Skip to main content
SpringerLink
Log in

Actinin Family

  • Reference work entry
  • First Online:
Book cover Encyclopedia of Signaling Molecules

  • 104 Accesses

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 4,499.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 4,499.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Abbreviations

ABD:

Actin-binding domain

CAM:

Calmodulin like

CH:

Calponin homology

CMTP:

Congenital macrothrombocytopenia

CNS:

Central nervous system

DCM:

Dilated cardiomyopathy

FSGS:

Focal segmental glomerulosclerosis

HCM:

Hypertrophic cardiomyopathy

LDB3:

LIM domain-binding protein 3

RIL:

Reversion-induced LIM protein

SLR:

Spectrin-like repeats

ZASP:

Z-band alternatively spliced PDZ-motif protein

References

  • Berman Y, North KN. A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism. Physiology (Bethesda). 2010;25:250–9. doi:10.1152/physiol.00008.2010.

    Article  CAS  Google Scholar 

  • Blanchard A, Ohanian V, Critchley D. The structure and function of alpha-actinin. J Muscle Res Cell Motil. 1989;10:280–9.

    Article  PubMed  CAS  Google Scholar 

  • Bottega R, Marconi C, Faleschini M, Baj G, Cagioni C, Pecci A, et al. ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. Blood. 2015;125:869–72. doi:10.1182/blood-2014-08-594531.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Djinovic-Carugo K, Gautel M, Ylanne J, Young P. The spectrin repeat: a structural platform for cytoskeletal protein assemblies. FEBS Lett. 2002;513:119–23.

    Article  PubMed  CAS  Google Scholar 

  • Ebashi S, Ebashi F, Maruyama K. A new protein factor promoting contraction of actomyosin. Nature. 1964;203:645–6.

    Article  PubMed  CAS  Google Scholar 

  • Feng D, DuMontier C, Pollak MR. The role of alpha-actinin-4 in human kidney disease. Cell Biosci. 2015;5:44. doi:10.1186/s13578-015-0036-8.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Foley KS, Young PW. An analysis of splicing, actin-binding properties, heterodimerization and molecular interactions of the non-muscle alpha-actinins. Biochem J. 2013;452:477–88. doi:10.1042/BJ20121824.

    Article  PubMed  CAS  Google Scholar 

  • Foley KS, Young PW. The non-muscle functions of actinins: an update. Biochem J. 2014;459:1–13. doi:10.1042/BJ20131511.

    Article  PubMed  CAS  Google Scholar 

  • Fukumoto M, Kurisu S, Yamada T, Takenawa T. Alpha-Actinin-4 enhances colorectal cancer cell invasion by suppressing focal adhesion maturation. PLoS One. 2015;10:e0120616. doi:10.1371/journal.pone.0120616.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Gautel M. The sarcomeric cytoskeleton: who picks up the strain? Curr Opin Cell Biol. 2011;23:39–46. doi:10.1016/j.ceb.2010.12.001.

    Article  PubMed  CAS  Google Scholar 

  • Gautel M, Djinovic-Carugo K. The sarcomeric cytoskeleton: from molecules to motion. J Exp Biol. 2016;219:135–45. doi:10.1242/jeb.124941.

    Article  PubMed  Google Scholar 

  • Gueguen P, Rouault K, Chen JM, Raguenes O, Fichou Y, Hardy E, et al. A missense mutation in the alpha-Actinin 1 Gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. PLoS One. 2013;8:e74728. doi:10.1371/journal.pone.0074728.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Honda K. The biological role of actinin-4 (ACTN4) in malignant phenotypes of cancer. Cell Biosci. 2015;5:41. doi:10.1186/s13578-015-0031-0.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Jayadev R, Kuk CY, Low SH, Murata-Hori M. Calcium sensitivity of alpha-actinin is required for equatorial actin assembly during cytokinesis. Cell Cycle. 2012;11:1929–37. doi:10.4161/cc.20277.

    Article  PubMed  CAS  Google Scholar 

  • Kanchanawong P, Shtengel G, Pasapera AM, Ramko EB, Davidson MW, Hess HF, et al. Nanoscale architecture of integrin-based cell adhesions. Nature. 2010;468:580–4. doi:10.1038/nature09621.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Kos CH, Le TC, Sinha S, Henderson JM, Kim SH, Sugimoto H, et al. Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest. 2003;111:1683–90. doi:10.1172/JCI17988.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, et al. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet. 2013;92:431–8. doi:10.1016/j.ajhg.2013.01.015.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Laporte D, Ojkic N, Vavylonis D, Wu JQ. Alpha-Actinin and fimbrin cooperate with myosin II to organize actomyosin bundles during contractile-ring assembly. Mol Biol Cell. 2012;23:3094–110. doi:10.1091/mbc.E12-02-0123.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Lazarides E, Burridge K. Alpha-actinin: immunofluorescent localization of a muscle structural protein in nonmuscle cells. Cell. 1975;6:289–98.

