ACTA2

ACTA2
Identifiers
Aliases	ACTA2, AAT6, ACTSA, MYMY5, actin, alpha 2, smooth muscle, aorta, actin alpha 2, smooth muscle
External IDs	OMIM: 102620 MGI: 87909 HomoloGene: 133938 GeneCards: ACTA2
Gene location (Human)
Chr.	Chromosome 10 (human)[1]
End	88,991,339 bp[1]
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)[2]
End	34,232,990 bp[2]
RNA expression pattern
	Top expressed in
	saphenous vein; ; right coronary artery; ; popliteal artery; ; urethra; ; ascending aorta; ; seminal vesicula; ; left coronary artery; ; myometrium; ; vena cava; ; superficial temporal artery;
	Top expressed in
	ascending aorta; ; aortic valve; ; iris; ; belly cord; ; cervix; ; calvaria; ; internal carotid artery; ; seminal vesicula; ; external carotid artery; ; left colon;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ATP binding; nucleotide binding; protein kinase binding;
Cellular component	cytosol; cytoplasm; actin cytoskeleton; smooth muscle contractile fiber; cell body; lamellipodium; filopodium; cytoskeleton; extracellular exosome; extracellular space; protein-containing complex;
Biological process	muscle contraction; regulation of blood pressure; vascular associated smooth muscle contraction; mesenchyme migration; positive regulation of gene expression; glomerular mesangial cell development; response to virus; positive regulation of transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	59
	11475
	ENSG00000107796
	ENSMUSG00000035783
	P62736
	P62737
	NM_001141945; NM_001613; NM_001320855
	NM_007392
	NP_001135417; NP_001307784; NP_001604
	NP_031418
	Wikidata
View/Edit Human	View/Edit Mouse

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]

References

GRCh38: Ensembl release 89: ENSG00000107796 - Ensembl, May 2017
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.
"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, Sobia; Shah, Hussain; Shawana, Summayya (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. 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. 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.

External links

GeneReviews/NIH/NCBI/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections
Human ACTA2 genome location and ACTA2 gene details page in the UCSC Genome Browser.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000107796 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035783 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: ACTA2 actin, alpha 2, smooth muscle, aorta".

[pmid2398629-6] 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.

[pmid10752950-7] 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.

[8] Hassan, Sobia; Shah, Hussain; Shawana, Summayya (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.

ACTA2

References

Further reading

External links