MYH11

Myosin, heavy chain 11, smooth muscle
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PDB rendering based on 1br1.
Available structures: 1br1, 1br2, 1br4, 1i84
Identifiers
Symbol(s)	MYH11; AAT4; DKFZp686D10126; DKFZp686D19237; FAA4; FLJ35232; MGC126726; MGC32963; SMHC; SMMHC
External IDs	OMIM: 160745 MGI: 102643 Homologene: 68258
Gene ontology Molecular Function: • nucleotide binding • motor activity • actin binding • calmodulin binding • ATP binding • structural constituent of muscle Cellular Component: • muscle myosin complex • striated muscle thick filament • myosin complex Biological Process: • smooth muscle contraction • striated muscle contraction • muscle thick filament assembly • elastic fiber assembly • smooth muscle fiber development
RNA expression pattern
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Orthologs
	Human	Mouse
Entrez	4629	17880
Ensembl	ENSG00000133392	ENSMUSG00000018830
Uniprot	P35749	Q69ZX3
Refseq	NM_001040113 (mRNA) NP_001035202 (protein)	NM_013607 (mRNA) NP_038635 (protein)
Location	Chr 16: 15.7 - 15.86 Mb	Chr 16: 14.11 - 14.2 Mb
Pubmed search	[1]	[2]

Myosin, heavy chain 11, smooth muscle, also known as MYH11, is a human gene.

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. 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. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified.

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:<532::AID-JEMT10>3.0.CO;2-E 10.1002/1097-0029(20000915)50:6<532::AID-JEMT10>3.0.CO;2-E. PMID 10998642.
• Matsuoka R, Yoshida MC, Furutani Y, et al. (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.
• 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. 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. 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. 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. 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. 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. 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. 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.