hereditary hearing loss can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner, as well as by mitochondrial inheritance. Genetic counseling and risk assessment depend on accurate determination of the specific genetic diagnosis. In the absence of a specific diagnosis, empiric recurrence risk figures, coupled with GJB2 and GJB6 molecular genetic testing results, can be used for genetic counseling.
    References
    Protein Gene Interaction Pubs
    Env, gp160, envelope glycoprotein 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 surface glycoprotein gp120 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 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 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 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
    Gag, Pr55 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
    Nef, p27 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
    Tat, p14 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, p15 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 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
    pol 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 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

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001605.1 NP_000292.1 PLG    BIND  PubMed PLG interacts with ACTG1 (G-actin). This interaction was modelled on a demonstrated interaction between human PLG and bovine ACTG1. 
    NP_001605.1 NP_003922.1 WASF1    BIND  PubMed WAVE-1 interacts with G-actin. This interaction was modeled on a demonstrated interaction between human WAVE-1 and rat G-actin. 
    P63261 O14639 ABLIM1    HPRD  PubMed  
    P63261 P60709 ACTB    HPRD  PubMed  
    P63261 P63261 ACTG1    HPRD  PubMed  
    P63261 P08758 ANXA5    HPRD  PubMed  
    P63261 Activating transcription factor 7 interacting protein ATF7IP    HPRD  PubMed  
    P63261 P51572 BCAP31    HPRD  PubMed  
    P63261 P40123 CAP2    HPRD  PubMed  
    P63261 Q96KX2 CAPZA3    HPRD  PubMed  
    P63261 P23528 CFL1    HPRD  PubMed  
    P63261 Q9Y281 CFL2    HPRD  PubMed  
    P63261 P04839 CYBB    HPRD  PubMed  
    P63261 P24855 DNASE1    HPRD  PubMed  
    P63261 P60981 DSTN    HPRD  PubMed  
    P63261 P63167 DYNLL1    HPRD  PubMed  
    P63261 P56537 EIF6    HPRD  PubMed  
    P63261 Q9Y613 FHOD1    HPRD  PubMed  
    P63261 P21462 FPR1    HPRD  PubMed  
    P63261 P06396 GSN    HPRD  PubMed  
    P63261 Q9UHV8 LGALS13    HPRD  PubMed  
    P63261 P33241 LSP1    HPRD  PubMed  
    P63261 P78559 MAP1A    HPRD  PubMed  
    P63261 Q9UBC5 MYO1A    HPRD  PubMed  
    P63261 P14598 NCF1    HPRD  PubMed  
    P63261 Q92597 NDRG1    HPRD  PubMed  
    P63261 P08235 NR3C2    HPRD  PubMed  
    P63261 P35080 PFN2    HPRD  PubMed  
    P63261 Q13393 PLD1    HPRD  PubMed  
    P63261 Q15149 PLEC    HPRD  PubMed  
    P63261 Q9ULJ8 PPP1R9A    HPRD  PubMed  
    P63261 O95084 PRSS23    HPRD  PubMed  
    P63261 Q16827 PTPRO    HPRD  PubMed  
    P63261 Q9Y6U3 SCIN    HPRD  PubMed  
    P63261 Q99962 SH3GL2    HPRD  PubMed  
    P63261 Q11203 ST3GAL3    HPRD  PubMed  
    P63261 Q6EEV6 SUMO4    HPRD  PubMed  
    P63261 P62328 TMSB4X    HPRD  PubMed  
    P63261 O14604 TMSB4Y    HPRD  PubMed  
    P63261 P50552 VASP    HPRD  PubMed  
    P63261 P09327 VIL1    HPRD  PubMed  
    P63261 Q92558 WASF1    HPRD  PubMed  
    BioGRID:106586 BioGRID:106573 ACTA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:106575 ACTB    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:131362 ACTBL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:106586 ACTG1    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:121497 AICDA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106586 BioGRID:106845 APOE    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:115437 BCAP31    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106586 BioGRID:107140 BRCA1    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:120947 BRK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:115750 CAP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106586 BioGRID:115749 CAP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106586 BioGRID:107434 CDH1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106586 BioGRID:107463 CDKN2A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:107499 CFL1    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:107500 CFL2    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106586 BioGRID:107870 CTBP2    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:107881 CTNND1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106586 BioGRID:118061 DISC1    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:121004 DMAP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:116223 DSTN    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:109898 EIF6    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:120218 EPS8L1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106586 BioGRID:122297 EPS8L2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106586 BioGRID:122721 EPS8L3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106586 BioGRID:117646 FBXO25    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:114997 FEZ1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106586 BioGRID:118877 FHOD1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106586 BioGRID:115154 GIT2    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:109256 GZMA    BioGRID  PubMed Biochemical Activity 
    BioGRID:106586 BioGRID:109258 GZMK    BioGRID  PubMed Biochemical Activity 
    BioGRID:106586 BioGRID:109552 HSP90AA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:109558 HSP90AB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:109822 ILF3    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:106586 BioGRID:109883 ITGA4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:115779 KAT5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:110169 LIG4    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:125700 LRRK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:111583 MAPK6    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:110357 MDK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:121122 MEPCE    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:110438 MLH1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106586 BioGRID:116134 MORF4L1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:115001 MORF4L2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:120548 MRGBP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:110736 MYOC    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:115669 NDRG1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:111238 PFN2    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:111456 POU5F1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:106586 BioGRID:111495 PPP1CC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:116279 PRSS23    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:111643 PSEN2    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:115301 RBX1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:114676 RPS6KA5    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:114166 RUVBL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:116067 RUVBL2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:112353 SH3GL2    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:112550 SP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:112379 ST3GAL3    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:113188 SUMO1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:132223 SUMO4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:112969 TMSB4X    BioGRID  PubMed Co-crystal Structure; Reconstituted Complex 
    BioGRID:106586 BioGRID:116682 TNIK    BioGRID  PubMed Two-hybrid 
    BioGRID:106586 BioGRID:117577 TRAF3IP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:123267 TSGA10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:106586 BioGRID:124986 UBE2Q2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:113885 UBL4A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:119509 UCHL5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:113366 YWHAZ    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106586 BioGRID:1205537 gag    BioGRID  PubMed FRET 
    • Adherens junction, organism-specific biosystem (from KEGG)
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    • Adherens junction, conserved biosystem (from KEGG)
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    • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
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    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
      Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
    • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
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    • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
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    • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
      Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
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    • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
      Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
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    • Focal adhesion, conserved biosystem (from KEGG)
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    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
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    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
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    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Influenza A, organism-specific biosystem (from KEGG)
      Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Influenza A, conserved biosystem (from KEGG)
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    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
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    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Pathogenic Escherichia coli infection, organism-specific biosystem (from KEGG)
      Pathogenic Escherichia coli infection, organism-specific biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • Pathogenic Escherichia coli infection, organism-specific biosystem (from WikiPathways)
      Pathogenic Escherichia coli infection, organism-specific biosystemSources: [http://www.genome.jp/kegg/pathway/hsa/hsa05130.html KEGG]
    • Pathogenic Escherichia coli infection, conserved biosystem (from KEGG)
      Pathogenic Escherichia coli infection, conserved biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • Phagosome, organism-specific biosystem (from KEGG)
      Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Phagosome, conserved biosystem (from KEGG)
      Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
      Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
    • Salmonella infection, organism-specific biosystem (from KEGG)
      Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Salmonella infection, conserved biosystem (from KEGG)
      Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Shigellosis, organism-specific biosystem (from KEGG)
      Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
      Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
    • Vibrio cholerae infection, conserved biosystem (from KEGG)
      Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
    • Viral myocarditis, organism-specific biosystem (from KEGG)
      Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...

