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Gene Review

ACTG1  -  actin gamma 1

Homo sapiens

Synonyms: ACT, ACTG, Actin, cytoplasmic 2, BRWS2, DFNA20, ...
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Disease relevance of ACTG1

  • A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) [1].
  • This purified yeast CCT was used for a novel quantitative actin-folding assay with human beta-actin or yeast ACT1p protein folding intermediates, Ac(I), pre-synthesised in an Escherichia coli translation system [2].
  • Immunohistochemical analysis revealed that alpha-enolase and beta-actin were present at extremely low levels in the epithelial superficial and wing cells of the keratoconus corneas compared to these cells of normal corneas [3].
  • 5. We now show that plasminogen binds to prostate cancer cells and that the binding colocalizes with surface beta-actin, but AS4.5 does not bind to the cell surface [4].
  • To test this hypothesis, rAAV vectors containing the hAAT cDNA driven by either the human elongation factor 1 alpha promoter, the human cytomegalovirus immediate-early promoter (CMV), or the CMV-chicken beta actin hybrid (CB) promoter were injected into the portal or tail veins of adult C57Bl/6 mice [5].

High impact information on ACTG1


Chemical compound and disease context of ACTG1


Biological context of ACTG1


Anatomical context of ACTG1

  • The 6-cM critical region harboured the gamma-1-actin (ACTG1) gene, which was considered an attractive candidate gene because actins are important structural elements of the inner ear hair cells [1].
  • Two other cytoskeletal proteins, beta-actin and alpha-tubulin, clustered at the cell leading edge and uropod, respectively, of polarized lymphocytes [19].
  • While beta-actin concentrates preferentially at the cell's leading edge, the motor protein myosin II and a microtubule organizing center (MTOC) are packed in the uropod [20].
  • Coimmunoprecipitation experiments using HSMCs, NIH-3T3 cells, and human prostate tissue lysates further demonstrated that HDAC8 associates with alpha-SMA but not with beta-actin [21].
  • CONCLUSIONS: The results showed relatively low or negligible levels of alpha-enolase and beta-actin in the wing and superficial epithelial cells of keratoconus corneas compared to normal corneas [3].

