ACTA2 (actin alpha 2) is an actin protein with several aliases including alpha-actin, alpha-actin-2, aortic smooth muscle or alpha smooth muscle actin (α-SMA, SMactin, alpha-SM-actin, ASMA). Actins are a family of globular multi-functional proteins that form microfilaments . ACTA2 is one of 6 different actin isoforms and is involved in the contractile apparatus of smooth muscle . ACTA2 (as with all the actins) is extremely highly conserved and found in nearly all mammals.
In humans, ACTA2 is encoded by the ACTA2 gene located on 10q22-q24.[ 5] [ 6] Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease , coronary artery disease , stroke , Moyamoya disease , and multisystemic smooth muscle dysfunction syndrome .[ 5]
ACTA2 (commonly referred to as alpha-smooth muscle actin or α-SMA) is often used as a marker of myofibroblast formation.[ 7] Studies have shown that ACTA2 is associated with TGF-β pathway that enhances contractile properties of hepatic stellate cells leading to liver fibrosis and cirrhosis .[ 8]
^ a b c GRCh38: Ensembl release 89: ENSG00000107796 – Ensembl , May 2017
^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035783 – Ensembl , May 2017
^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ a b "Entrez Gene: ACTA2 actin, alpha 2, smooth muscle, aorta" .
^ Ueyama H, Bruns G, Kanda N (June 1990). "Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10" . Jinrui Idengaku Zasshi. The Japanese Journal of Human Genetics . 35 (2): 145–50. doi :10.1007/BF01876459 . PMID 2398629 .
^ Nagamoto T, Eguchi G, Beebe DC (April 2000). "Alpha-smooth muscle actin expression in cultured lens epithelial cells". Investigative Ophthalmology & Visual Science . 41 (5): 1122–9. PMID 10752950 .
^ Hassan S, Shah H, Shawana S (2020). "Dysregulated epidermal growth factor and tumor growth factor-beta receptor signaling through GFAP-ACTA2 protein interaction in liver fibrosis" . Pakistan Journal of Medical Sciences . 36 (4): 782–787. doi :10.12669/pjms.36.4.1845 . PMC 7260937 . PMID 32494274 .
Snásel J, Pichová I (1997). "The cleavage of host cell proteins by HIV-1 protease". Folia Biologica . 42 (5): 227–30. doi :10.1007/BF02818986 . PMID 8997639 . S2CID 7617882 .
Adams LD, Tomasselli AG, Robbins P, Moss B, Heinrikson RL (February 1992). "HIV-1 protease cleaves actin during acute infection of human T-lymphocytes" . AIDS Research and Human Retroviruses . 8 (2): 291–5. doi :10.1089/aid.1992.8.291 . PMID 1540415 .
Harris DE, Warshaw DM, Periasamy M (March 1992). "Nucleotide sequences of the rabbit alpha-smooth-muscle and beta-non-muscle actin mRNAs". Gene . 112 (2): 265–6. doi :10.1016/0378-1119(92)90388-6 . PMID 1555776 .
Tomasselli AG, Hui JO, Adams L, Chosay J, Lowery D, Greenberg B, Yem A, Deibel MR, Zürcher-Neely H, Heinrikson RL (August 1991). "Actin, troponin C, Alzheimer amyloid precursor protein and pro-interleukin 1 beta as substrates of the protease from human immunodeficiency virus" . The Journal of Biological Chemistry . 266 (22): 14548–53. doi :10.1016/S0021-9258(18)98721-1 . PMID 1907279 .
Jahoda CA, Reynolds AJ, Chaponnier C, Forester JC, Gabbiani G (July 1991). "Smooth muscle alpha-actin is a marker for hair follicle dermis in vivo and in vitro" . Journal of Cell Science . 99 ( Pt 3) (3): 627–36. doi :10.1242/jcs.99.3.627 . PMID 1939373 .
Ueyama H, Ohsugi R (March 1990). "TaqI polymorphism in the 3' flanking region of the human aortic smooth muscle actin gene" . Nucleic Acids Research . 18 (5): 1318. doi :10.1093/nar/18.5.1318 . PMC 330483 . PMID 1969628 .
