MYH11

MYH11
Identifiers
Aliases	MYH11, AAT4, FAA4, SMHC, SMMHC, myosin, heavy chain 11, smooth muscle, myosin heavy chain 11
External IDs	MGI: 102643 HomoloGene: 128512 GeneCards: MYH11
Gene ontology Molecular function • nucleotide binding • protein binding • ATP binding • actin binding • motor activity • structural constituent of muscle • actin filament binding • calmodulin binding Cellular component • myosin filament • myosin complex • melanosome • muscle myosin complex • cytosol • extracellular exosome Biological process • cardiac muscle fiber development • skeletal muscle myosin thick filament assembly • smooth muscle contraction • elastic fiber assembly • muscle contraction Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4629	17880
Ensembl	n/a	ENSMUSG00000018830
UniProt	P35749	O08638
RefSeq (mRNA)	NM_001040113 NM_001040114 NM_002474 NM_022844	NM_001161775 NM_013607
RefSeq (protein)	NP_001035202.1 NP_001035203.1 NP_002465.1 NP_074035.1 NP_002465.1 NP_074035.1	n/a
Location (UCSC)	Chr 16: 15.7 – 15.86 Mb	Chr 16: 14.19 – 14.29 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

Myosin-11 is a protein that in humans is encoded by the MYH11 gene.^[3][4]

Function

Myosin-11 is a smooth muscle myosin belonging to the myosin heavy chain family. Myosin-11 is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits.

It is a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP.

Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation.^[4]

Clinical significance

Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in isolation or in association with genetic syndromes, such as Marfan syndrome and Loeys-Dietz syndrome. When TAAD occurs in the absence of syndromic features, it is inherited in an autosomal dominant manner with decreased penetrance and variable expression, the disease is referred to as familial TAAD. Familial TAAD exhibits significant clinical and genetic heterogeneity. Mutations in MYH11 have been described in individuals with TAAD with patent ductus arteriosus (PDA). Of individuals with TAAD, approximately 4% have mutations in TGFBR2, and approximately 1-2% have mutations in either TGFBR1 or MYH11. In addition, FBN1 mutations have also been reported in individuals with TAAD. Mutations within the SMAD3 gene have recently been reported in patients with a syndromic form of aortic aneurysms and dissections with early onset osteoarthritis. SMAD3 mutations are thought to account for approximately 2% of familial TAAD. Additionally, mutations in the ACTA2 gene are thought to account for approximately 10-14% of familial TAAD.^[5]

Acute myeloid leukemia

The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N-terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype.

Intestinal cancer

MYH11 mutations appear to contribute to human intestinal cancer.^[6]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Matsuoka R, Yoshida MC, Furutani Y, Imamura S, Kanda N, Yanagisawa M, Masaki T, Takao A (Jun 1993). "Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12". Am J Med Genet. 46 (1): 61–7. doi:10.1002/ajmg.1320460110. PMID 7684189.
4. "Entrez Gene: MYH11 myosin, heavy chain 11, smooth muscle".
5. Boston University Center for Human Genetics - http://www.bumc.bu.edu/hg/dnadiagnostics/dnatestdescription/#Thoracic Aortic Aneurysms
6. Alhopuro P, Phichith D, Tuupanen S, Sammalkorpi H, Nybondas M, Saharinen J, Robinson JP, Yang Z, Chen LQ, Orntoft T, Mecklin JP, Järvinen H, Eng C, Moeslein G, Shibata D, Houlston RS, Lucassen A, Tomlinson IP, Launonen V, Ristimäki A, Arango D, Karhu A, Sweeney HL, Aaltonen LA (April 2008). "Unregulated smooth-muscle myosin in human intestinal neoplasia". Proc. Natl. Acad. Sci. U.S.A. 105 (14): 5513–8. doi:10.1073/pnas.0801213105. PMC 2291082. PMID 18391202.