Associations of ACTG1 with chemical compounds


Physical interactions of ACTG1


Regulatory relationships of ACTG1


Other interactions of ACTG1


Analytical, diagnostic and therapeutic context of ACTG1


  1. A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). van Wijk, E., Krieger, E., Kemperman, M.H., De Leenheer, E.M., Huygen, P.L., Cremers, C.W., Cremers, F.P., Kremer, H. J. Med. Genet. (2003) [Pubmed]
  2. Quantitative actin folding reactions using yeast CCT purified via an internal tag in the CCT3/gamma subunit. Pappenberger, G., McCormack, E.A., Willison, K.R. J. Mol. Biol. (2006) [Pubmed]
  3. Molecular changes in selected epithelial proteins in human keratoconus corneas compared to normal corneas. Srivastava, O.P., Chandrasekaran, D., Pfister, R.R. Mol. Vis. (2006) [Pubmed]
  4. Differential binding of plasminogen, plasmin, and angiostatin4.5 to cell surface beta-actin: implications for cancer-mediated angiogenesis. Wang, H., Doll, J.A., Jiang, K., Cundiff, D.L., Czarnecki, J.S., Wilson, M., Ridge, K.M., Soff, G.A. Cancer Res. (2006) [Pubmed]
  5. Stable therapeutic serum levels of human alpha-1 antitrypsin (AAT) after portal vein injection of recombinant adeno-associated virus (rAAV) vectors. Song, S., Embury, J., Laipis, P.J., Berns, K.I., Crawford, J.M., Flotte, T.R. Gene Ther. (2001) [Pubmed]
  6. Toxoplasmic encephalitis in patients with the acquired immunodeficiency syndrome. Members of the ACTG 077p/ANRS 009 Study Team. Luft, B.J., Hafner, R., Korzun, A.H., Leport, C., Antoniskis, D., Bosler, E.M., Bourland, D.D., Uttamchandani, R., Fuhrer, J., Jacobson, J. N. Engl. J. Med. (1993) [Pubmed]
  7. Health status and function with zidovudine or zalcitabine as initial therapy for AIDS. A randomized controlled trial. Roche 3300/ACTG 114 Study Group. Bozzette, S.A., Kanouse, D.E., Berry, S., Duan, N. JAMA (1995) [Pubmed]
  8. Hair Bundles Are Specialized for ATP Delivery via Creatine Kinase. Shin, J.B., Streijger, F., Beynon, A., Peters, T., Gadzala, L., McMillen, D., Bystrom, C., Van der Zee, C.E., Wallimann, T., Gillespie, P.G. Neuron (2007) [Pubmed]
  9. Viral kinetics in hepatitis C or hepatitis C/human immunodeficiency virus-infected patients. Sherman, K.E., Shire, N.J., Rouster, S.D., Peters, M.G., James Koziel, M., Chung, R.T., Horn, P.S. Gastroenterology (2005) [Pubmed]
  10. Didanosine and ACTG 116A. Higgins, S., Woolley, P.D., Chandiok, S. Lancet (1993) [Pubmed]
  11. Identification and characterization of a tannic acid-responsive negative regulatory element in the mouse mammary tumor virus promoter. Uchiumi, F., Sato, T., Tanuma, S. J. Biol. Chem. (1998) [Pubmed]
  12. Thai Red Cross zidovudine donation program to prevent vertical transmission of HIV: the effect of the modified ACTG 076 regimen. Thisyakorn, U., Khongphatthanayothin, M., Sirivichayakul, S., Rongkavilit, C., Poolcharoen, W., Kunanusont, C., Bien, D.D., Phanuphak, P. AIDS (2000) [Pubmed]
  13. Phase II dose-ranging trial of foscarnet salvage therapy for cytomegalovirus retinitis in AIDS patients intolerant of or resistant to ganciclovir (ACTG protocol 093). AIDS Clinical Trials Group of the National Institute of Allergy and Infectious Diseases. Jacobson, M.A., Wulfsohn, M., Feinberg, J.E., Davis, R., Power, M., Owens, S., Causey, D., Heath-Chiozzi, M.E., Murphy, R.L., Cheung, T.W. AIDS (1994) [Pubmed]
  14. The pharmacokinetics of amprenavir, zidovudine, and lamivudine in the genital tracts of men infected with human immunodeficiency virus type 1 (AIDS clinical trials group study 850). Pereira, A.S., Smeaton, L.M., Gerber, J.G., Acosta, E.P., Snyder, S., Fiscus, S.A., Tidwell, R.R., Gulick, R.M., Murphy, R.L., Eron, J.J. J. Infect. Dis. (2002) [Pubmed]
  15. Delavirdine susceptibilities and associated reverse transcriptase mutations in human immunodeficiency virus type 1 isolates from patients in a phase I/II trial of delavirdine monotherapy (ACTG 260). Demeter, L.M., Shafer, R.W., Meehan, P.M., Holden-Wiltse, J., Fischl, M.A., Freimuth, W.W., Para, M.F., Reichman, R.C. Antimicrob. Agents Chemother. (2000) [Pubmed]
  16. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Zhu, M., Yang, T., Wei, S., DeWan, A.T., Morell, R.J., Elfenbein, J.L., Fisher, R.A., Leal, S.M., Smith, R.J., Friderici, K.H. Am. J. Hum. Genet. (2003) [Pubmed]
  17. FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. Ueyama, H., Inazawa, J., Nishino, H., Ohkubo, I., Miwa, T. Cytogenet. Cell Genet. (1996) [Pubmed]
  18. A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25. Morell, R.J., Friderici, K.H., Wei, S., Elfenbein, J.L., Friedman, T.B., Fisher, R.A. Genomics (2000) [Pubmed]