Shoeman RL, Kesselmier C, Mothes E, Höner B, Traub P (January 1991). "Non-viral cellular substrates for human immunodeficiency virus type 1 protease" . FEBS Letters . 278 (2): 199–203. Bibcode :1991FEBSL.278..199S . doi :10.1016/0014-5793(91)80116-K . PMID 1991513 . S2CID 37002682 .
Nakano Y, Nishihara T, Sasayama S, Miwa T, Kamada S, Kakunaga T (March 1991). "Transcriptional regulatory elements in the 5' upstream and first intron regions of the human smooth muscle (aortic type) alpha-actin-encoding gene". Gene . 99 (2): 285–9. doi :10.1016/0378-1119(91)90140-7 . PMID 2022339 .
Reddy S, Ozgur K, Lu M, Chang W, Mohan SR, Kumar CC, Ruley HE (January 1990). "Structure of the human smooth muscle alpha-actin gene. Analysis of a cDNA and 5' upstream region" . The Journal of Biological Chemistry . 265 (3): 1683–7. doi :10.1016/S0021-9258(19)40070-7 . PMID 2295650 .
Kamada S, Nakano Y, Kakunaga T (December 1989). "Structure of 3'-downstream segment of the human smooth muscle (aortic-type) alpha-actin-encoding gene and isolation of the specific DNA probe". Gene . 84 (2): 455–62. doi :10.1016/0378-1119(89)90520-9 . PMID 2612915 .
Kamada S, Kakunaga T (February 1989). "The nucleotide sequence of a human smooth muscle alpha-actin (aortic type) cDNA" . Nucleic Acids Research . 17 (4): 1767. doi :10.1093/nar/17.4.1767 . PMC 331843 . PMID 2701935 .
Kedes L, Ng SY, Lin CS, Gunning P, Eddy R, Shows T, Leavitt J (1986). "The human beta-actin multigene family". Transactions of the Association of American Physicians . 98 : 42–6. PMID 3842206 .
Ueyama H, Hamada H, Battula N, Kakunaga T (June 1984). "Structure of a human smooth muscle actin gene (aortic type) with a unique intron site" . Molecular and Cellular Biology . 4 (6): 1073–8. doi :10.1128/MCB.4.6.1073 . PMC 368875 . PMID 6330528 .
Strauch AR, Rubenstein PA (June 1984). "A vascular smooth muscle alpha-isoactin biosynthetic intermediate in BC3H1 cells. Identification of acetylcysteine at the NH2 terminus" . The Journal of Biological Chemistry . 259 (11): 7224–9. doi :10.1016/S0021-9258(17)39861-7 . PMID 6725286 .
Ueyama H, Inazawa J, Ariyama T, Nishino H, Ochiai Y, Ohkubo I, Miwa T (March 1995). "Reexamination of chromosomal loci of human muscle actin genes by fluorescence in situ hybridization" . The Japanese Journal of Human Genetics . 40 (1): 145–8. doi :10.1007/BF01874078 . PMID 7780165 .
Arora PD, McCulloch CA (April 1994). "Dependence of collagen remodelling on alpha-smooth muscle actin expression by fibroblasts". Journal of Cellular Physiology . 159 (1): 161–75. doi :10.1002/jcp.1041590120 . PMID 8138584 . S2CID 84214215 .
Iwata Y, Pan Y, Yoshida T, Hanada H, Shigekawa M (February 1998). "Alpha1-syntrophin has distinct binding sites for actin and calmodulin". FEBS Letters . 423 (2): 173–7. Bibcode :1998FEBSL.423..173I . doi :10.1016/S0014-5793(98)00085-4 . PMID 9512352 . S2CID 26209999 .
Comer KA, Dennis PA, Armstrong L, Catino JJ, Kastan MB, Kumar CC (March 1998). "Human smooth muscle alpha-actin gene is a transcriptional _target of the p53 tumor suppressor protein". Oncogene . 16 (10): 1299–308. doi :10.1038/sj.onc.1201645 . PMID 9546431 . S2CID 11098751 .