External links

• GeneReviews/NIH/NCBI/UW entry on Thoracic Aortic Aneurysms and Aortic Dissections

Further reading

• Babu GJ, Warshaw DM, Periasamy M (2000). "Smooth muscle myosin heavy chain isoforms and their role in muscle physiology.". Microsc. Res. Tech. 50 (6): 532–40. doi:10.1002/1097-0029(20000915)50:6<532::AID-JEMT10>3.0.CO;2-E. PMID 10998642.
• Aikawa M, Sivam PN, Kuro-o M, et al. (1993). "Human smooth muscle myosin heavy chain isoforms as molecular markers for vascular development and atherosclerosis.". Circ. Res. 73 (6): 1000–12. doi:10.1161/01.res.73.6.1000. PMID 7916668.
• van der Reijden BA, Dauwerse JG, Wessels JW, et al. (1993). "A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo.". Blood. 82 (10): 2948–52. PMID 8219185.
• Deng Z, Liu P, Marlton P, et al. (1994). "Smooth muscle myosin heavy chain locus (MYH11) maps to 16p13.13-p13.12 and establishes a new region of conserved synteny between human 16p and mouse 16.". Genomics. 18 (1): 156–9. doi:10.1006/geno.1993.1443. PMID 8276405.
• Shoeman RL, Sachse C, Höner B, et al. (1993). "Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin.". Am. J. Pathol. 142 (1): 221–30. PMC 1886840. PMID 8424456.
• New L, Jiang Y, Zhao M, et al. (1998). "PRAK, a novel protein kinase regulated by the p38 MAP kinase.". EMBO J. 17 (12): 3372–84. doi:10.1093/emboj/17.12.3372. PMC 1170675. PMID 9628874.
• Tanaka Y, Fujii M, Hayashi K, et al. (1998). "The chimeric protein, PEBP2 beta/CBF beta-SMMHC, disorganizes cytoplasmic stress fibers and inhibits transcriptional activation.". Oncogene. 17 (6): 699–708. doi:10.1038/sj.onc.1201985. PMID 9715271.
• Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
• Loftus BJ, Kim UJ, Sneddon VP, et al. (1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.". Genomics. 60 (3): 295–308. doi:10.1006/geno.1999.5927. PMID 10493829.
• Tsuchio Y, Naito S, Nogami A, et al. (2000). "Intracoronary serum smooth muscle myosin heavy chain levels following PTCA may predict restenosis.". Japanese heart journal. 41 (2): 131–40. doi:10.1536/jhj.41.131. PMID 10850529.
• Lin VK, Wang D, Lee IL, et al. (2000). "Myosin heavy chain gene expression in normal and hyperplastic human prostate tissue.". Prostate. 44 (3): 193–203. doi:10.1002/1097-0045(20000801)44:3<193::AID-PROS3>3.0.CO;2-A. PMID 10906735.
• Meloni I, Rubegni P, De Aloe G, et al. (2001). "Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.". Hum. Mutat. 18 (1): 85. doi:10.1002/humu.1157. PMID 11439001.
• Kundu M, Chen A, Anderson S, et al. (2002). "Role of Cbfb in hematopoiesis and perturbations resulting from expression of the leukemogenic fusion gene Cbfb-MYH11.". Blood. 100 (7): 2449–56. doi:10.1182/blood-2002-04-1064. PMID 12239155.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Landrette SF, Kuo YH, Hensen K, et al. (2005). "Plag1 and Plagl2 are oncogenes that induce acute myeloid leukemia in cooperation with Cbfb-MYH11.". Blood. 105 (7): 2900–7. doi:10.1182/blood-2004-09-3630. PMID 15585652.
• Léguillette R, Gil FR, Zitouni N, et al. (2005). "(+)Insert smooth muscle myosin heavy chain (SM-B) isoform expression in human tissues.". Am. J. Physiol., Cell Physiol. 289 (5): C1277–85. doi:10.1152/ajpcell.00244.2004. PMID 16000639.
• Zhu L, Vranckx R, Khau Van Kien P, et al. (2006). "Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus.". Nat. Genet. 38 (3): 343–9. doi:10.1038/ng1721. PMID 16444274.