The Full Wiki

MYH11: Wikis

Advertisements

Note: Many of our articles have direct quotes from sources you can cite, within the Wikipedia article! This article doesn't yet, but we're working on it! See more info or our list of citable articles.

Encyclopedia

From Wikipedia, the free encyclopedia

edit
Myosin, heavy chain 11, smooth muscle

PDB rendering based on 1br1.
Available structures
1br1, 1br2, 1br4, 1i84
Identifiers
Symbols MYH11; AAT4; DKFZp686D10126; DKFZp686D19237; FAA4; FLJ35232; MGC126726; MGC32963; SMHC; SMMHC
External IDs OMIM160745 MGI102643 HomoloGene68258 GeneCards: MYH11 Gene
RNA expression pattern
PBB GE MYH11 201496 x at tn.png
PBB GE MYH11 201495 x at tn.png
PBB GE MYH11 201497 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4629 17880
Ensembl ENSG00000133392 ENSMUSG00000018830
UniProt P35749 Q69ZX3
RefSeq (mRNA) NM_001040113 NM_013607
RefSeq (protein) NP_001035202 NP_038635
Location (UCSC) Chr 16:
15.7 - 15.86 Mb
Chr 16:
14.11 - 14.2 Mb
PubMed search [1] [2]

Myosin-11 is a protein that in humans is encoded by the MYH11 gene.[1][2]

Contents

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.[2]

Clinical significance

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.[3]

References

  1. ^ 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.  
  2. ^ a b "Entrez Gene: MYH11 myosin, heavy chain 11, smooth muscle". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4629.  
  3. ^ 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. PMID 18391202.  

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. 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. 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. 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.  
Advertisements

Advertisements






Got something to say? Make a comment.
Your name
Your email address
Message