Actin, alpha skeletal muscle

Skeletal alpha actin expression is induced by stimuli and conditions known to cause muscle formation.{{cite journal | vauthors = Bandman E | title = Contractile protein isoforms in muscle development | journal = Developmental Biology | volume = 154 | issue = 2 | pages = 273–83 | date = December 1992 | pmid = 1358730 | doi = 10.1016/0012-1606(92)90067-Q }} Such conditions result in fusion of committed cells (satellite cells) into myotubes, to form muscle fibers. Skeletal actin itself, when expressed, causes expression of several other "myogenic genes", which are essential to muscle formation.{{cite journal | vauthors = Gunning PW, Ferguson V, Brennan KJ, Hardeman EC | title = Alpha-skeletal actin induces a subset of muscle genes independently of muscle differentiation and withdrawal from the cell cycle | journal = Journal of Cell Science | volume = 114 | issue = Pt 3 | pages = 513–24 | date = February 2001 | doi = 10.1242/jcs.114.3.513 | pmid = 11171321 }} One key transcription factor that activates skeletal actin gene expression is Serum Response Factor ("SRF"), a protein that binds to specific sites on the promoter DNA of the actin gene.{{cite journal | vauthors = Belaguli NS, Zhou W, Trinh TH, Majesky MW, Schwartz RJ | title = Dominant negative murine serum response factor: alternative splicing within the activation domain inhibits transactivation of serum response factor binding targets | journal = Molecular and Cellular Biology | volume = 19 | issue = 7 | pages = 4582–91 | date = July 1999 | pmid = 10373507 | pmc = 84256 | doi = 10.1128/mcb.19.7.4582 }} SRF may bring a number of other proteins to the promoter of skeletal actin, such as androgen receptor, and thereby contribute to induction of skeletal actin gene expression by androgenic (often termed "anabolic") steroids.{{cite journal | vauthors = Vlahopoulos S, Zimmer WE, Jenster G, Belaguli NS, Balk SP, Brinkmann AO, Lanz RB, Zoumpourlis VC, Schwartz RJ | title = Recruitment of the androgen receptor via serum response factor facilitates expression of a myogenic gene | journal = The Journal of Biological Chemistry | volume = 280 | issue = 9 | pages = 7786–92 | date = March 2005 | pmid = 15623502 | doi = 10.1074/jbc.M413992200 | doi-access = free }}

Actin, alpha 1 has been shown to interact with TMSB4X,{{cite journal | vauthors = Ballweber E, Hannappel E, Huff T, Stephan H, Haener M, Taschner N, Stoffler D, Aebi U, Mannherz HG | title = Polymerisation of chemically cross-linked actin:thymosin beta(4) complex to filamentous actin: alteration in helical parameters and visualisation of thymosin beta(4) binding on F-actin | journal = Journal of Molecular Biology | volume = 315 | issue = 4 | pages = 613–25 | date = January 2002 | pmid = 11812134 | doi = 10.1006/jmbi.2001.5281 }}{{cite journal | vauthors = Safer D, Sosnick TR, Elzinga M | title = Thymosin beta 4 binds actin in an extended conformation and contacts both the barbed and pointed ends | journal = Biochemistry | volume = 36 | issue = 19 | pages = 5806–16 | date = May 1997 | pmid = 9153421 | doi = 10.1021/bi970185v }} MIB2{{cite journal | vauthors = Takeuchi T, Heng HH, Ye CJ, Liang SB, Iwata J, Sonobe H, Ohtsuki Y | title = Down-regulation of a novel actin-binding molecule, skeletrophin, in malignant melanoma | journal = The American Journal of Pathology | volume = 163 | issue = 4 | pages = 1395–404 | date = October 2003 | pmid = 14507647 | pmc = 1868282 | doi = 10.1016/S0002-9440(10)63497-9 }} and PRKCE.{{cite journal | vauthors = England K, Ashford D, Kidd D, Rumsby M | title = PKC epsilon is associated with myosin IIA and actin in fibroblasts | journal = Cellular Signalling | volume = 14 | issue = 6 | pages = 529–36 | date = June 2002 | pmid = 11897493 | doi = 10.1016/S0898-6568(01)00277-7 }}

Mutations in the ACTA1 gene are known to cause the following conditions:{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprot/P68133 |access-date=2023-09-09 |website=www.uniprot.org}}

• Nemaline myopathy 3 (NEM3);
• Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM);
• Myopathy, congenital, with fiber-type disproportion (CFTD);
• Myopathy, scapulohumeroperoneal (SHPM).

• Actin
• ACTB

{{reflist}}

{{refbegin | 2}}

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{{refend}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=nem GeneReviews/NCBI/NIH/UW entry on Nemaline Myopathy]
• {{UCSC gene info|ACTA1}}

{{PDB Gallery|geneid=58}}

{{Cytoskeletal Proteins}}