  19. Moesin interacts with the cytoplasmic region of intercellular adhesion molecule-3 and is redistributed to the uropod of T lymphocytes during cell polarization. Serrador, J.M., Alonso-Lebrero, J.L., del Pozo, M.A., Furthmayr, H., Schwartz-Albiez, R., Calvo, J., Lozano, F., Sánchez-Madrid, F. J. Cell Biol. (1997) [Pubmed]
  20. The two poles of the lymphocyte: specialized cell compartments for migration and recruitment. del Pozo, M.A., Nieto, M., Serrador, J.M., Sancho, D., Vicente-Manzanares, M., Martínez, C., Sánchez-Madrid, F. Cell Adhes. Commun. (1998) [Pubmed]
  21. Histone deacetylase HDAC8 associates with smooth muscle alpha-actin and is essential for smooth muscle cell contractility. Waltregny, D., Glénisson, W., Tran, S.L., North, B.J., Verdin, E., Colige, A., Castronovo, V. FASEB J. (2005) [Pubmed]
  22. Redox regulation of surface protein thiols: identification of integrin alpha-4 as a molecular target by using redox proteomics. Laragione, T., Bonetto, V., Casoni, F., Massignan, T., Bianchi, G., Gianazza, E., Ghezzi, P. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  23. Regulation of mRNAs for type-1 plasminogen activator inhibitor, fibronectin, and type I procollagen by transforming growth factor-beta. Divergent responses in lung fibroblasts and carcinoma cells. Keski-Oja, J., Raghow, R., Sawdey, M., Loskutoff, D.J., Postlethwaite, A.E., Kang, A.H., Moses, H.L. J. Biol. Chem. (1988) [Pubmed]
  24. beta-Tubulin Is a More Suitable Internal Control than beta-Actin in Western Blot Analysis of Spinal Cord Tissues after Traumatic Injury. Liu, N.K., Xu, X.M. J. Neurotrauma (2006) [Pubmed]
  25. Role of the phosphatidylinositol 3-kinase and mTOR pathways in the regulation of renal fibroblast function and differentiation. Winbanks, C.E., Grimwood, L., Gasser, A., Darby, I.A., Hewitson, T.D., Becker, G.J. Int. J. Biochem. Cell Biol. (2007) [Pubmed]
  26. Expression and activity of urokinase and its receptor in endothelial and pulmonary epithelial cells exposed to asbestos. Barchowsky, A., Roussel, R.R., Krieser, R.J., Mossman, B.T., Treadwell, M.D. Toxicol. Appl. Pharmacol. (1998) [Pubmed]
  27. Annexin V relocates to the platelet cytoskeleton upon activation and binds to a specific isoform of actin. Tzima, E., Trotter, P.J., Orchard, M.A., Walker, J.H. Eur. J. Biochem. (2000) [Pubmed]
  28. Stable expression of human tissue-type plasminogen activator regulated by beta-actin promoter in three human cell lines: HeLa, WI-38 VA13 and KMS-5. Morishita, H., Nakamura, N., Yamakawa, T., Ogino, H., Kanamori, T., Nobuhara, M., Namba, M. Biochim. Biophys. Acta (1991) [Pubmed]
  29. Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. Tubb, B.E., Bardien-Kruger, S., Kashork, C.D., Shaffer, L.G., Ramagli, L.S., Xu, J., Siciliano, M.J., Bryan, J. Genomics (2000) [Pubmed]
  30. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. Mustapha, M., Chouery, E., Torchard-Pagnez, D., Nouaille, S., Khrais, A., Sayegh, F.N., Mégarbané, A., Loiselet, J., Lathrop, M., Petit, C., Weil, D. Hum. Genet. (2002) [Pubmed]
  31. Reduction of thymosin beta4 and actin in HL60 cells during apoptosis is preceded by a decrease of their mRNAs. Müller, C.S., Huff, T., Hannappel, E. Mol. Cell. Biochem. (2003) [Pubmed]
  32. Thymidylate synthase expression in oral squamous cell carcinoma predicts response to S-1. Harada, K., Kawashima, Y., Yoshida, H., Sato, M. Oncol. Rep. (2006) [Pubmed]
  33. Validity of messenger RNA expression analyses of human saliva. Kumar, S.V., Hurteau, G.J., Spivack, S.D. Clin. Cancer Res. (2006) [Pubmed]
  34. Synthesis and secretion of plasminogen activator inhibitor 1 by human endothelial cells in vitro. Effect of active site mutagenized tissue-type plasminogen activator. Bartha, K., Declerck, P.J., Moreau, H., Nelles, L., Collen, D. J. Biol. Chem. (1991) [Pubmed]
  35. Transforming growth factor beta1 in the human endometrium. Cyclic variation, increased expression by estradiol and progesterone, and regulation of plasminogen activators and plasminogen activator inhibitor-1. Casslén, B., Sandberg, T., Gustavsson, B., Willén, R., Nilbert, M. Biol. Reprod. (1998) [Pubmed]
  36. Characterization of the phenotype of smooth muscle cells in human fetal aorta on the basis of ultrastructure, immunofluorescence, and the composition of cytoskeletal and cytocontractile proteins. Nikkari, S.T., Rantala, I., Pystynen, P., Nikkari, T. Atherosclerosis (1988) [Pubmed]
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