    Markers

    Genotypes

    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 
    Process Evidence Code Pubs
    Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
    		  
    adherens junction organization TAS
    Traceable Author Statement
    more info
    		  
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    cell junction assembly TAS
    Traceable Author Statement
    more info
    		  
    cell-cell junction organization TAS
    Traceable Author Statement
    more info
    		  
    cellular component movement TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cellular membrane organization TAS
    Traceable Author Statement
    more info
    		  
    innate immune response TAS
    Traceable Author Statement
    more info
    		  
    sarcomere organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    extracellular vesicular exosome IDA
    Inferred from Direct Assay
    more info
    		  
    filamentous actin IEA
    Inferred from Electronic Annotation
    more info
    		  
    myofibril IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    actin, cytoplasmic 2
    Names
    actin, cytoplasmic 2
    cytoskeletal gamma-actin

    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_001199954.1 → NP_001186883.1  actin, cytoplasmic 2

      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, OTTHUMP00000258176, ENST00000573283, OTTHUMT00000439922
      Conserved Domains (2) summary
      pfam00022
      Location:3 – 375
      Blast Score: 1707
      Actin; Actin
      cd00012
      Location:8 – 181
      Blast Score: 215
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    2. NM_001614.3 → NP_001605.1  actin, cytoplasmic 2

      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, OTTHUMP00000258171, ENST00000331925, OTTHUMT00000439911
      Conserved Domains (2) summary
      pfam00022
      Location:3 – 375
      Blast Score: 1707
      Actin; Actin
      cd00012
      Location:8 – 181
      Blast Score: 215
      NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily

    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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_003871087.1 Reference GRCh37.p10 PATCHES

      Range
      164609..167504, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p10 Primary Assembly

      Range
      79476997..79479892, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      74925813..74928708, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018928.1 Alternate CHM1_1.0