    Article  PubMed  CAS  Google Scholar 

  • MacArthur DG, North KN. A gene for speed? The evolution and function of alpha-actinin-3. Bioessays. 2004;26:786–95. doi:10.1002/bies.20061.

    Article  PubMed  CAS  Google Scholar 

  • MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, et al. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet. 2007;39:1261–5. doi:10.1038/ng2122.

    Article  PubMed  CAS  Google Scholar 

  • Mukhina S, Wang YL, Murata-Hori M. Alpha-actinin is required for tightly regulated remodeling of the actin cortical network during cytokinesis. Dev Cell. 2007;13:554–65. doi:10.1016/j.devcel.2007.08.003.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Murphy AC, Lindsay AJ, McCaffrey MW, Djinovic-Carugo K, Young PW. Congenital macrothrombocytopenia-linked mutations in the actin-binding domain of alpha-actinin-1 enhance F-actin association. FEBS Lett. 2016;590:685–95. doi:10.1002/1873-3468.12101.

    Article  PubMed  CAS  Google Scholar 

  • Murphy AC, Young PW. The actinin family of actin cross-linking proteins – a genetic perspective. Cell Biosci. 2015;5:49. doi:10.1186/s13578-015-0029-7.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Otey CA, Carpen O. Alpha-actinin revisited: a fresh look at an old player. Cell Motil Cytoskeleton. 2004;58:104–11.

    Article  PubMed  CAS  Google Scholar 

  • Ribeiro Ede Jr A, Pinotsis N, Ghisleni A, Salmazo A, Konarev PV, Kostan J, et al. The structure and regulation of human muscle alpha-actinin. Cell. 2014;159:1447–60. doi:10.1016/j.cell.2014.10.056.

    Article  PubMed  CAS  Google Scholar 

  • Seto JT, Quinlan KG, Lek M, Zheng XF, Garton F, MacArthur DG, et al. ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest. 2013;123:4255–63. doi:10.1172/JCI67691.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Shao H, Wu C, Wells A. Phosphorylation of alpha-actinin 4 upon epidermal growth factor exposure regulates its interaction with actin. J Biol Chem. 2010;285:2591–600. doi:10.1074/jbc.M109.035790.

    Article  PubMed  CAS  Google Scholar 

  • Sjoblom B, Salmazo A, Djinovic-Carugo K. Alpha-actinin structure and regulation. Cell Mol Life Sci. 2008;65:2688–701. doi:10.1007/s00018-008-8080-8.

    Article  PubMed  CAS  Google Scholar 

  • Sorimachi H, Freiburg A, Kolmerer B, Ishiura S, Stier G, Gregorio CC, et al. Tissue-specific expression and alpha-actinin binding properties of the Z-disc titin: implications for the nature of vertebrate Z-discs. J Mol Biol. 1997;270:688–95. doi:10.1006/jmbi.1997.1145.

    Article  PubMed  CAS  Google Scholar 

  • von Wichert G, Haimovich B, Feng GS, Sheetz MP. Force-dependent integrin-cytoskeleton linkage formation requires downregulation of focal complex dynamics by Shp2. EMBO J. 2003;22:5023–35. doi:10.1093/emboj/cdg492.

    Article  Google Scholar 

  • Wu JQ, Bahler J, Pringle JR. Roles of a fimbrin and an alpha-actinin-like protein in fission yeast cell polarization and cytokinesis. Mol Biol Cell. 2001;12:1061–77.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Yasutomi M, Kunishima S, Okazaki S, Tanizawa A, Tsuchida S, Ohshima Y. ACTN1 rod domain mutation associated with congenital macrothrombocytopenia. Ann Hematol. 2015. doi:10.1007/s00277-015-2517-6.

    Article  PubMed  Google Scholar 

  • Young P, Ferguson C, Bañuelos S, Gautel M. Molecular structure of the sarcomeric Z-disk: two types of titin interactions lead to an asymmetrical sorting of alpha-actinin. EMBO J. 1998;17:1614–24.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Young P, Gautel M. The interaction of titin and alpha-actinin is controlled by a phospholipid-regulated intramolecular pseudoligand mechanism. EMBO J. 2000;19:6331–40. doi:10.1093/emboj/19.23.6331.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. School of Biochemistry and Cell Biology, University College Cork, Cork, Ireland

    Paul W. Young & Amarendra Praburam Ajaykumar

Authors
  1. Paul W. Young
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Amarendra Praburam Ajaykumar
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Paul W. Young .

Editor information

Editors and Affiliations

  1. Department of Molecular Science and Technology, Ajou University, Suwon, Korea

    Sangdun Choi

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Young, P.W., Ajaykumar, A.P. (2018). Actinin Family. In: Choi, S. (eds) Encyclopedia of Signaling Molecules. Springer, Cham. https://doi.org/10.1007/978-3-319-67199-4_101924

Download citation

Publish with us

Policies and ethics

Search

Navigation