      Range
      80590019..80593004, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01032150.1 (3930..6825) None
    genomic AC139149.6 (18621..21449) None
    genomic AMYH01008714.1 (63109..65938) None
    genomic AMYH01008715.1 None
    genomic AY970363.1 AAX82173.1
    genomic AY970364.1 AAX82174.1
    genomic AY970365.1 AAX82175.1
    genomic AY970366.1 AAX82176.1
    genomic AY970367.1 AAX82177.1
    genomic AY970368.1 AAX82178.1
    genomic AY970369.1 AAX82179.1
    genomic AY970370.1 AAX82180.1
    genomic AY970371.1 AAX82181.1
    genomic AY970372.1 AAX82182.1
    genomic AY970374.1 AAX82183.1
    genomic AY970375.1 AAX82184.1
    genomic AY970376.1 AAX82185.1
    genomic AY970377.1 AAX82186.1
    genomic AY970380.1 AAX82189.1
    genomic AY970381.1 AAX82190.1
    genomic AY970382.1 AAX82191.1
    genomic AY970383.1 AAX82192.1
    genomic AY970402.1 AAX82211.1
    genomic AY970403.1 AAX82212.1
    genomic AY970404.1 AAX82213.1
    genomic AY970405.1 AAX82214.1
    genomic AY970406.1 AAX82215.1
    genomic AY970407.1 AAX82216.1
    genomic AY970408.1 AAX82217.1
    genomic AY970409.1 AAX82218.1
    genomic AY970410.1 AAX82219.1
    genomic AY970411.1 AAX82220.1
    genomic AY970412.1 AAX82221.1
    genomic AY970413.1 AAX82222.1
    genomic AY970414.1 AAX82223.1
    genomic AY970415.1 AAX82224.1
    genomic AY970416.1 AAX82225.1
    genomic AY970417.1 AAX82226.1
    genomic AY970418.1 AAX82227.1
    genomic AY970419.1 AAX82228.1
    genomic AY970420.1 AAX82229.1
    genomic AY970421.1 AAX82230.1
    genomic AY970441.1 AAX82250.1
    genomic AY970443.1 AAX82252.1
    genomic AY970444.1 AAX82253.1
    genomic AY970468.1 AAX82274.1
    genomic AY970469.1 AAX82275.1
    genomic AY970470.1 AAX82276.1
    genomic AY970471.1 AAX82277.1
    genomic AY970472.1 AAX82278.1
    genomic AY970473.1 AAX82279.1
    genomic AY970474.1 AAX82280.1
    genomic AY970475.1 AAX82281.1
    genomic AY970476.1 AAX82282.1
    genomic AY970477.1 AAX82283.1
    genomic AY970478.1 AAX82284.1
    genomic AY970483.1 AAX82289.1
    genomic AY970485.1 AAX82291.1
    genomic AY970486.1 AAX82292.1
    genomic AY970487.1 AAX82293.1
    genomic AY970488.1 AAX82294.1
    genomic AY970489.1 AAX82295.1
    genomic AY970490.1 AAX82296.1
    genomic AY970491.1 AAX82297.1
    genomic AY970492.1 AAX82298.1
    genomic AY970493.1 AAX82299.1
    genomic AY970494.1 AAX82300.1
    genomic AY970495.1 AAX82301.1
    genomic AY970496.1 AAX82302.1
    genomic AY970497.1 AAX82303.1
    genomic AY970498.1 AAX82304.1
    genomic AY970499.1 AAX82305.1
    genomic AY970500.1 AAX82306.1
    genomic AY970501.1 AAX82307.1
    genomic HC250969.1 CBJ05782.1
    genomic HC311158.1 CBJ21234.1
    genomic M19283.1 AAA51579.1
    mRNA AK291937.1 BAF84626.1
    mRNA AK301175.1 BAG62762.1
    mRNA AK304637.1 BAG65416.1
    mRNA BC000292.2 AAH00292.1
    mRNA BC001920.1 AAH01920.1
    mRNA BC004223.2 AAH04223.2
    mRNA BC007442.2 AAH07442.1
    mRNA BC009544.1 AAH09544.1
    mRNA BC009848.2 AAH09848.1
    mRNA BC010417.2 AAH10417.2
    mRNA BC010999.2 AAH10999.1
    mRNA BC012050.1 AAH12050.1
    mRNA BC015005.1 AAH15005.1
    mRNA BC015695.2 AAH15695.1
    mRNA BC015779.1 AAH15779.1
    mRNA BC017450.1 AAH17450.1
    mRNA BC018774.1 AAH18774.1
    mRNA BC018861.2 None
    mRNA BC023548.2 AAH23548.1
    mRNA BC039144.1 None
    mRNA BC053572.1 AAH53572.1
    mRNA BC063495.1 None
    mRNA BT019856.1 AAV38659.1
    mRNA DB455954.1 None
    mRNA M16247.1 AAA51580.1
    mRNA X04098.1 CAA27723.1
    other-genetic DQ891374.2 ABM82300.1
    other-genetic EU176631.1 ABW03432.1
    other-genetic EU832621.1 ACE87712.1
    other-genetic EU832693.1 ACE87025.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P63261.1 GenPept UniProtKB/Swiss-Prot:P63261

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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